Information on CHAI
Name: CTLA4 haploinsufficiency with autoimmune infiltration | Acronym: CHAI
Alt. names: CTLA4 deficiency | CHAI disease | autoimmune lymphoproliferative syndrome type V | ALPS type 5 | ALPS type V | Autoimmune lymphoproliferative syndrome, type V
Gene: CTLA4 | MOI: Autosomal dominant | Mechanism of action: Haploinsufficiency
No. of cases in DB: 345 | First reported in: 2014
Last updated on: 2023-08-25 by Andrés Caballero-Oteyza
Description
Autoimmune lymphoproliferative syndrome type V is an autosomal dominant complex immune disorder characterized by autoimmune thrombocytopenias and abnormal lymphocytic infiltration of nonlymphoid organs, including the lungs, brain, and gastrointestinal tract, resulting in enteropathy. Some patients may show features of an immunodeficiency syndrome with recurrent infections, but immunosuppressive therapy often results in clinical improvement (Kuehn et al., 2014)
Management
Medical treatment (with immunosuppression) has been described as beneficial. The condition may involve frequent infections, and awareness may allow preventive measures and early and aggressive treatment of infections.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Autoimmunity |
141 (61.6%) | 38 (16.6%) | 50 (21.8%) |
| 2 | Hypogammaglobulinemia |
130 (56.8%) | 9 (3.9%) | 90 (39.3%) |
| 3 | Enteropathy |
102 (44.5%) | 23 (10.0%) | 104 (45.4%) |
| 4 | Abnormal lymphoproliferation |
98 (42.8%) | 21 (9.2%) | 110 (48.0%) |
| 5 | (unusual) Respiratory tract infection |
97 (42.4%) | 19 (8.3%) | 113 (49.3%) |
| 6 | Autoimmune cytopenia |
97 (42.4%) | 35 (15.3%) | 97 (42.4%) |
| 7 | Decreased IgA levels |
86 (37.6%) | 9 (3.9%) | 134 (58.5%) |
| 8 | Lung disease |
84 (36.7%) | 27 (11.8%) | 118 (51.5%) |
| 9 | Decreased IgG levels |
78 (34.1%) | 11 (4.8%) | 140 (61.1%) |
| 10 | Splenomegaly |
76 (33.2%) | 23 (10.0%) | 130 (56.8%) |
| 11 | Autoimmune thrombocytopenia |
70 (30.6%) | 40 (17.5%) | 119 (52.0%) |
| 12 | Lymphadenopathy |
66 (28.8%) | 34 (14.9%) | 129 (56.3%) |
| 13 | Diarrhea |
64 (28.0%) | 18 (7.9%) | 147 (64.2%) |
| 14 | Autoimmune hemolytic anemia |
61 (26.6%) | 35 (15.3%) | 133 (58.1%) |
| 15 | (unusual) Viral infection |
60 (26.2%) | 14 (6.1%) | 155 (67.7%) |
| 16 | Recurrent lower respiratory tract infections |
58 (25.3%) | 9 (3.9%) | 162 (70.7%) |
| 17 | Recurrent upper respiratory tract infections |
56 (24.5%) | 9 (3.9%) | 164 (71.6%) |
| 18 | Decreased IgM levels |
51 (22.3%) | 21 (9.2%) | 157 (68.6%) |
| 19 | Pneumonia |
51 (22.3%) | 2 (0.9%) | 176 (76.9%) |
| 20 | Autoimmune antibody positivity |
49 (21.4%) | 10 (4.4%) | 170 (74.2%) |
| 21 | Eczema |
47 (20.5%) | 0 (0.0%) | 182 (79.5%) |
| 22 | Granulomatous-lymphocytic interstitial lung disease |
45 (19.7%) | 18 (7.9%) | 166 (72.5%) |
| 23 | Hepatopathy |
43 (18.8%) | 40 (17.5%) | 146 (63.8%) |
| 24 | Common variable immunodeficiency |
41 (17.9%) | 9 (3.9%) | 179 (78.2%) |
| 25 | Endocrine system abnormality |
40 (17.5%) | 27 (11.8%) | 162 (70.7%) |
| 26 | Atopy |
40 (17.5%) | 0 (0.0%) | 189 (82.5%) |
| 27 | Nervous system abnormality |
39 (17.0%) | 0 (0.0%) | 190 (83.0%) |
| 28 | Reduced number of B cells |
38 (16.6%) | 15 (6.6%) | 176 (76.9%) |
| 29 | (unusual) Bacterial infection |
37 (16.2%) | 11 (4.8%) | 181 (79.0%) |
| 30 | Lymphopenia |
34 (14.9%) | 4 (1.8%) | 191 (83.4%) |
| 31 | Coombs Test Positive |
31 (13.5%) | 1 (0.4%) | 197 (86.0%) |
| 32 | Reduced ab-response to tetanus vaccine |
29 (12.7%) | 1 (0.4%) | 199 (86.9%) |
| 33 | Herpes Simplex Virus Infection |
28 (12.2%) | 0 (0.0%) | 201 (87.8%) |
| 34 | Atopic dermatitis |
27 (11.8%) | 0 (0.0%) | 202 (88.2%) |
| 35 | Hematopoietic stem cell transplantation |
27 (11.8%) | 19 (8.3%) | 183 (79.9%) |
| 36 | Reduced NK cell number |
26 (11.4%) | 17 (7.4%) | 186 (81.2%) |
| 37 | Bronchiectasis |
26 (11.4%) | 0 (0.0%) | 203 (88.7%) |
| 38 | Reduced T cell count |
25 (10.9%) | 14 (6.1%) | 190 (83.0%) |
| 39 | Autoimmune neutropenia |
24 (10.5%) | 5 (2.2%) | 200 (87.3%) |
| 40 | Type I diabetes mellitus |
24 (10.5%) | 27 (11.8%) | 178 (77.7%) |
| 41 | Reduced ab-response to pneumococcal polysaccharide vaccine |
24 (10.5%) | 1 (0.4%) | 204 (89.1%) |
| 42 | Arthritis |
24 (10.5%) | 43 (18.8%) | 162 (70.7%) |
| 43 | Psoriasiform dermatitis |
23 (10.0%) | 6 (2.6%) | 200 (87.3%) |
| 44 | Respiratory system abnormality |
23 (10.0%) | 0 (0.0%) | 206 (90.0%) |
| 45 | Hepatomegaly |
23 (10.0%) | 11 (4.8%) | 195 (85.2%) |
| 46 | Decreased proportion of switched memory B cells |
22 (9.6%) | 0 (0.0%) | 207 (90.4%) |
| 47 | negative ab-response to diphtheria vaccine |
21 (9.2%) | 1 (0.4%) | 207 (90.4%) |
| 48 | Reduced proportion of CD4 T cells |
20 (8.7%) | 4 (1.8%) | 205 (89.5%) |
| 49 | Interstitial lung disease |
19 (8.3%) | 10 (4.4%) | 200 (87.3%) |
| 50 | Reduced proportion of naive CD4 T cells |
19 (8.3%) | 1 (0.4%) | 209 (91.3%) |
| 51 | Brain lymphocytic infiltration |
19 (8.3%) | 17 (7.4%) | 193 (84.3%) |
| 52 | Septicaemia |
18 (7.9%) | 0 (0.0%) | 211 (92.1%) |
| 53 | Gastrointestinal lymphocytic infiltration |
18 (7.9%) | 2 (0.9%) | 209 (91.3%) |
| 54 | Autoimmune thyroiditis |
18 (7.9%) | 37 (16.2%) | 174 (76.0%) |
| 55 | (unusual) Epstein-Barr virus infection |
18 (7.9%) | 5 (2.2%) | 206 (90.0%) |
| 56 | Growth delay |
18 (7.9%) | 27 (11.8%) | 184 (80.4%) |
| 57 | Abnormal weight loss |
18 (7.9%) | 0 (0.0%) | 211 (92.1%) |
| 58 | Immune dysregulation |
17 (7.4%) | 0 (0.0%) | 212 (92.6%) |
| 59 | Sinusitis |
16 (7.0%) | 1 (0.4%) | 212 (92.6%) |
| 60 | Mucocutaneous candidiasis |
16 (7.0%) | 5 (2.2%) | 208 (90.8%) |
| 61 | Reduced proportion of CD8 T cells |
16 (7.0%) | 7 (3.1%) | 206 (90.0%) |
| 62 | Unusual infection |
16 (7.0%) | 1 (0.4%) | 212 (92.6%) |
| 63 | Increased proportion of effector mem. CD4 T cells |
16 (7.0%) | 1 (0.4%) | 212 (92.6%) |
| 64 | Decreased proportion of central memory CD4-T cells |
15 (6.6%) | 0 (0.0%) | 214 (93.5%) |
| 65 | Persistent EBV viremia |
15 (6.6%) | 6 (2.6%) | 208 (90.8%) |
| 66 | Pulmonary nodule |
14 (6.1%) | 0 (0.0%) | 215 (93.9%) |
| 67 | Thrombocytopenia |
14 (6.1%) | 1 (0.4%) | 214 (93.5%) |
| 68 | Reduced proportion of recent thymic emigrant CD4+ T cells |
14 (6.1%) | 0 (0.0%) | 215 (93.9%) |
| 69 | Atrophic gastritis |
14 (6.1%) | 11 (4.8%) | 204 (89.1%) |
| 70 | Alopecia |
14 (6.1%) | 16 (7.0%) | 199 (86.9%) |
| 71 | Recurrent S. aureus infections |
13 (5.7%) | 0 (0.0%) | 216 (94.3%) |
| 72 | Warts |
13 (5.7%) | 0 (0.0%) | 216 (94.3%) |
| 73 | Allergy |
13 (5.7%) | 0 (0.0%) | 216 (94.3%) |
| 74 | (unusual) Cytomegalovirus infection |
13 (5.7%) | 4 (1.8%) | 212 (92.6%) |
| 75 | Colitis |
12 (5.2%) | 3 (1.3%) | 214 (93.5%) |
| 76 | Varicella zoster virus infection |
12 (5.2%) | 0 (0.0%) | 217 (94.8%) |
| 77 | Reduced proportion of naive CD8 T cells |
11 (4.8%) | 1 (0.4%) | 217 (94.8%) |
| 78 | Decreased proportion of unswitched memory B cells |
11 (4.8%) | 0 (0.0%) | 218 (95.2%) |
| 79 | Graft Versus Host Disease |
11 (4.8%) | 11 (4.8%) | 207 (90.4%) |
| 80 | Bone marrow lymphocytic infiltration |
11 (4.8%) | 0 (0.0%) | 218 (95.2%) |
| 81 | Fever |
11 (4.8%) | 0 (0.0%) | 218 (95.2%) |
| 82 | Kidney abnormality |
11 (4.8%) | 0 (0.0%) | 218 (95.2%) |
| 83 | Pancytopenia |
11 (4.8%) | 0 (0.0%) | 218 (95.2%) |
| 84 | Hypothyroidism |
10 (4.4%) | 0 (0.0%) | 219 (95.6%) |
| 85 | Triggered by EBV infection |
10 (4.4%) | 9 (3.9%) | 210 (91.7%) |
| 86 | Salmonella infection |
10 (4.4%) | 12 (5.2%) | 207 (90.4%) |
| 87 | Central nervous system abnormality |
10 (4.4%) | 0 (0.0%) | 219 (95.6%) |
| 88 | Dermatitis |
9 (3.9%) | 13 (5.7%) | 207 (90.4%) |
| 89 | Otitis media |
9 (3.9%) | 0 (0.0%) | 220 (96.1%) |
| 90 | Arthralgia |
9 (3.9%) | 11 (4.8%) | 209 (91.3%) |
| 91 | Recurrent respiratory infections |
9 (3.9%) | 6 (2.6%) | 214 (93.5%) |
| 92 | Fatigue |
9 (3.9%) | 0 (0.0%) | 220 (96.1%) |
| 93 | Leukopenia |
9 (3.9%) | 4 (1.8%) | 216 (94.3%) |
| 94 | Gastritis |
9 (3.9%) | 1 (0.4%) | 219 (95.6%) |
| 95 | Cytomegalovirus Infection Reactivation |
9 (3.9%) | 0 (0.0%) | 220 (96.1%) |
| 96 | Increased proportion of CD21low B cells |
8 (3.5%) | 0 (0.0%) | 221 (96.5%) |
| 97 | Seizures |
8 (3.5%) | 26 (11.4%) | 195 (85.2%) |
| 98 | Osteoporosis |
8 (3.5%) | 15 (6.6%) | 206 (90.0%) |
| 99 | Decreased proportion of central memory CD8+ T cells |
8 (3.5%) | 1 (0.4%) | 220 (96.1%) |
| 100 | Pulmonary lymphocytic infiltration |
8 (3.5%) | 1 (0.4%) | 220 (96.1%) |
| 101 | Antinuclear antibodies |
8 (3.5%) | 11 (4.8%) | 210 (91.7%) |
| 102 | Neutropenia |
8 (3.5%) | 1 (0.4%) | 220 (96.1%) |
| 103 | Anemia |
8 (3.5%) | 1 (0.4%) | 220 (96.1%) |
| 104 | Crohn's disease |
8 (3.5%) | 0 (0.0%) | 221 (96.5%) |
| 105 | Hodgkin lymphoma |
8 (3.5%) | 0 (0.0%) | 221 (96.5%) |
| 106 | Encephalitis |
8 (3.5%) | 0 (0.0%) | 221 (96.5%) |
| 107 | Generalized lymphadenopathy |
8 (3.5%) | 0 (0.0%) | 221 (96.5%) |
| 108 | Dyslipidemia |
8 (3.5%) | 9 (3.9%) | 212 (92.6%) |
| 109 | Bronchitis |
8 (3.5%) | 0 (0.0%) | 221 (96.5%) |
| 110 | Drug allergy |
7 (3.1%) | 0 (0.0%) | 222 (96.9%) |
| 111 | Gastrointestinal inflammation |
7 (3.1%) | 0 (0.0%) | 222 (96.9%) |
| 112 | Hepatosplenomegaly |
7 (3.1%) | 0 (0.0%) | 222 (96.9%) |
| 113 | Recurrent Haemophilus influenzae infections |
7 (3.1%) | 0 (0.0%) | 222 (96.9%) |
| 114 | Hepatitis |
7 (3.1%) | 23 (10.0%) | 199 (86.9%) |
| 115 | Headaches |
7 (3.1%) | 1 (0.4%) | 221 (96.5%) |
| 116 | Decreased proportion of regulatory T cells |
7 (3.1%) | 8 (3.5%) | 214 (93.5%) |
| 117 | Anti-glutamic acid decarboxylase antibody positivity |
6 (2.6%) | 0 (0.0%) | 223 (97.4%) |
| 118 | Gastric adenocarcinoma |
6 (2.6%) | 0 (0.0%) | 223 (97.4%) |
| 119 | Brain imaging abnormality |
6 (2.6%) | 0 (0.0%) | 223 (97.4%) |
| 120 | Absent ab-response to pneumococcal polysaccharide vaccine |
6 (2.6%) | 0 (0.0%) | 223 (97.4%) |
| 121 | Vitiligo |
6 (2.6%) | 18 (7.9%) | 205 (89.5%) |
| 122 | Lymphoid hyperplasia |
6 (2.6%) | 0 (0.0%) | 223 (97.4%) |
| 123 | Increased proportion of Tfh cells |
6 (2.6%) | 0 (0.0%) | 223 (97.4%) |
| 124 | Lymphoproliferative disorder |
6 (2.6%) | 1 (0.4%) | 222 (96.9%) |
| 125 | Cachexia |
6 (2.6%) | 0 (0.0%) | 223 (97.4%) |
| 126 | Inflammation of the large intestine |
6 (2.6%) | 1 (0.4%) | 222 (96.9%) |
| 127 | Ileitis |
6 (2.6%) | 0 (0.0%) | 223 (97.4%) |
| 128 | Lymphocytic colitis |
6 (2.6%) | 0 (0.0%) | 223 (97.4%) |
| 129 | Abdominal pain |
6 (2.6%) | 0 (0.0%) | 223 (97.4%) |
| 130 | Decreased proportion of memory B cells |
5 (2.2%) | 0 (0.0%) | 224 (97.8%) |
| 131 | Abnormal proportion of double-negative alpha-beta regulatory T cell |
5 (2.2%) | 0 (0.0%) | 224 (97.8%) |
| 132 | Reduced IgG2 levels |
5 (2.2%) | 0 (0.0%) | 224 (97.8%) |
| 133 | Reduced IgG4 levels |
5 (2.2%) | 0 (0.0%) | 224 (97.8%) |
| 134 | Increased proportion of naive B cells |
5 (2.2%) | 0 (0.0%) | 224 (97.8%) |
| 135 | Increased proportion of CD8 T cells |
5 (2.2%) | 1 (0.4%) | 223 (97.4%) |
| 136 | Recurrent E. coli infections |
5 (2.2%) | 0 (0.0%) | 224 (97.8%) |
| 137 | Renal insufficiency |
5 (2.2%) | 0 (0.0%) | 224 (97.8%) |
| 138 | Urticaria |
5 (2.2%) | 2 (0.9%) | 222 (96.9%) |
| 139 | Recurrent streptococcus pneumoniae infections |
5 (2.2%) | 0 (0.0%) | 224 (97.8%) |
| 140 | Chronic CSF lymphocytosis |
5 (2.2%) | 0 (0.0%) | 224 (97.8%) |
| 141 | Juvenile rheumatoid arthritis |
5 (2.2%) | 0 (0.0%) | 224 (97.8%) |
| 142 | Celiac disease |
5 (2.2%) | 1 (0.4%) | 223 (97.4%) |
| 143 | Pernicious anemia |
5 (2.2%) | 0 (0.0%) | 224 (97.8%) |
| 144 | Herpes labialis, recurrent |
5 (2.2%) | 0 (0.0%) | 224 (97.8%) |
| 145 | Myelitis |
5 (2.2%) | 0 (0.0%) | 224 (97.8%) |
| 146 | Asthma |
5 (2.2%) | 0 (0.0%) | 224 (97.8%) |
| 147 | Villous atrophy |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 148 | Lymphoid interstitial pneumonia |
4 (1.8%) | 2 (0.9%) | 223 (97.4%) |
| 149 | Jaundice |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 150 | Decreased proportion of CD8+, alpha-beta TEMRA T cells |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 151 | Diffuse large B-cell lymphoma |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 152 | Malignant neoplasm |
4 (1.8%) | 50 (21.8%) | 175 (76.4%) |
| 153 | Mycobacterial infection |
4 (1.8%) | 3 (1.3%) | 222 (96.9%) |
| 154 | Global developmental delay |
4 (1.8%) | 12 (5.2%) | 213 (93.0%) |
| 155 | Dependency on parenteral nutrition |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 156 | Exocrine pancreatic insufficiency |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 157 | Penicillin Allergy |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 158 | Vomiting |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 159 | Decreased proportion of naive B cells |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 160 | Increased IgM levels |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 161 | Leukocytosis |
4 (1.8%) | 1 (0.4%) | 224 (97.8%) |
| 162 | Immunodeficiency |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 163 | Follicular lymphoid hyperplasia |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 164 | Thyroid gland abnormality |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 165 | Autoimmune hepatitis |
4 (1.8%) | 16 (7.0%) | 209 (91.3%) |
| 166 | Failure to thrive |
4 (1.8%) | 13 (5.7%) | 212 (92.6%) |
| 167 | Monocytosis |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 168 | Pure red cell aplasia |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 169 | Paraplegia |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 170 | Hemiparesis |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 171 | Sinopulmonary infections |
4 (1.8%) | 0 (0.0%) | 225 (98.3%) |
| 172 | Night sweats |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 173 | Abnormal proportion of immature B cells |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 174 | Persistent CMV viremia |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 175 | Decreased CD4:CD8 ratio |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 176 | Cytomegalovirus colitis |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 177 | Eosinophilia |
3 (1.3%) | 2 (0.9%) | 224 (97.8%) |
| 178 | Absent specific antibody response to tetanus vaccine |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 179 | Pallor |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 180 | Antineutrophil antibodies |
3 (1.3%) | 2 (0.9%) | 224 (97.8%) |
| 181 | macrophage activation syndrome |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 182 | Multiple Sclerosis |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 183 | Severe influenza infection |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 184 | Gastric adenoma |
3 (1.3%) | 13 (5.7%) | 213 (93.0%) |
| 185 | Clubbing |
3 (1.3%) | 15 (6.6%) | 211 (92.1%) |
| 186 | Inguinal lymphadenopathy |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 187 | Vasculitis |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 188 | Elevated hepatic transaminases |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 189 | Intractable diarrhea |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 190 | Pulmonary infiltrates |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 191 | Memory impairment |
3 (1.3%) | 9 (3.9%) | 217 (94.8%) |
| 192 | Lymphocytosis |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 193 | Increased number of B cells |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 194 | Reduced IgG1 levels |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 195 | Recurrent fungal infections |
3 (1.3%) | 4 (1.8%) | 222 (96.9%) |
| 196 | Chronic kidney disease |
3 (1.3%) | 19 (8.3%) | 207 (90.4%) |
| 197 | Decreased body weight |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 198 | Enterocolitis |
3 (1.3%) | 2 (0.9%) | 224 (97.8%) |
| 199 | Increased proportion of effector mem. CD8 T cells |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
| 200 | Facial palsy |
3 (1.3%) | 0 (0.0%) | 226 (98.7%) |
Age of onset
distribution
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|---|
| Immunosuppressive agents | Unspecified (45) for Autoimmune cytopenia & Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Enteropathy; Diabetes insipidus; unspecified; Hepatitis; Hematopoietic stem cell transplantation; Graft Versus Host Disease; Lung disease; Autoimmune thrombocytopenia; Crohn's disease; Colitis; Autoimmune cytopenia; Psoriasiform dermatitis; Cryptogenic Organizing Pneumonia. Good (38) for Brain lymphocytic infiltration; Crohn's disease; Graft Versus Host Disease; Malnutrition; Enteropathy; Pulmonary fibrosis; Abnormal lymphoproliferation; Abnormal lymphoproliferation & Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Nervous system abnormality; Hematopoietic stem cell transplantation; Autoimmune thrombocytopenia & Cerebral edema & Chronic CSF lymphocytosis & Gingival bleeding & Headaches & Seizures & Vasculitis & Visual impairment & Vomiting; Autoimmune cytopenia; Autoimmune thrombocytopenia; Autoimmune hepatitis; Splenomegaly; Abnormal lymphoproliferation & Bone marrow hypocellularity; Pure red cell aplasia; unspecified; Cytomegalovirus Infection Reactivation & Hypogammaglobulinemia & Lymphadenopathy & Splenomegaly; Granulomatous-lymphocytic interstitial lung disease & Lymphadenopathy; Polyarthritis; Cerebral edema & Chronic CSF lymphocytosis & Headaches & Vomiting; Abnormal weight loss & Diarrhea & Enteropathy; Lymphadenopathy; Diarrhea & Megaloblastic anemia & Pancytopenia; Abnormal weight loss & Diarrhea & Graft Versus Host Disease; Lung disease; Decreased pulmonary function & Diarrhea; Cough & Increased sputum production; Bleeding with minor or no trauma & Optic neuritis & Thrombocytopenia; Hypogammaglobulinemia & Rheumatoid arthritis; Acne inversa & Autoimmune hepatitis & Crohn's disease; Autoimmune hemolytic anemia & Thrombocytopenia; Gastrointestinal lymphocytic infiltration & Growth delay & Hypoalbuminemia & Protein-losing enteropathy; Diarrhea. Absent (19) for Diarrhea; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia & Enteropathy; Cytomegalovirus colitis; Autoimmune thrombocytopenia; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia & Lymphadenopathy; Diarrhea & Enteropathy; Enteropathy; Crohn's disease; Pancytopenia; Hematopoietic stem cell transplantation; Abdominal pain & Diarrhea & Fever; Joint swelling & Rheumatoid arthritis; Autoimmune enteropathy & Diarrhea; Autoimmune enteropathy & Autoimmune hepatitis & Diarrhea & Megaloblastic anemia; Pulmonary fibrosis; unspecified. Excelent/Remision (16) for Autoimmune thrombocytopenia; Hodgkin lymphoma; Bone marrow hypocellularity; Autoimmune hemolytic anemia; Psoriasiform dermatitis; Pure red cell aplasia; Diffuse large B-cell lymphoma; Coombs Test Positive; Hypogammaglobulinemia; Diarrhea & Full cheeks & Joint swelling & Lymphadenopathy & Swelling of proximal interphalangeal joints; Splenomegaly; Juvenile rheumatoid arthritis; Abdominal pain & Diarrhea & Fever; Autoimmune cytopenia; Cytomegalovirus Infection Reactivation. Negative/Bad (12) for unspecified; Diarrhea; Autoimmune cytopenia; Colitis & Psoriasiform dermatitis; Lymphopenia; Graft Versus Host Disease; Lymphoproliferative disorder; (unusual) Epstein-Barr virus infection; (unusual) Respiratory tract infection & Agranulocytosis & Neutropenia. Mild (8) for Interstitial lung disease; Nervous system abnormality; unspecified; Urinary incontinence; Diarrhea; Autoimmune thrombocytopenia & Paraparesis; Brain imaging abnormality; Autoimmune thrombocytopenia; Lymphocytic colitis. Moderate (8) for Enteropathy; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Diarrhea; Paraparesis; Intestinal adenocarcinoma; Autoimmune thrombocytopenia; Hematopoietic stem cell transplantation; Polyarthritis |
| Infliximab [Anti-TNF drug] [Monoclonal antibodies] |
Absent (4) for Crohn's disease; unspecified; Abdominal pain & Diarrhea & Fever; Enteropathy. Good (2) for Autoimmune hemolytic anemia & Crohn's disease & Neutropenia & Thrombocytopenia; Diarrhea. Unspecified (2) for unspecified |
| Anti-TNF drug [Immunosuppressive agents] |
Absent (4) for Diarrhea; Crohn's disease; Enteropathy; unspecified. Good (2) for Crohn's disease; Diarrhea. Unspecified (2) for Enteropathy; unspecified. Mild (1) for unspecified. Moderate (1) for Polyarthritis |
| Adalimumab [Anti-TNF drug] [Monoclonal antibodies] |
Absent (1) for unspecified. Moderate (1) for Polyarthritis |
| Corticosteroids [Immunosuppressive agents] [Anti-Inflammatory agents] |
Unspecified (31) for Diabetes insipidus; unspecified; Autoimmune cytopenia & Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Hepatitis; Hematopoietic stem cell transplantation; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Graft Versus Host Disease; Lung disease; Autoimmune thrombocytopenia; Crohn's disease; Cryptogenic Organizing Pneumonia; Enteropathy. Good (16) for Graft Versus Host Disease; Malnutrition; Enteropathy; Pulmonary fibrosis; Abnormal lymphoproliferation; Abnormal lymphoproliferation & Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Nervous system abnormality; Hematopoietic stem cell transplantation; Autoimmune thrombocytopenia & Cerebral edema & Chronic CSF lymphocytosis & Gingival bleeding & Headaches & Seizures & Vasculitis & Visual impairment & Vomiting; Autoimmune cytopenia; Autoimmune thrombocytopenia; Diarrhea. Absent (14) for Autoimmune thrombocytopenia; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia & Lymphadenopathy; Diarrhea & Enteropathy; Enteropathy; Crohn's disease; Pancytopenia; Hematopoietic stem cell transplantation; Abdominal pain & Diarrhea & Fever; Joint swelling & Rheumatoid arthritis; Autoimmune enteropathy & Autoimmune hepatitis & Diarrhea & Megaloblastic anemia; Pulmonary fibrosis; unspecified. Mild (7) for Urinary incontinence; Diarrhea; Autoimmune thrombocytopenia & Paraparesis; Interstitial lung disease; unspecified; Brain imaging abnormality; Lymphocytic colitis. Excelent/Remision (5) for Bone marrow hypocellularity; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmune cytopenia; Cytomegalovirus Infection Reactivation. Negative/Bad (3) for unspecified; Diarrhea. Moderate (3) for Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Diarrhea; Paraparesis |
| Mesalamine [Anti-Inflammatory agents] |
Absent (2) for Crohn's disease. Unspecified (1) for unspecified |
| Azathioprine [Immunosuppressive agents] |
Absent (3) for Diarrhea; Autoimmune enteropathy & Diarrhea; Abdominal pain & Diarrhea & Fever. Unspecified (3) for Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; unspecified. Moderate (1) for Autoimmune hemolytic anemia & Autoimmune thrombocytopenia. Good (1) for Autoimmune hepatitis |
| Methotrexate [Immunosuppressive agents] |
Unspecified (3) for Hematopoietic stem cell transplantation; Colitis; unspecified. Absent (2) for Diarrhea; Crohn's disease. Mild (2) for Autoimmune thrombocytopenia; unspecified. Excelent/Remision (1) for Psoriasiform dermatitis |
| Ustekinumab [Monoclonal antibodies] |
Mild (1) for unspecified. Moderate (1) for Intestinal adenocarcinoma |
| Prednisolone [Corticosteroids] |
Unspecified (8) for unspecified; Cryptogenic Organizing Pneumonia; Autoimmune hepatitis. Absent (5) for unspecified; Autoimmune enteropathy & Autoimmune hepatitis & Diarrhea & Megaloblastic anemia; Chronic diarrhea; Pulmonary fibrosis; Psoriasiform dermatitis. Good (5) for Autoimmune hemolytic anemia & Enteropathy; Diarrhea; Graft Versus Host Disease; Granulomatous-lymphocytic interstitial lung disease & Lymphadenopathy; Autoimmune thrombocytopenia. Excelent/Remision (4) for Diarrhea; Abnormal weight loss & Diarrhea; Autoimmune cytopenia; Diffuse large B-cell lymphoma. Mild (2) for Lymphocytic colitis; Colitis. Moderate (1) for Autoimmune thrombocytopenia |
| Methylprednisolone [Corticosteroids] |
Unspecified (3) for unspecified. Good (2) for Graft Versus Host Disease; Autoimmune hemolytic anemia. Negative/Bad (1) for Lymphopenia & Pulmonary granulomatosis. Absent (1) for Bowel incontinence. Moderate (1) for Brain imaging abnormality & Paraparesis. Excelent/Remision (1) for Cytomegalovirus Infection Reactivation |
| Dexamethasone [Corticosteroids] |
Absent (2) for unspecified; Autoimmune thrombocytopenia |
| Alemtuzumab [Monoclonal antibodies] [Anti-neoplastic agents] |
Good (6) for Hematopoietic stem cell transplantation; Hematopoietic stem cell transplantation & unspecified. Absent (2) for Abnormal lymphoproliferation; unspecified |
| Biological agents | Unspecified (10) for unspecified; Hematopoietic stem cell transplantation; B-cell lymphoma; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia. Absent (9) for unspecified; Abdominal pain & Diarrhea & Fever; Abnormal lymphoproliferation; Persistent EBV viremia; Crohn's disease; Autoimmune cytopenia; Pure red cell aplasia; Protein-losing enteropathy. Good (7) for Autoimmune hemolytic anemia & Crohn's disease & Neutropenia & Thrombocytopenia; Hematopoietic stem cell transplantation; Pancytopenia; Enteropathy; Autoimmune hemolytic anemia. Mild (3) for Nervous system abnormality; unspecified; Autoimmune thrombocytopenia. Excelent/Remision (3) for (unusual) Epstein-Barr virus infection; Autoimmune hemolytic anemia; Diffuse large B-cell lymphoma. Negative/Bad (2) for unspecified; Burkitt lymphoma. Moderate (2) for Intestinal adenocarcinoma; Autoimmune cytopenia |
| Monoclonal antibodies [Biological agents] |
Unspecified (10) for unspecified; Hematopoietic stem cell transplantation; B-cell lymphoma; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia. Absent (9) for unspecified; Abdominal pain & Diarrhea & Fever; Abnormal lymphoproliferation; Persistent EBV viremia; Crohn's disease; Autoimmune cytopenia; Pure red cell aplasia; Protein-losing enteropathy. Good (7) for Autoimmune hemolytic anemia & Crohn's disease & Neutropenia & Thrombocytopenia; Hematopoietic stem cell transplantation; Pancytopenia; Enteropathy; Autoimmune hemolytic anemia. Mild (3) for Nervous system abnormality; unspecified; Autoimmune thrombocytopenia. Excelent/Remision (3) for (unusual) Epstein-Barr virus infection; Autoimmune hemolytic anemia; Diffuse large B-cell lymphoma. Negative/Bad (2) for unspecified; Burkitt lymphoma. Moderate (2) for Intestinal adenocarcinoma; Autoimmune cytopenia |
| Sirolimus [Immunosuppressive agents] [Anti-neoplastic agents] |
Good (15) for Splenomegaly; Enteropathy; Abnormal lymphoproliferation & Bone marrow hypocellularity; Diarrhea; Graft Versus Host Disease; Lung disease; Pure red cell aplasia; Cytomegalovirus Infection Reactivation & Hypogammaglobulinemia & Lymphadenopathy & Splenomegaly; unspecified; Autoimmune cytopenia; Autoimmune thrombocytopenia. Unspecified (7) for unspecified; B-cell lymphoma. Negative/Bad (6) for unspecified; Autoimmune cytopenia; Colitis & Psoriasiform dermatitis; Lymphopenia. Absent (3) for Enteropathy; Crohn's disease; Autoimmune enteropathy & Autoimmune hepatitis & Diarrhea & Megaloblastic anemia. Moderate (1) for Intestinal adenocarcinoma |
| Tacrolimus [Immunosuppressive agents] |
Unspecified (4) for unspecified; Hematopoietic stem cell transplantation. Absent (3) for Crohn's disease; Autoimmune enteropathy & Autoimmune hepatitis & Diarrhea & Megaloblastic anemia. Good (3) for Granulomatous-lymphocytic interstitial lung disease & Lymphadenopathy; Hematopoietic stem cell transplantation. Moderate (1) for Autoimmune thrombocytopenia |
| Rituximab [Monoclonal antibodies] [Anti-neoplastic agents] |
Unspecified (13) for unspecified; Autoimmunity; Hematopoietic stem cell transplantation; B-cell lymphoma; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia. Absent (5) for Persistent EBV viremia; unspecified; Crohn's disease; Autoimmune cytopenia. Good (4) for Pancytopenia; Cerebral edema & Chronic CSF lymphocytosis & Headaches & Vomiting; Enteropathy; Autoimmune hemolytic anemia. Excelent/Remision (4) for (unusual) Epstein-Barr virus infection; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Autoimmune hemolytic anemia; Diffuse large B-cell lymphoma. Negative/Bad (3) for unspecified; Diarrhea & Helicobacter pylori infection; Burkitt lymphoma. Mild (3) for Autoimmune thrombocytopenia; Non-Hodgkin lymphoma; unspecified. Moderate (1) for Autoimmune cytopenia |
| Mycophenolate mofetil [Immunosuppressive agents] |
Unspecified (8) for Autoimmune cytopenia; unspecified; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Hematopoietic stem cell transplantation. Good (6) for Hematopoietic stem cell transplantation; Polyarthritis. Negative/Bad (2) for Graft Versus Host Disease; Lymphoproliferative disorder. Absent (1) for Crohn's disease. Mild (1) for unspecified. Moderate (1) for Autoimmune thrombocytopenia |
| Intravenous immunoglobulin therapy | Unspecified (35) for Diabetes insipidus; unspecified; Immunodeficiency; Autoimmunity; Autoimmune thrombocytopenia & Lymphoid hyperplasia & Neutropenia; Hypogammaglobulinemia; Hematopoietic stem cell transplantation; Colitis & Psoriasiform dermatitis; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia & Combined immunodeficiency. Good (7) for Recurrent upper respiratory tract infection; Unusual infection; Autoimmune thrombocytopenia & Gingival bleeding & Headaches & Seizures & Visual impairment; Granulomatous-lymphocytic interstitial lung disease & Lymphadenopathy; Decreased IgG levels; Autoimmune thrombocytopenia; Lymphadenopathy. Absent (6) for Interstitial lung disease; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia & Lymphadenopathy; Chronic diarrhea; Thrombocytopenia; Cytomegalovirus colitis & Diarrhea; Autoimmune thrombocytopenia. Mild (2) for Autoimmune thrombocytopenia & Paraparesis; Decreased IgG levels. Moderate (1) for Hypogammaglobulinemia |
| Lobectomy [Surgery] |
Unspecified (1) for Pneumatocele |
| Appendectomy [Surgery] |
Excelent/Remision (1) for Diarrhea |
| Cyclosporine [Immunosuppressive agents] |
Unspecified (8) for Autoimmune cytopenia; unspecified; Hematopoietic stem cell transplantation; Psoriasiform dermatitis. Good (5) for Hematopoietic stem cell transplantation; Granulomatous-lymphocytic interstitial lung disease & Lymphadenopathy. Absent (3) for Pulmonary fibrosis; Autoimmune enteropathy & Autoimmune hepatitis & Diarrhea & Megaloblastic anemia; Abdominal pain & Diarrhea & Fever. Negative/Bad (1) for Graft Versus Host Disease. Mild (1) for Autoimmune thrombocytopenia. Moderate (1) for Autoimmune thrombocytopenia. Excelent/Remision (1) for Pure red cell aplasia |
| Budesonide [Corticosteroids] |
Unspecified (4) for unspecified; Enteropathy. Good (1) for Autoimmune hemolytic anemia & Crohn's disease & Neutropenia & Thrombocytopenia |
| Antibiotics | Unspecified (5) for Abscess & Pancreatitis; Cough & Dyspnea; Recurrent E. coli infections; Recurrent upper respiratory tract infection; unspecified. Absent (2) for Pancytopenia; Cytomegalovirus colitis. Good (2) for Sinusitis; Arthritis |
| Trimethoprim [Antibiotics] |
Unspecified (1) for Recurrent upper respiratory tract infection |
| Sulfamethoxazole [Antibiotics] |
Unspecified (1) for Recurrent upper respiratory tract infection |
| Doxycycline [Antibiotics] |
Good (1) for Arthritis |
| Blood transfusion | Unspecified (2) for Pure red cell aplasia. Mild (1) for Pancytopenia |
| Tube feeding | Unspecified (4) for Failure to thrive; Enteropathy; Diarrhea. Absent (1) for Diarrhea |
| Anti-Inflammatory agents | Absent (6) for Crohn's disease; unspecified; Chronic diarrhea; Psoriasiform dermatitis; Bowel incontinence. Unspecified (6) for unspecified; Autoimmune hepatitis. Good (4) for Autoimmune hemolytic anemia & Enteropathy; Granulomatous-lymphocytic interstitial lung disease & Lymphadenopathy; Autoimmune hemolytic anemia; Autoimmune hemolytic anemia & Crohn's disease & Neutropenia & Thrombocytopenia. Excelent/Remision (4) for Diarrhea; Abnormal weight loss & Diarrhea; Diffuse large B-cell lymphoma. Moderate (2) for Autoimmune thrombocytopenia; Brain imaging abnormality & Paraparesis. Negative/Bad (1) for Lymphopenia & Pulmonary granulomatosis. Mild (1) for Colitis |
| Lung transplant [Surgery] |
Negative/Bad (1) for Lung disease. Absent (1) for Pulmonary fibrosis. Mild (1) for Pulmonary Hypertension |
| splenectomy [Surgery] |
Unspecified (5) for Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Autoimmune cytopenia; Abnormal lymphoproliferation & Splenomegaly |
| Cyclophosphamide [Immunosuppressive agents] [Anti-neoplastic agents] |
Absent (2) for Pulmonary fibrosis; Crohn's disease. Good (2) for Cerebral edema & Chronic CSF lymphocytosis & Headaches & Vomiting; Hematopoietic stem cell transplantation. Excelent/Remision (1) for Diffuse large B-cell lymphoma. Unspecified (1) for Autoimmune cytopenia |
| Anti-neoplastic agents | Unspecified (9) for unspecified; B-cell lymphoma; Autoimmunity; Autoimmune cytopenia. Good (8) for Hematopoietic stem cell transplantation & unspecified; Hematopoietic stem cell transplantation; Diarrhea; Lung disease; Cytomegalovirus Infection Reactivation & Hypogammaglobulinemia & Lymphadenopathy & Splenomegaly; unspecified; Autoimmune thrombocytopenia; Cerebral edema & Chronic CSF lymphocytosis & Headaches & Vomiting. Absent (3) for Autoimmune enteropathy & Autoimmune hepatitis & Diarrhea & Megaloblastic anemia; Crohn's disease. Excelent/Remision (2) for Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Diffuse large B-cell lymphoma. Negative/Bad (1) for Diarrhea & Helicobacter pylori infection. Mild (1) for Non-Hodgkin lymphoma |
| Iron supplementation | Excelent/Remision (1) for Anemia |
| Gluten free diet [Diet] |
Moderate (1) for Celiac disease. Good (1) for Diarrhea |
| Mercaptopurine [Anti-neoplastic agents] |
Absent (2) for Crohn's disease. Unspecified (1) for unspecified |
| Gastrectomy [Surgery] |
Excelent/Remision (3) for Gastric adenocarcinoma. Unspecified (2) for Neoplasm of the stomach; Gastric adenocarcinoma. Absent (1) for Diarrhea & Enterocolitis |
| Surgery | Unspecified (12) for Gastric adenocarcinoma; unspecified; Pneumatocele; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Autoimmune cytopenia; Abnormal lymphoproliferation & Splenomegaly; Neoplasm of the stomach; Colitis; Autoimmune hemolytic anemia. Excelent/Remision (5) for Sarcoma; Diarrhea; Gastric adenocarcinoma. Negative/Bad (3) for Lung disease; unspecified. Absent (3) for Melanoma; Pulmonary fibrosis; Diarrhea & Enterocolitis. Mild (2) for Gastric adenocarcinoma; Pulmonary Hypertension. Good (1) for Colon cancer |
| Colectomy [Surgery] |
Negative/Bad (1) for unspecified. Unspecified (1) for Colitis |
| lymphadenectomy [Surgery] |
Excelent/Remision (1) for Gastric adenocarcinoma |
| Levothyroxine [Antithyroid Drug] |
Unspecified (3) for unspecified; Hypothyroidism |
| Hematopoietic stem cell transplantation | Good (7) for Autoimmune hemolytic anemia & Autoimmune thrombocytopenia & Encephalitis; unspecified; Autoimmune cytopenia; Alopecia & Diarrhea & Unusual infection; Enteropathy. Unspecified (7) for unspecified; Enteropathy. Excelent/Remision (6) for Hodgkin lymphoma & macrophage activation syndrome; Autoimmune hemolytic anemia & Lymphadenopathy & Pancytopenia; Autoimmune cytopenia; Hodgkin lymphoma; Autoimmune cytopenia & Enteropathy; Autoimmune cytopenia & Lymphoproliferative disorder. Negative/Bad (2) for unspecified. Absent (1) for Enteropathy & Lung disease. Moderate (1) for Enteropathy |
| Ganciclovir [Antiviral agent] |
Unspecified (4) for Abnormality of the gastric mucosa; (unusual) Cytomegalovirus infection. Mild (1) for Cytomegalovirus colitis. Good (1) for (unusual) Cytomegalovirus infection & Gastritis & Helicobacter pylori infection |
| Proton Pump Inhibitor | Absent (1) for Abnormality of the gastric mucosa |
| Insulin [Anti-diabetic Agent] |
Unspecified (2) for Type I diabetes mellitus |
| Drainage | Unspecified (1) for Abscess & Pancreatitis |
| Abatacept [Immunosuppressive agents] |
Good (18) for Abnormal weight loss & Diarrhea & Enteropathy; Lymphadenopathy; Diarrhea & Megaloblastic anemia & Pancytopenia; Abnormal weight loss & Diarrhea & Graft Versus Host Disease; Lung disease; unspecified; Decreased pulmonary function & Diarrhea; Cough & Increased sputum production; Bleeding with minor or no trauma & Optic neuritis & Thrombocytopenia; Hypogammaglobulinemia & Rheumatoid arthritis; Acne inversa & Autoimmune hepatitis & Crohn's disease; Autoimmune hemolytic anemia & Thrombocytopenia; Gastrointestinal lymphocytic infiltration & Growth delay & Hypoalbuminemia & Protein-losing enteropathy; Autoimmune thrombocytopenia. Unspecified (9) for unspecified. Excelent/Remision (5) for Coombs Test Positive; Hypogammaglobulinemia; Diarrhea & Full cheeks & Joint swelling & Lymphadenopathy & Swelling of proximal interphalangeal joints; Splenomegaly; Juvenile rheumatoid arthritis. Negative/Bad (3) for (unusual) Epstein-Barr virus infection; unspecified; (unusual) Respiratory tract infection & Agranulocytosis & Neutropenia |
| Valganciclovir [Antiviral agent] |
Negative/Bad (2) for (unusual) Cytomegalovirus infection |
| Calcineurin Inhibitor [Immunosuppressive agents] |
Unspecified (4) for Hematopoietic stem cell transplantation. Good (2) for Hematopoietic stem cell transplantation. Absent (1) for Hematopoietic stem cell transplantation. Mild (1) for unspecified. Moderate (1) for Hematopoietic stem cell transplantation |
| Cholecystectomy [Surgery] |
Unspecified (2) for unspecified; Autoimmune hemolytic anemia |
| Chemotherapy | Excelent/Remision (6) for Hodgkin lymphoma; Non-Hodgkin lymphoma; Diffuse large B-cell lymphoma. Negative/Bad (4) for Hodgkin lymphoma; Non-Hodgkin lymphoma; Diffuse large B-cell lymphoma. Good (3) for Hematopoietic stem cell transplantation. Unspecified (2) for unspecified; Multiple myeloma. Mild (1) for Burkitt lymphoma |
| Vincristine [Anti-neoplastic agents] |
Excelent/Remision (1) for Diffuse large B-cell lymphoma |
| Intra-articular steroid injections | Unspecified (1) for Polyarthritis & unspecified |
| Anti-thymocyte globulin [Immunosuppressive agents] |
Excelent/Remision (1) for Abdominal pain & Diarrhea & Fever |
| Vedolizumab [Monoclonal antibodies] [Anti-Inflammatory agents] |
Absent (2) for Pure red cell aplasia; Protein-losing enteropathy. Excelent/Remision (1) for Abnormal weight loss & Diarrhea |
| Intravenous nutrition | Unspecified (2) for Dehydration; Malnutrition |
| Tamsulosin [Alpha-blocker] |
Unspecified (1) for unspecified |
| Nitrofurantoin [Antibiotics] |
Unspecified (1) for unspecified |
| Hip replacement [Surgery] |
Negative/Bad (1) for unspecified |
| transurethral Prostate resection [Surgery] |
Negative/Bad (1) for unspecified |
| Antiviral agent | Unspecified (4) for Abnormality of the gastric mucosa; (unusual) Cytomegalovirus infection. Negative/Bad (2) for (unusual) Cytomegalovirus infection. Mild (1) for Cytomegalovirus colitis. Good (1) for (unusual) Cytomegalovirus infection & Gastritis & Helicobacter pylori infection |
| Alpha-blocker | Unspecified (1) for unspecified |
| Anti-diabetic Agent | Unspecified (3) for Type I diabetes mellitus |
| Plasmapheresis | Mild (1) for Autoimmune thrombocytopenia. Unspecified (1) for unspecified |
| Intramuscular vitamin B12 | Excelent/Remision (1) for Anemia & Lymphadenopathy |
| Dialysis | Unspecified (1) for Renal insufficiency |
| Radiotherapy | Absent (1) for Diffuse large B-cell lymphoma |
| Hyper-CVAD | Unspecified (2) for unspecified |
| Testosterone enanthate | Unspecified (1) for unspecified |
| Diet | Moderate (1) for Celiac disease. Good (1) for Diarrhea |
| Antithyroid Drug | Unspecified (4) for unspecified; Hypothyroidism |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
345 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
| 101015 |
M | 210203 | 38 | 14 | Definitive | Germany | German | PMID:30250467 [MM.II.1]; PMID:29729943 [MM.II.1 (87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3]; PMID:34111452 [AM.II.1 (87)]; PMID:37740092 [P25] |
| 101036 |
F | 210182 |
56 | 45 | Definitive | Germany | Caucasian | PMID:25329329 [Fam.B:II.2(B.II.1)]; PMID:29729943 [Fam.B:II.2(B.II.1 (13))]; PMID:34975878 [Fam.F014:III.2(P014)]; PMID:27418640 [P12(5)]; PMID:34111452 [B.II.1 (13)]; PMID:37740092 [P01] |
| 101037 |
M | 210182 |
49 | 49 | Definitive | Germany | Caucasian | PMID:25329329 [Fam.B:II.4(B.II.3)]; PMID:30250467 [B.II.3]; PMID:29729943 [Fam.B:II.4(B.II.3 (15))]; PMID:27418640 [P13(5)]; PMID:34111452 [B.II.3 (15)]; PMID:39218359 [15] |
| 101038 |
F | 210182 |
43 | 34 | Definitive | Germany | Caucasian | PMID:25329329 [Fam.B:II.6(B.II.4)]; PMID:30250467 [B.II.4]; PMID:29729943 [Fam.B:II.6(B.II.4 (16))]; PMID:34975878 [Fam.F014:III.6(P015)]; PMID:27418640 [P14(5)]; PMID:34111452 [B.II.4 (16)] |
| 101039 |
F | 210182 |
17 | Definitive | Germany | Caucasian | PMID:25329329 [Fam.B:III.3(B.III.3)]; PMID:29729943 [Fam.B:III.4(B.III.3 (18))]; PMID:34111452 [B.III.3 (18)] | |
| 101040 |
F | 210724 |
20 | 9 | Definitive | Germany | Caucasian | PMID:29729943 [Fam.GG:II.1(GG.II.1 (79))]; PMID:31857261 [Patient 15]; PMID:34111452 [AG.II.1 (79)] |
| 101041 |
M | 210724 |
47 | Germany | Caucasian | PMID:29729943 [Fam.GG:I.1(GG.I.1 (78))]; PMID:34111452 [AG.I.1 (78)] | ||
| 101042 |
M | 210724 |
18 | Germany | Caucasian | PMID:29729943 [Fam.GG:II.2(GG.II.2 (80))]; PMID:34111452 [AG.II.2 (80)] | ||
| 101043 |
M | 210725 |
26 | 7 | Definitive | Germany | Caucasian | PMID:29729943 [Fam.H:II.2(H.II.2 (30))]; PMID:34975878 [Fam.F017:P017]; PMID:34111452 [H.II.2 (30)] |
| 101044 |
F | 210725 |
52 | 22 | Definitive | Germany | Caucasian | PMID:29729943 [Fam.H:I.2(H.I.2 (28))]; PMID:34111452 [H.I.2 (28)] |
| 101045 |
M | 210205 |
19 | 15 | Definitive | Germany | Caucasian | PMID:25329329 [Fam.A:III.13(A.III.3)]; PMID:29729943 [Fam.A:III.13(A.III.3 (9))]; PMID:34975878 [Fam.F018:III.2(P018)]; PMID:27418640 [P11(5)]; PMID:34111452 [A.III.3 (9)] |
| 101046 |
F | 210205 |
86 | Germany | Caucasian | PMID:25329329 [Fam.A:I.2(A.I.2)]; PMID:29729943 [Fam.A:I.2(A.I.2 (1))]; PMID:34111452 [A.I.2 (1)] | ||
| 101047 |
F | 210205 |
58 | Definitive | Germany | Caucasian | PMID:25329329 [Fam.A:II.5(A.II.3)]; PMID:29729943 [Fam.A:II.5(A.II.3 (3))]; PMID:34111452 [A.II.3 (3)] | |
| 101048 |
M | 210205 |
48 | Germany | Caucasian | PMID:25329329 [Fam.A:II.18(A.II.10)]; PMID:29729943 [Fam.A:II.18(A.II.10 (7))]; PMID:34111452 [A.II.10 (7)] | ||
| 101049 |
F | 210205 |
22 | Definitive | Germany | Caucasian | PMID:25329329 [Fam.A:III.15(A.III.5)]; PMID:29729943 [Fam.A:III.15(A.III.5 (10))]; PMID:34111452 [A.III.5 (10)] | |
| 101050 |
F | 210205 |
19 | Germany | Caucasian | PMID:25329329 [Fam.A:III.16(A.III.6)]; PMID:29729943 [Fam.A:III.16(A.III.6 (11))]; PMID:34975878 [Fam.F018:III.5(P020)]; PMID:34111452 [A.III.6 (11)] | ||
| 101051 |
F | 210205 |
27 | 10 | Definitive | Germany | Caucasian | PMID:25329329 [Fam.A:III.5(A.III.1)]; PMID:30250467 [A.III.1]; PMID:29729943 [Fam.A:III.5(A.III.1 (8))]; PMID:34975878 [Fam.F018:III.1(P021)]; PMID:27418640 [P10(5)]; PMID:34111452 [A.III.1 (8)] |
| 101087 |
M | 211335 | 35 | Possible | Germany | German | PMID:34975878 [Fam.F053:P053] | |
| 101090 |
M | 211257 | 41 | 38 | Germany | PMID:34975878 [Fam.F056:P056]; PMID:37740092 [P13]; PMID:39218359 [36] | ||
| 101128 |
M | 210897 | 24 | 18 | Possible | Germany | Caucasian | PMID:29729943 [OO.II.1 (95)]; PMID:34111452 [AO.II.1 (95)]; PMID:37740092 [P07] |
| 101155 |
M | 210235 | 28 | 10 | Definitive | Germany | German | PMID:30250467 [JJ.II.I]; PMID:29729943 [JJ.II.1 (83)]; PMID:34975878 [Fam.F098:P098]; PMID:34111452 [AJ.II.1 (83)] |
| 101199 |
F | 211483 | 14 | 3 | Disputed | Germany | German | PMID:29729943 [YY.II.1 (127)]; PMID:34975878 [Fam.F122:P122]; PMID:34111452 [AY.II.1 (127)]; PMID:37740092 [P10] |
| 101228 |
M | 210205 |
59 | Definitive | Germany | Caucasian | PMID:25329329 [Fam.A:II.3(A.II.2)]; PMID:29729943 [Fam.A:II.3(A.II.2 (2))]; PMID:34111452 [A.II.2 (2)] | |
| 101401 |
F | 210205 |
49 | 17 | Definitive | Germany | Caucasian | PMID:25329329 [Fam.A:II.17(A.II.9)]; PMID:29729943 [Fam.A:II.17(A.II.9 (6))]; PMID:27418640 [P9(5)]; PMID:34111452 [A.II.9 (6)] |
| 101425 |
M | 210205 |
55 | 41 | Definitive | Germany | Caucasian | PMID:25329329 [Fam.A:II.8(A.II.5)]; PMID:29729943 [Fam.A:II.8(A.II.5 (4))]; PMID:27418640 [P7(5)]; PMID:34111452 [A.II.5 (4)] |
| 101458 |
F | 210656 |
22 | 10 | Definitive | Germany | Georgian | PMID:25329329 [Fam.E:II.3(E.II.3)]; PMID:29729943 [E.II.3 (23)]; PMID:27418640 [P19(5)]; PMID:34111452 [E.II.3 (23)] |
| 101578 |
M | 210205 |
51 | 12 | Definitive | Germany | German | PMID:25329329 [Fam.A:II.14(A.II.8)]; PMID:29729943 [Fam.A:II.14(A.II.8 (5))]; PMID:27418640 [P8(5)]; PMID:34111452 [A.II.8 (5)] |
| 101628 |
F | 210955 |
16 | Definitive | Germany | Caucasian | PMID:29729943 [Fam.ZZ:I.2(ZZ.I.2 (128))]; PMID:34975878 [Fam.F217:P217]; PMID:34111452 [AZ.I.2 (128)] | |
| 101717 |
F | 210260 |
21 | 7 | Definitive | Greece | Caucasian | PMID:25329329 [Fam.C:II.3(C.II.3)]; PMID:29729943 [Fam.C:II.3(C.II.3 (19))]; PMID:27418640 [P16(5)]; PMID:34111452 [C.II.3 (19)] |
| 101718 |
F | 210260 |
12 | Definitive | Greece | Caucasian | PMID:25329329 [Fam.C:II.4(C.II.4)]; PMID:29729943 [Fam.C:II.4(C.II.4 (20))]; PMID:27418640 [P17(5)]; PMID:34111452 [C.II.4 (20)] | |
| 101722 |
F | 210261 |
21 | 10 | Definitive | United Kingdom | Asian | PMID:25329329 [Fam.D:II.1(D.II.1)]; PMID:29729943 [Fam.D:II.1(D.II.1 (22))]; PMID:27418640 [P18(5)]; PMID:34111452 [D.II.1 (22)] |
| 101723 |
F | 210261 |
42 | Definitive | United Kingdom | Asian | PMID:25329329 [Fam.D:I.2(D.I.2)]; PMID:29729943 [Fam.D:I.2(D.I.2 (21))]; PMID:34111452 [D.I.2 (21)] | |
| 101726 |
M | 210182 |
23 | 15 | Definitive | Germany | Caucasian | PMID:25329329 [Fam.B:II.3(B.II.2)]; PMID:29729943 [Fam.B:II.3(B.II.2 (14))]; PMID:34111452 [B.II.2 (14)] |
| 101744 |
F | 210182 |
16 | 10 | Germany | Caucasian | PMID:25329329 [Fam.B:III.2(B.III.2)]; PMID:29729943 [Fam.B:III.3(B.III.2 (17))]; PMID:27418640 [P15(5)]; PMID:34111452 [B.III.2 (17)] | |
| 101760 |
F | 210724 |
14 | Germany | Caucasian | PMID:29729943 [Fam.GG:II.3(GG.II.3 (81))]; PMID:34111452 [AG.II.3 (81)] | ||
| 101792 |
M | 210991 |
23 | 18 | Possible | Uruguay | Caucasian | PMID:29729943 [Fam.NN:II.11(NN.II.9 (92))]; PMID:34111452 [AN.II.9 (92)] |
| 101797 |
M | 211108 | 31 | 13 | Definitive | Germany | Caucasian | PMID:29729943 [QQ.II.1 (97)]; PMID:34975878 [Fam.F258:P258]; PMID:34111452 [AQ.II.1 (97)] |
| 101799 |
M | 211120 | 40 | 12 | Definitive | Belgium | Caucasian | PMID:30250467 [XX.II.1]; PMID:29729943 [XX.II.1 (126)]; PMID:34111452 [AX.II.1 (126)]; PMID:37740092 [P17] |
| 101801 |
M | 211151 | 23 | 7 | Definitive | Germany | German | PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20] |
| 101832 |
F | 210182 |
38 | Definitive | Germany | German | PMID:25329329 [Fam.B:III.1(B.III.1)]; PMID:29729943 [Fam.B:III.2(B.III.1)] | |
| 101915 |
F | 211935 | 50 | 32 | Definitive | Germany | PMID:34975878 [Fam.F341:P341] | |
| 102157 |
F | 214681 |
44 | 24 | Definitive | Italy | Italian | PMID:29729943 [Fam.R:II.5(R.II.5 (45))]; PMID:34111452 [R.II.5 (45)] |
| 102174 |
M | 210182 |
66 | Germany | Caucasian | PMID:25329329 [Fam.B:I.1(B.I.1)]; PMID:29729943 [Fam.B:I.1(B.I.1 (12))]; PMID:34111452 [B.I.1 (12)] | ||
| 102175 |
M | 210725 |
21 | 10 | Definitive | Germany | Caucasian | PMID:30250467 [H.II.1]; PMID:29729943 [Fam.H:II.1(H.II.1 (29))]; PMID:34111452 [H.II.1 (29)] |
| 102182 |
F | 214681 |
18 | Italy | Italian | PMID:29729943 [Fam.R:III.1(R.III.1 (46))]; PMID:34111452 [R.III.1 (46)] | ||
| 104786 |
F | 215573 |
22 | 2 | Definitive | PMID:25213377 [Fam.A:II.1(A.II.1)]; PMID:27418640 [P2(4)] | ||
| 104787 |
M | 215573 |
43 | 40 | Definitive | PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)] | ||
| 104790 |
M | 215574 |
38 | Definitive | PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)]; PMID:36191466 [Fam.:mentionedP] | |||
| 104791 |
M | 215575 |
23 | 10 | Definitive | PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)] | ||
| 104792 |
F | 215575 |
PMID:25213377 [Fam.C:I.2(C.I.1)] | |||||
| 104794 |
F | 215577 |
77 | PMID:25213377 [Fam.D:I.2(D.I.1)] | ||||
| 104795 |
M | 215577 |
PMID:25213377 [Fam.D:II.1(D.II.2)] | |||||
| 104796 |
M | 215577 |
46 | 10 | Definitive | PMID:25213377 [Fam.D:II.4(D.II.1)]; PMID:27418640 [P5(4)] | ||
| 104797 |
M | 215577 |
11 | 6 | Definitive | PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)] | ||
| 104838 |
M | 215578 |
26 | 8 | Definitive | Germany | Caucasian | PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [F.II.1 (24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56]; PMID:34111452 [F.II.1 (24)] |
| 104886 |
F | 215613 |
24 | 12 | Definitive | U.S.A. | Caucasian | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)]; PMID:34111452 [G.III.1 (26)] |
| 104889 |
F | 215613 |
53 | U.S.A. | Caucasian | PMID:29729943 [Fam.G:II.2(G.II.1 (25))]; PMID:25367873 [Fam.1:II.6(II.6)]; PMID:34111452 [G.II.1 (25)] | ||
| 104916 |
M | 215613 |
22 | 2 | Definitive | U.S.A. | Caucasian | PMID:30250467 [G.III.2]; PMID:29729943 [Fam.G:III.2(G.III.2 (27))]; PMID:25367873 [Fam.1:III.5(III.5)]; PMID:34111452 [G.III.2 (27)] |
| 105043 |
F | 215630 |
17 | 1 | Possible | U.S.A. | Caucasian | PMID:27379089 [P9(II.1)]; PMID:29729943 [BBB.II.1 (131)]; PMID:34111452 [CH.II.1 (131)] |
| 105044 |
F | 215630 |
U.S.A. | Caucasian | PMID:27379089 [Fam.P9:I.1(mother)] | |||
| 105045 |
M | 215631 |
24 | 14 | Possible | U.S.A. | Caucasian | PMID:27379089 [P10]; PMID:29729943 [CCC.II.1 (132)]; PMID:34111452 [CI.II.1 (132)] |
| 105088 |
M | 215638 |
35 | 10 | Definitive | Japan | Japanese | PMID:26644313 [Fam.P:II.3(case)]; PMID:30250467 [M.II.3]; PMID:29729943 [M.II.3 (37)]; PMID:27418640 [P21(16)]; PMID:34111452 [M.II.3 (37)]; PMID:35087518 [11.1] |
| 105103 |
F | 215641 |
14 | 0 | South Korea | South Korean | PMID:26478010 [Fam.1:III.2(Patient)] | |
| 105172 |
M | 215659 |
22 | 2 | Definitive | United Kingdom | Caucasian | PMID:29729943 [T.II.1 (48)]; PMID:27102614 [Fam.A:II.1(P1)]; PMID:34111452 [T.II.1 (48)]; PMID:39218359 [6] |
| 105175 |
M | 215660 | 23 | 10 | Definitive | United Kingdom | Caucasian | PMID:29729943 [Q.II.1 (44)]; PMID:27102614 [Fam.B:I.1(P2)]; PMID:34111452 [Q.II.1 (44)]; PMID:39218359 [5] |
| 105176 |
F | 215661 |
20 | 5 | Definitive | United Kingdom | Caucasian | PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(P3)]; PMID:34111452 [L.II.1 (35)]; PMID:39218359 [3] |
| 105177 |
M | 215661 |
16 | 14 | Definitive | United Kingdom | Caucasian | PMID:30250467 [L.II.2]; PMID:29729943 [Fam.L:II.2(L.II.2 (36))]; PMID:27102614 [Fam.C:II.2(P4)]; PMID:34111452 [L.II.2 (36)]; PMID:39218359 [20] |
| 105179 |
F | 215661 |
40 | 20 | Definitive | United Kingdom | Caucasian | PMID:29729943 [Fam.L:I.2(L.I.2 (34))]; PMID:27102614 [Fam.C:I.2(mother)]; PMID:34111452 [L.I.2 (34)] |
| 105180 |
M | 215662 |
28 | 2 | Definitive | United Kingdom | Caucasian | PMID:29729943 [S.II.1 (47)]; PMID:27102614 [Fam.D:II.1(P5)]; PMID:34111452 [S.II.1 (47)]; PMID:39218359 [4] |
| 105185 |
M | 215663 |
20 | 7 | Definitive | U.S.A. | PMID:27102614 [Fam.E:III.1(P6)]; PMID:30940614 [P7] | |
| 105190 |
F | 215664 |
35 | 1 | Definitive | U.S.A. | Caucasian | PMID:27102614 [Fam.F:II.1(P7)] |
| 105191 |
F | 215664 |
33 | 23 | Definitive | U.S.A. | Caucasian | PMID:27102614 [Fam.F:II.2(P8)] |
| 105273 |
F | 215682 | 18 | 16 | Possible | U.S.A. | North American | GRID:000111 [Patient(I.1)]; PMID:34111452 [BI.II.1 (146)] |
| 105336 |
M | 215698 | 46 | 23 | Definitive | Switzerland | Caucasian | PMID:29729943 [AAA.II.1 (130)]; PMID:27908448 [Patient]; PMID:34111452 [BA.II.1 (130)] |
| 105363 |
F | 215722 |
15 | 6 | Definitive | U.S.A. | Afro-American | PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)]; PMID:34111452 [X.II.1 (59)] |
| 105365 |
F | 215722 |
55 | U.S.A. | Afro-American | PMID:29729943 [Fam.X:I.2(X.I.2 (58))]; PMID:28366794 [Fam.A:I.2(mother)]; PMID:34111452 [X.I.2 (58)] | ||
| 105367 |
M | 215724 |
6 | Possible | U.S.A. | European | PMID:27577878 [14.1] | |
| 105368 |
M | 215724 |
U.S.A. | European | PMID:27577878 [Fam.14.1:I.1(father)] | |||
| 105370 |
F | 215725 |
21 | 16 | Possible | Norway | Caucasian | PMID:29729943 [Fam.Z:III.1(Z.III.1 (67))]; PMID:27577878 [15.1]; PMID:34111452 [Z.III.1 (67)] |
| 105372 |
F | 215725 |
50 | Norway | Caucasian | PMID:29729943 [Fam.Z:II.2(Z.II.1 (63))]; PMID:27577878 [Fam.15.1:I.2(mother)]; PMID:34111452 [Z.II.1 (63)] | ||
| 105373 |
F | 215726 |
24 | Definitive | Norway | Norwegian | PMID:27577878 [46.1] | |
| 105375 |
M | 215726 |
Norway | Norwegian | PMID:27577878 [Fam.46.1:I.1(father)] | |||
| 105533 |
M | 215791 |
45 | 9 | Definitive | Portugal | Portuguese | PMID:29225858 [Patient] |
| 105542 |
M | 215796 | 71 | 48 | Definitive | United Kingdom | PMID:28983403 [P6]; PMID:34111452 [BL.II.1 (149)]; PMID:37740092 [P04] | |
| 105543 |
M | 215797 | 30 | Definitive | United Kingdom | PMID:28983403 [P7]; PMID:34111452 [BM.II.1 (150)] | ||
| 105546 |
M | 215800 |
13 | 8 | Definitive | Spain | Caucasian | PMID:29867916 [N211(II.1)]; PMID:29729943 [O.II.1 (42)]; PMID:34111452 [O.II.1 (42)]; PMID:39218359 [38] |
| 105549 |
F | 215801 |
21 | 11 | U.S.A. | Caucasian | PMID:29200144 [Fam.1:IV.1(P1)] | |
| 105551 |
F | 215801 |
U.S.A. | Caucasian | PMID:29200144 [Fam.1:III.2(mother)] | |||
| 105553 |
F | 215801 |
U.S.A. | Caucasian | PMID:29200144 [Fam.1:II.2(grandmother)] | |||
| 105907 |
M | 215904 |
22 | 11 | Possible | Germany | Caucasian | PMID:29729943 [Fam.J:II.1(J.II.1 (32))]; PMID:34111452 [J.II.1 (32)] |
| 105908 |
F | 215904 |
50 | Germany | Caucasian | PMID:29729943 [Fam.J:I.2(J.I.2 (31))]; PMID:34111452 [J.I.2 (31)] | ||
| 105910 |
F | 215905 | 53 | 26 | Possible | Germany | Caucasian | PMID:30250467 [K.II.1]; PMID:29729943 [K.II.1 (33)]; PMID:34111452 [K.II.1 (33)] |
| 105926 |
M | 215909 |
10 | 10 | Possible | Japan | Japanese | PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:34111452 [N.III.2 (41)]; PMID:35087518 [Fam.12:III.2(12.4)] |
| 105928 |
F | 215909 |
71 | Japan | Japanese | PMID:29729943 [Fam.N:I.2(N.I.2 (38))]; PMID:34111452 [N.I.2 (38)]; PMID:35087518 [Fam.12:I.2(12.1)] | ||
| 105930 |
F | 215909 |
47 | Japan | Japanese | PMID:29729943 [Fam.N:II.2(N.II.1 (39))]; PMID:34111452 [N.II.1 (39)]; PMID:35087518 [Fam.12:II.1(12.2)] | ||
| 105932 |
M | 215909 |
42 | Japan | Japanese | PMID:29729943 [Fam.N:II.4(N.II.3 (40))]; PMID:34111452 [N.II.3 (40)]; PMID:35087518 [Fam.12:II.3(12.3)] | ||
| 105957 |
M | 215914 | 13 | 2 | Possible | Germany | Caucasian | PMID:29729943 [P.II.2 (43)]; PMID:34111452 [P.II.2 (43)]; PMID:39218359 [12] |
| 105968 |
M | 215916 |
11 | 4 | Definitive | Japan | Japanese | PMID:29729943 [Fam.U:II.1(U.II.1 (50))]; PMID:30048690 [Fam.1:II.1(P1.2)]; PMID:34111452 [U.II.1 (50)]; PMID:35087518 [Fam.13:II.1(13.2)]; PMID:28960754 [CTLA4-Case1] |
| 105969 |
M | 215916 |
40 | Definitive | Japan | Japanese | PMID:29729943 [Fam.U:I.1(U.I.I (49))]; PMID:30048690 [Fam.1:I.1(P1.1)]; PMID:34111452 [U.I.1 (49)]; PMID:35087518 [Fam.13:I.1(13.1)] | |
| 105971 |
M | 215916 |
8 | Definitive | Japan | Japanese | PMID:29729943 [Fam.U:II.2(U.II.2 (51))]; PMID:30048690 [Fam.1:II.2(P1.3)]; PMID:34111452 [U.II.2 (51)]; PMID:35087518 [Fam.13:II.2(13.3)] | |
| 105972 |
F | 215916 |
6 | Definitive | Japan | Japanese | PMID:29729943 [Fam.U:II.3(U.II.3 (52))]; PMID:30048690 [Fam.1:II.3(P1.4)]; PMID:34111452 [U.II.3 (52)]; PMID:35087518 [Fam.13:II.3(13.4)] | |
| 105973 |
F | 215917 | 12 | 9 | Definitive | Japan | Japanese | PMID:29729943 [V.II.1 (53)]; PMID:34111452 [V.II.1 (53)]; PMID:35087518 [14.1]; PMID:28960754 [CTLA4-Case2] |
| 105974 |
M | 215918 |
43 | 19 | Definitive | Japan | Japanese | PMID:29729943 [Fam.W:I.1(W.I.1 (54))]; PMID:30048690 [Fam.2:I.1(P2.1)]; PMID:34111452 [W.I.1 (54)]; PMID:35087518 [Fam.15:I.1(15.1)] |
| 105976 |
M | 215918 |
16 | Japan | Japanese | PMID:29729943 [Fam.W:II.1(W.II.1 (55))]; PMID:34111452 [W.II.1 (55)]; PMID:35087518 [Fam.15:II.1(15.2)] | ||
| 105977 |
F | 215918 |
14 | 9 | Definitive | Japan | Japanese | PMID:29729943 [Fam.W:II.2(W.II.2 (56))]; PMID:30048690 [Fam.2:II.2(P2.2)]; PMID:34111452 [W.II.2 (56)]; PMID:35087518 [Fam.15:II.2(15.3)] |
| 105978 |
F | 215918 |
6 | 4 | Definitive | Japan | Japanese | PMID:29729943 [Fam.W:II.3(W.II.3 (57))]; PMID:30048690 [Fam.2:II.3(P2.3)]; PMID:34111452 [W.II.3 (57)]; PMID:35087518 [Fam.15:II.3(15.4)] |
| 105979 |
M | 215919 |
49 | Definitive | Germany | Caucasian | PMID:29729943 [Fam.Y:I.1(Y.I.1 (60))]; PMID:34111452 [Y.I.1 (60)] | |
| 105981 |
M | 215919 |
20 | 10 | Definitive | Germany | Caucasian | PMID:29729943 [Fam.Y:II.1(Y.II.1 (61))]; PMID:34111452 [Y.II.1 (61)]; PMID:39218359 [8] |
| 105982 |
F | 215920 |
45 | Definitive | Japan | Japanese | PMID:29729943 [Fam.BB:I.2(BB.I.2 (70))]; PMID:30048690 [Fam.6:I.2(P6.1)]; PMID:34111452 [AB.I.2 (70)]; PMID:35087518 [Fam.17:I.2(17.1)] | |
| 105984 |
F | 215920 |
20 | Japan | Japanese | PMID:29729943 [Fam.BB:II.1(BB.II.1 (71))]; PMID:34111452 [AB.II.1 (71)]; PMID:35087518 [Fam.17:II.1(17.2)] | ||
| 105985 |
F | 215920 |
17 | 10 | Definitive | Japan | Japanese | PMID:29729943 [Fam.BB:II.2(BB.II.2 (72))]; PMID:30048690 [Fam.6:II.2(P6.2)]; PMID:34111452 [AB.II.2 (72)]; PMID:35087518 [Fam.17:II.2(17.3)] |
| 106016 |
F | 215725 |
81 | Norway | Caucasian | PMID:29729943 [Fam.Z:I.2(Z.I.2 (62))]; PMID:34111452 [Z.I.2 (62)] | ||
| 106017 |
M | 215725 |
49 | 43 | Possible | Norway | Caucasian | PMID:29729943 [Fam.Z:II.3(Z.II.2 (64))]; PMID:34111452 [Z.II.2 (64)] |
| 106018 |
F | 215725 |
Norway | Caucasian | PMID:29729943 [Fam.Z:II.4(Z.II.3 (65))]; PMID:34111452 [Z.II.3 (65)] | |||
| 106021 |
M | 215725 |
Norway | Caucasian | PMID:29729943 [Fam.Z:II.7(Z.II.6 (66))] | |||
| 106023 |
M | 215923 |
18 | 18 | Definitive | Japan | Japanese | PMID:29729943 [Fam.AA:IV.1(AA.IV.1 (69))]; PMID:30048690 [Fam.4:IV.1(P4.2)]; PMID:34111452 [AA.IV.1 (69)]; PMID:35087518 [Fam.16:IV.1(16.2)] |
| 106034 |
M | 215923 |
46 | Japan | Japanese | PMID:29729943 [Fam.AA:III.3(AA.III.3 (68))]; PMID:30048690 [Fam.4:III.3(P4.1)]; PMID:34111452 [AA.III.3 (68)]; PMID:35087518 [Fam.16:III.3(16.1)] | ||
| 106036 |
F | 215924 | 43 | 10 | Definitive | Japan | Japanese | PMID:29729943 [CC.II.1 (73)]; PMID:30048690 [Fam.5:II.1(P5.1)]; PMID:34111452 [AC.II.1 (73)]; PMID:35087518 [18.1] |
| 106037 |
M | 215925 |
15 | 13 | Definitive | Japan | Japanese | PMID:29729943 [Fam.DD:II.1(DD.II.1 (75))]; PMID:30048690 [Fam.3:II.1(P3.2)]; PMID:34111452 [AD.II.1 (75)]; PMID:35087518 [Fam.19:II.1(19.2)] |
| 106039 |
F | 215925 |
37 | Japan | Japanese | PMID:29729943 [Fam.DD:I.2(DD.I.2 (74))]; PMID:30048690 [Fam.3:I.2(P3.1)]; PMID:34111452 [AD.I.2 (74)]; PMID:35087518 [Fam.19:I.2(19.1)] | ||
| 106041 |
M | 215926 | 18 | 11 | Possible | Netherlands | Caucasian | PMID:29729943 [EE.II.1 (76)]; PMID:34111452 [AE.II.1 (76)] |
| 106042 |
M | 215927 | 22 | 6 | Definitive | U.S.A. | North American | PMID:30250467 [FF.II.1]; PMID:29729943 [FF.II.1 (77)]; PMID:34111452 [AF.II.1 (77)] |
| 106043 |
F | 215928 | 28 | 2 | Possible | U.S.A. | Afro-American | PMID:29729943 [HH.II.1 (82)]; PMID:34111452 [AH.II.1 (82)] |
| 106044 |
F | 215929 |
36 | 21 | Definitive | Czech Republic | Caucasian | PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))]; PMID:34111452 [AK.II.1 (85)]; PMID:37740092 [P14] |
| 106045 |
M | 215929 |
58 | Czech Republic | Caucasian | PMID:29729943 [Fam.KK:I.1(KK.I.1 (84))]; PMID:34111452 [AK.I.1 (84)] | ||
| 106047 |
F | 215930 | 14 | 1 | Definitive | Czech Republic | Caucasian | PMID:29729943 [LL.II.1 (86)]; PMID:34111452 [AL.II.1 (86)]; PMID:39218359 [13] |
| 106048 |
M | 210991 |
61 | 12 | Possible | Uruguay | Caucasian | PMID:29729943 [Fam.NN:I.1(NN.I.1 (88))]; PMID:34111452 [AN.I.1 (88)] |
| 106051 |
F | 210991 |
Possible | Uruguay | Caucasian | PMID:29729943 [Fam.NN:II.2(NN.II.1 (89))]; PMID:34111452 [AN.II.1 (89)] | ||
| 106057 |
F | 210991 |
29 | 23 | Possible | Uruguay | Caucasian | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))]; PMID:34111452 [AN.II.6 (90)] |
| 106060 |
F | 210991 |
20 | 13 | Possible | Uruguay | Caucasian | PMID:29729943 [Fam.NN:II.10(NN.II.8 (91))]; PMID:34111452 [AN.II.8 (91)] |
| 106061 |
F | 210991 |
17 | Uruguay | Caucasian | PMID:29729943 [Fam.NN:II.12(NN.II.10 (93))]; PMID:34111452 [AN.II.10 (93)] | ||
| 106062 |
M | 210991 |
21 | 6 | Possible | Uruguay | Caucasian | PMID:29729943 [Fam.NN:II.13(NN.II.11 (94))]; PMID:34111452 [AN.II.11 (94)] |
| 106068 |
M | 215931 | 40 | 8 | Definitive | Canada | Caucasian | PMID:29729943 [PP.II.1 (96)]; PMID:34111452 [AP.II.1 (96)] |
| 106069 |
F | 215932 |
16 | 14 | Definitive | U.S.A. | Caucasian | PMID:29729943 [RR.II.1 (98)]; PMID:34111452 [AR.II.1 (98)]; PMID:28601686 [P9(II.1)] |
| 106070 |
F | 215933 | 27 | 15 | Definitive | U.S.A. | Caucasian | PMID:29729943 [SS.II.1 (99)]; PMID:34111452 [AS.II.1 (99)]; PMID:30087679 [S6] |
| 106071 |
M | 215934 |
50 | 5 | Possible | Czech Republic | Caucasian | PMID:29729943 [Fam.TT:I.2(TT.I.1 (100))]; PMID:34111452 [AT.I.1 (100)] |
| 106075 |
M | 215934 |
26 | 21 | Possible | Czech Republic | Caucasian | PMID:29729943 [Fam.TT:II.2(TT.II.2 (101))]; PMID:34111452 [AT.II.2 (101)] |
| 106076 |
F | 215934 |
24 | 11 | Possible | Czech Republic | Caucasian | PMID:29729943 [Fam.TT:II.3(TT.II.3 (102))]; PMID:34111452 [AT.II.3 (102)] |
| 106077 |
M | 215934 |
10 | 4 | Possible | Czech Republic | Caucasian | PMID:29729943 [Fam.TT:II.4(TT.II.4 (103))]; PMID:34111452 [AT.II.4 (103)]; PMID:39218359 [25] |
| 106078 |
M | 215934 |
6 | 1 | Possible | Czech Republic | Caucasian | PMID:29729943 [Fam.TT:II.5(TT.II.5 (104))]; PMID:34111452 [AT.II.5 (104)] |
| 106094 |
M | 215947 |
13 | 7 | Possible | Saudi Arabia | Saudi | PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))]; PMID:34111452 [AV.II.1 (124)] |
| 106095 |
M | 215947 |
Saudi Arabia | Saudi | PMID:29729943 [Fam.VV:I.1(VV.I.1 (123))]; PMID:34111452 [AV.I.1 (123)] | |||
| 106097 |
M | 215948 | 12 | 8 | Definitive | United Kingdom | Caucasian | PMID:29729943 [WW.II.1 (125)]; PMID:34111452 [AW.II.1 (125)]; PMID:39218359 [9] |
| 106099 |
M | 210955 |
19 | 16 | Definitive | Germany | Caucasian | PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))]; PMID:34111452 [AZ.II.1 (129)] |
| 106100 |
F | 215949 | 38 | 38 | Possible | U.S.A. | Caucasian | PMID:29729943 [DDD.II.1 (133)]; PMID:34111452 [CJ.II.1 (133)] |
| 106240 |
F | 215977 |
34 | 0 | Definitive | Spain | Caucasian | PMID:29729943 [Fam.UU:IV.14(UU.IV.12 (120))]; PMID:29305966 [Fam.1:IV.2(IV.2)]; PMID:34111452 [AU.IV.12 (120)] |
| 106246 |
F | 215977 |
63 | 14 | Definitive | Spain | Caucasian | PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.1:III.2(III.2)]; PMID:34111452 [AU.III.7 (111)] |
| 106248 |
F | 215977 |
53 | Definitive | Spain | Caucasian | PMID:29729943 [Fam.UU:III.15(UU.III.10 (113))]; PMID:29305966 [Fam.1:III.4(III.5)]; PMID:34111452 [AU.III.10 (113)] | |
| 106249 |
F | 215977 |
64 | Definitive | Spain | Caucasian | PMID:29729943 [Fam.UU:III.9(UU.III.6 (110))]; PMID:29305966 [Fam.1:III.5(III.6)]; PMID:34111452 [AU.III.6 (110)] | |
| 106250 |
M | 215977 |
68 | 57 | Definitive | Spain | Caucasian | PMID:29729943 [Fam.UU:III.5(UU.III.4 (109))]; PMID:29305966 [Fam.1:III.6(III.8)]; PMID:34111452 [AU.III.4 (109)] |
| 106251 |
M | 215977 |
55 | Definitive | Spain | Caucasian | PMID:29729943 [Fam.UU:III.13(UU.III.9 (112))]; PMID:29305966 [Fam.1:III.7(III.3)]; PMID:34111452 [AU.III.9 (112)]; PMID:39218359 [35] | |
| 106256 |
F | 215977 |
Possible | Spain | Caucasian | PMID:30250467 [UU.III.3]; PMID:29729943 [Fam.UU:III.4(UU.III.3 (108))]; PMID:29305966 [Fam.1:III.9(III.11)]; PMID:34111452 [AU.III.3 (108)] | ||
| 106259 |
F | 215977 |
65 | 6 | Definitive | Spain | Caucasian | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.1:III.12(III.4)]; PMID:34111452 [AU.III.2 (107)] |
| 106264 |
M | 215977 |
40 | Definitive | Spain | Caucasian | PMID:29729943 [Fam.UU:IV.11(UU.IV.10 (119))]; PMID:29305966 [Fam.1:IV.5(IV.11)]; PMID:34111452 [AU.IV.10 (119)] | |
| 106268 |
M | 215977 |
38 | Spain | Caucasian | PMID:29729943 [Fam.UU:IV.10(UU.IV.9 (118))]; PMID:29305966 [Fam.1:IV.6(IV.10)]; PMID:34111452 [AU.IV.9 (118)] | ||
| 106274 |
M | 215977 |
42 | 31 | Definitive | Spain | Caucasian | PMID:29729943 [Fam.UU:IV.2(UU.IV.2 (115))]; PMID:29305966 [Fam.1:IV.11(IV.7)]; PMID:34111452 [AU.IV.2 (115)] |
| 106275 |
M | 215977 |
33 | Definitive | Spain | Caucasian | PMID:29729943 [Fam.UU:IV.5(UU.IV.4 (117))]; PMID:29305966 [Fam.1:IV.12(IV.6)]; PMID:34111452 [AU.IV.4 (117)] | |
| 106276 |
M | 215977 |
46 | Definitive | Spain | Caucasian | PMID:29729943 [Fam.UU:IV.1(UU.IV.1 (114))]; PMID:29305966 [Fam.1:IV.13(IV.8)]; PMID:34111452 [AU.IV.1 (114)] | |
| 106277 |
F | 215977 |
40 | Definitive | Spain | Caucasian | PMID:29729943 [Fam.UU:IV.4(UU.IV.3 (116))]; PMID:29305966 [Fam.1:IV.14(IV.4)]; PMID:34111452 [AU.IV.3 (116)] | |
| 106279 |
M | 215977 |
3 | 1 | Definitive | Spain | Caucasian | PMID:29729943 [Fam.UU:V.2(UU.V.2 (122))]; PMID:29305966 [Fam.1:V.1(V.1)]; PMID:34111452 [AU.V.2 (122)] |
| 106281 |
M | 215977 |
10 | 0 | Definitive | Spain | Caucasian | PMID:29729943 [Fam.UU:V.1(UU.V.1 (121))]; PMID:29305966 [Fam.1:V.3(V.3)]; PMID:34111452 [AU.V.1 (121)] |
| 106348 |
M | 215995 | 61 | 30 | Possible | PMID:30250467 [CO.I.1]; PMID:34111452 [CO.I.1 (173)] | ||
| 106349 |
F | 215996 |
25 | 1 | Definitive | PMID:30250467 [CM.II.2]; PMID:34111452 [Fam.CM:II.2(CM.II.2 (171))] | ||
| 106350 |
M | 215996 |
60 | 60 | PMID:30250467 [CM.I.2]; PMID:34111452 [Fam.CM:I.3] | |||
| 106351 |
F | 215997 | 24 | 19 | Possible | PMID:30250467 [CZ.II.2] | ||
| 106358 |
M | 216000 |
26 | 3 | Possible | Japan | Japanese | PMID:31993940 [Patient(II.1)] |
| 106371 |
M | 216004 |
23 | Possible | PMID:29375547 [Fam.A:II.1(A.II.1)] | |||
| 106372 |
M | 216004 |
PMID:29375547 [Fam.A:I.13(A.I.1)] | |||||
| 106390 |
M | 216005 |
24 | 4 | Definitive | Iran | Iranian | PMID:32996901 [Patient(II.1)] |
| 106393 |
F | 216006 |
9 | Possible | Germany | German | PMID:36273440 [III.3(III.3)] | |
| 106399 |
M | 216006 |
51 | 51 | Germany | German | PMID:36273440 [Fam.III.3:II.4] | |
| 106402 |
F | 216006 |
22 | 9 | Germany | German | PMID:36273440 [Fam.III.3:III.2] | |
| 106485 |
U | 216038 | Definitive | France | PMID:30940614 [P8] | |||
| 106486 |
U | 216039 | Possible | France | PMID:30940614 [P10] | |||
| 106487 |
U | 216040 | Definitive | France | PMID:30940614 [P11] | |||
| 106488 |
U | 216041 | Possible | France | PMID:30940614 [P12] | |||
| 106489 |
U | 216042 | Possible | France | PMID:30940614 [P13] | |||
| 106490 |
U | 216043 | Possible | France | PMID:30940614 [P14] | |||
| 106496 |
F | 216046 |
17 | Definitive | U.S.A. | Caucasian | PMID:31156616 [Fam.A:II.3(A.II.2)] | |
| 106497 |
F | 216046 |
48 | Definitive | U.S.A. | Caucasian | PMID:31156616 [Fam.A:I.1(A.I.1)] | |
| 106499 |
F | 216046 |
24 | Definitive | U.S.A. | Caucasian | PMID:31156616 [Fam.A:II.2(A.II.1)] | |
| 106500 |
F | 216046 |
0 | U.S.A. | Caucasian | PMID:31156616 [Fam.A:III.1(A.III.1)] | ||
| 106501 |
M | 216047 |
10 | Definitive | U.S.A. | Caucasian | PMID:31156616 [Fam.B:II.2(B.II.1)] | |
| 106502 |
F | 216047 |
U.S.A. | Caucasian | PMID:31156616 [Fam.B:I.1(B.I.1)] | |||
| 106507 |
F | 216049 |
57 | 31 | Definitive | PMID:34111452 [BE.I.1 (134)] | ||
| 106508 |
F | 216049 |
29 | 27 | Definitive | PMID:34111452 [BE.II.1 (135)] | ||
| 106509 |
F | 216049 |
19 | PMID:34111452 [BE.II.3 (136)] | ||||
| 106510 |
F | 216050 | 4 | 4 | Definitive | PMID:34111452 [BF.I.1 (137)] | ||
| 106511 |
M | 216051 | 30 | 28 | Definitive | PMID:34111452 [BG.I.1 (138)] | ||
| 106512 |
M | 216052 | 22 | 15 | Definitive | PMID:34111452 [BH.II.1 (139)] | ||
| 106513 |
M | 216052 | 25 | Definitive | PMID:34111452 [BH.II.2 (140)] | |||
| 106514 |
M | 216052 | 53 | Definitive | PMID:34111452 [BH.I.1 (141)] | |||
| 106515 |
M | 216052 | 60 | Definitive | PMID:34111452 [BH.I.2 (142)] | |||
| 106516 |
M | 216052 | 49 | Definitive | PMID:34111452 [BH.I.3 (143)] | |||
| 106517 |
F | 216052 | 34 | Definitive | PMID:34111452 [BH.II.5 (144)] | |||
| 106518 |
M | 216052 | Definitive | PMID:34111452 [BH.II.7 (145)] | ||||
| 106520 |
F | 216054 | 11 | 11 | Definitive | PMID:34111452 [BJ.II.1 (147)] | ||
| 106521 |
M | 216055 | 7 | 2 | Definitive | PMID:34111452 [BK.I.1 (148)] | ||
| 106524 |
M | 216058 | 32 | 20 | Possible | PMID:34111452 [BN.II.1 (151)] | ||
| 106525 |
M | 216059 | 17 | 17 | Definitive | PMID:34111452 [BO.II.1 (152)] | ||
| 106526 |
F | 216060 |
48 | 46 | Definitive | PMID:34111452 [BP.I.1 (153)] | ||
| 106527 |
F | 216060 |
28 | 25 | Definitive | PMID:34111452 [BP.II.1 (154)] | ||
| 106528 |
F | 216060 |
56 | PMID:34111452 [BP.II.2 (155)] | ||||
| 106529 |
M | 216061 | 10 | 9 | Definitive | PMID:34111452 [BQ.II.1 (156)] | ||
| 106530 |
M | 216062 | 7 | 2 | Possible | PMID:34111452 [BT.II.1 (157)] | ||
| 106531 |
F | 216063 | 16 | Definitive | PMID:34111452 [BU.II.1 (158)] | |||
| 106533 |
F | 216065 | 10 | Possible | PMID:34111452 [BZ.II.1 (160)] | |||
| 106534 |
F | 216066 | Possible | PMID:34111452 [CA.II.1 (161)] | ||||
| 106535 |
F | 216067 | 13 | 13 | Definitive | PMID:34111452 [CB.II.1 (162)] | ||
| 106536 |
F | 216068 |
24 | 24 | Possible | PMID:34111452 [CE.II.1 (164)] | ||
| 106537 |
F | 216068 |
40 | PMID:34111452 [CE.I.1 (163)] | ||||
| 106538 |
M | 216069 | 10 | 10 | Possible | PMID:34111452 [CF.II.1 (165)] | ||
| 106540 |
F | 216071 | 6 | 1 | Definitive | PMID:34111452 [CK.I.1 (167)] | ||
| 106541 |
M | 216072 | 3 | 2 | Possible | PMID:34111452 [CL.II.1 (168)] | ||
| 106542 |
F | 215996 |
1 | 1 | Definitive | PMID:34111452 [Fam.CM:II.1(CM.II.1 (170))] | ||
| 106543 |
F | 215996 |
58 | PMID:34111452 [Fam.CM:I.2(CM.I.1 (169))] | ||||
| 106545 |
M | 216074 | 5 | 4 | Disputed | PMID:34111452 [CN.II.1 (172)] | ||
| 106592 |
M | 216085 |
16 | 6 | Definitive | Germany | PMID:34116213 [Fam.A:II.1(P1)] | |
| 106594 |
F | 216085 |
38 | Definitive | Germany | PMID:34116213 [Fam.A:I.2(P3)] | ||
| 106595 |
F | 216086 |
15 | 8 | Definitive | Germany | PMID:34116213 [Fam.B:P2]; PMID:39218359 [23] | |
| 106642 |
F | 216097 |
4 | 2 | Definitive | Australia | European | PMID:31396201 [P1(II.1)] |
| 106646 |
M | 216099 |
16 | 18 | Definitive | Canada | PMID:34628649 [Patient(III.1)] | |
| 106652 |
F | 216099 |
Definitive | Canada | PMID:34628649 [Fam.Patient:III.2(Sister)] | |||
| 106697 |
F | 216110 | 16 | Definitive | Japan | Japanese | PMID:30048690 [Fam.7:7.1]; PMID:35087518 [Fam.20:20.1] | |
| 106700 |
F | 216113 |
28 | Definitive | Japan | Japanese | PMID:35087518 [Fam.22:22.1]; PMID:34707038 [Patient(II.1)] | |
| 106703 |
F | 216114 | 29 | Possible | Japan | Japanese | PMID:35087518 [Fam.21:II.1(21.2)] | |
| 106705 |
M | 216114 | 64 | Japan | Japanese | PMID:35087518 [Fam.21:I.1(21.1)] | ||
| 106707 |
M | 216114 | 29 | Japan | Japanese | PMID:35087518 [Fam.21:II.2(21.3)] | ||
| 106708 |
F | 216115 | 43 | Definitive | Japan | Japanese | PMID:35087518 [Fam.23:23.1] | |
| 106709 |
F | 216116 | 47 | Possible | Japan | Japanese | PMID:35087518 [Fam.24:24.1] | |
| 106710 |
M | 216117 | 7 | Possible | Japan | Japanese | PMID:35087518 [Fam.25:25.1] | |
| 106711 |
F | 216118 | 47 | Possible | Japan | Japanese | PMID:35087518 [Fam.26:26.1] | |
| 106778 |
M | 216129 | Unclear | Egypt | Egyptian | PMID:35482138 [Fam.149:159] | ||
| 106779 |
F | 216130 | Unclear | Egypt | Egyptian | PMID:35482138 [Fam.150:160] | ||
| 106780 |
F | 216131 | Unclear | Egypt | Egyptian | PMID:35482138 [Fam.151:161] | ||
| 106781 |
F | 216132 | Unclear | Egypt | Egyptian | PMID:35482138 [Fam.152:162] | ||
| 106782 |
M | 216133 | Unclear | Egypt | Egyptian | PMID:35482138 [Fam.153:163] | ||
| 106783 |
F | 216134 | Unclear | Egypt | Egyptian | PMID:35482138 [Fam.154:164] | ||
| 106784 |
F | 216135 | Unclear | Egypt | Egyptian | PMID:35482138 [Fam.155:165] | ||
| 106785 |
M | 216136 | Unclear | Egypt | Egyptian | PMID:35482138 [Fam.156:166] | ||
| 106795 |
F | 216146 | Possible | Finland | Swedish | PMID:37740092 [P02] | ||
| 106796 |
M | 216147 | Possible | Germany | Georgian | PMID:37740092 [P03] | ||
| 106797 |
F | 216148 | 52 | Possible | Germany | German | PMID:37740092 [P06] | |
| 106798 |
F | 216149 | Definitive | Canada | French | PMID:37740092 [P08] | ||
| 106799 |
M | 216150 | 23 | Possible | Germany | German | PMID:37740092 [P09] | |
| 106800 |
F | 216151 | 43 | Unclear | U.S.A. | North American | PMID:37740092 [P15] | |
| 106801 |
M | 216152 | 17 | Definitive | Germany | Caucasian | PMID:37740092 [P16] | |
| 106802 |
F | 216153 | 53 | Possible | U.S.A. | Caucasian | PMID:37740092 [P21] | |
| 106803 |
F | 216154 | 19 | Possible | Germany | German | PMID:37740092 [P22] | |
| 106804 |
F | 216155 | 46 | Definitive | Germany | German | PMID:37740092 [P23] | |
| 106805 |
F | 216156 | 20 | Disputed | Germany | German | PMID:37740092 [P24] | |
| 106840 |
M | 216167 | 23 | 16 | Possible | SouthEast Asian | PMID:35242131 [P3] | |
| 106944 |
U | 216190 | Disputed | PMID:37740092 [P12] | ||||
| 106945 |
M | 216191 | Definitive | Finland | PMID:37740092 [P05] | |||
| 106947 |
F | 216193 | Disputed | Germany | German | PMID:37740092 [P11]; PMID:37740092 [P11] | ||
| 106948 |
F | 216194 | 32 | Definitive | Germany | German | PMID:37740092 [P18] | |
| 107108 |
F | 216337 | 33 | 24 | Possible | Germany | German | PMID:34619682 [P.165]; PMID:34111452 [BY.II.1 (159)] |
| 107109 |
F | 216338 | 23 | 16 | Possible | Germany | German | PMID:34619682 [P.215]; PMID:34111452 [CG.II.1 (166)] |
| 107302 |
M | 216427 | 21 | Possible | U.S.A. | PMID:30087679 [S4] | ||
| 107303 |
F | 216428 | 49 | Possible | U.S.A. | PMID:30087679 [S5] | ||
| 107304 |
F | 216429 |
23 | 2 | Definitive | Italy | Italian | PMID:30326257 [Patient]; PMID:32927079 [Patient] |
| 107307 |
U | 216430 | Definitive | France | PMID:30940614 [P9] | |||
| 107433 |
F | 216483 | Unclear | Italy | Italian | PMID:37740092 [P19] | ||
| 107434 |
M | 216484 | 13 | Disputed | Germany | Caucasian | PMID:37740092 [P26] | |
| 107435 |
M | 216485 | 0 | 0 | Possible | PMID:38351878 [Fam.A:III.2(P1)] | ||
| 107439 |
M | 216485 | 29 | PMID:38351878 [Fam.A:II.2(father)] | ||||
| 107442 |
M | 216486 | 13 | 11 | Possible | PMID:38351878 [Fam.B:II.1(P2)] | ||
| 107447 |
F | 216487 |
25 | 12 | Definitive | Taiwan | Asian | PMID:34824019 [Patient(II.1)] |
| 107451 |
U | 216488 | 32 | 6 | Possible | PMID:37487754 [P1] | ||
| 107452 |
U | 216489 | 17 | 3 | Possible | PMID:37487754 [P2] | ||
| 107453 |
F | 216490 | 59 | 36 | Possible | PMID:37487754 [P3] | ||
| 107454 |
U | 216491 | 38 | 6 | Possible | PMID:37487754 [P4] | ||
| 107455 |
F | 216492 | 48 | Unclear | PMID:37487754 [P5] | |||
| 107456 |
U | 216493 | 32 | 4 | Possible | PMID:37487754 [P6] | ||
| 107457 |
U | 216494 | 29 | 12 | Possible | PMID:37487754 [P7] | ||
| 107458 |
U | 216495 | 26 | 15 | Possible | PMID:37487754 [P8] | ||
| 107459 |
U | 216496 | 39 | 25 | Possible | PMID:37487754 [P9] | ||
| 107460 |
U | 216497 | 56 | 35 | Possible | PMID:37487754 [P10] | ||
| 107461 |
U | 216498 | 11 | 0 | Possible | PMID:37487754 [P11] | ||
| 107462 |
U | 216499 | 30 | 5 | Possible | PMID:37487754 [P12] | ||
| 107463 |
U | 216500 | 20 | 1 | Possible | PMID:37487754 [P13] | ||
| 107464 |
M | 216501 | Possible | PMID:36191466 [P7] | ||||
| 107473 |
M | 216506 | 12 | Definitive | U.S.A. | PMID:33864888 [S092] | ||
| 107475 |
M | 216507 | 9 | 3 | Possible | U.S.A. | PMID:33864888 [S175] | |
| 107476 |
M | 216508 | 16 | Definitive | U.S.A. | PMID:33864888 [S190] | ||
| 107484 |
F | 216511 |
26 | 6 | Definitive | Turkey | Turkish | PMID:37595759 [Fam.F2:II.1(CM3)]; PMID:35491430 [Fam.F2:II.1(CM3)]; PMID:28601686 [P7(II.1)] |
| 107485 |
F | 216511 |
60 | 20 | Definitive | Turkey | Turkish | PMID:37595759 [Fam.F2:I.1(CM4)]; PMID:35491430 [Fam.F2:I.1(CM4)]; PMID:28601686 [Fam.P7:I.2(P8)] |
| 107487 |
M | 216512 | 30 | 12 | Possible | Turkey | PMID:37595759 [Fam.F1:I.1(CM1)]; PMID:35491430 [Fam.F1:I.1(CM1)] | |
| 107488 |
M | 216512 | 6 | 4 | Turkey | PMID:37595759 [Fam.F1:II.1(CM2)]; PMID:35491430 [Fam.F1:II.1(CM2)] | ||
| 107489 |
M | 216513 | 8 | 1 | Possible | Turkey | PMID:37595759 [Fam.F3:CM5]; PMID:35491430 [Fam.F3:CM5] | |
| 107490 |
M | 216514 | 8 | 0 | Possible | Turkey | PMID:37595759 [Fam.F4:CM6]; PMID:35491430 [Fam.F4:CM6] | |
| 107491 |
F | 216515 | 13 | 13 | Possible | Turkey | PMID:37595759 [Fam.F5:II.1(CM7)]; PMID:35491430 [Fam.F5:II.1(CM7)] | |
| 107492 |
F | 216515 | 42 | 10 | Turkey | Turkish | PMID:37595759 [Fam.F5:I.1(CM8)]; PMID:35491430 [Fam.F5:I.1(CM8)] | |
| 107493 |
M | 216516 | 10 | 9 | Possible | Turkey | PMID:37595759 [Fam.F6:CM9]; PMID:35491430 [Fam.F6:CM9] | |
| 107494 |
M | 216517 | 9 | 8 | Possible | Turkey | PMID:37595759 [Fam.F7:II.2(CM10)]; PMID:35491430 [Fam.F7:II.2(CM10)] | |
| 107495 |
M | 216517 | 46 | Turkey | Turkish | PMID:37595759 [Fam.F7:I.1(CM12)]; PMID:35491430 [Fam.F7:I.1(CM12)] | ||
| 107496 |
M | 216517 | 8 | 3 | Turkey | PMID:37595759 [Fam.F7:II.1(CM11)]; PMID:35491430 [Fam.F7:II.1(CM11)] | ||
| 107497 |
U | 216518 | 2 | 0 | Possible | Turkey | PMID:37595759 [Fam.F8:CM13] | |
| 107498 |
U | 216519 | 23 | 11 | Possible | Turkey | PMID:37595759 [Fam.F9:CM14] | |
| 107499 |
U | 216520 | 20 | 7 | Possible | Turkey | PMID:37595759 [Fam.F10:CM15] | |
| 107500 |
U | 216521 | 18 | 3 | Possible | Turkey | PMID:37595759 [Fam.F11:I.1(CM16)] | |
| 107501 |
U | 216522 | 12 | 0 | Possible | Turkey | PMID:37595759 [Fam.F12:II.1(CM17)] | |
| 107502 |
U | 216522 | 42 | Turkey | Turkish | PMID:37595759 [Fam.F12:I.1(CM18)] | ||
| 107506 |
U | 216521 | 15 | 11 | Turkey | PMID:37595759 [Fam.F11:I.2(CM19)] | ||
| 107507 |
U | 216526 | 33 | 7 | Possible | Turkey | PMID:37595759 [Fam.F13:CM20] | |
| 107508 |
U | 216527 | 10 | 8 | Possible | Turkey | PMID:37595759 [Fam.F14:CM21] | |
| 107509 |
U | 216528 | 24 | 10 | Possible | Turkey | PMID:37595759 [Fam.F15:II.2(CM22)] | |
| 107510 |
U | 216528 | 53 | 41 | Turkey | Turkish | PMID:37595759 [Fam.F15:I.1(CM23)] | |
| 107511 |
U | 216528 | 28 | 13 | Turkey | Turkish | PMID:37595759 [Fam.F15:II.1(CM24)] | |
| 107512 |
U | 216529 | 23 | 2 | Possible | Turkey | PMID:37595759 [Fam.F16:I.1(CM25)] | |
| 107513 |
U | 216529 | 24 | 9 | Turkey | Turkish | PMID:37595759 [Fam.F16:I.2(CM26)] | |
| 107514 |
U | 216530 | 16 | 1 | Possible | Turkey | PMID:37595759 [Fam.F17:CM27] | |
| 107515 |
U | 216531 | 27 | 25 | Possible | Turkey | PMID:37595759 [Fam.F18:I.1(CM28)] | |
| 107516 |
U | 216531 | 23 | 23 | Turkey | PMID:37595759 [Fam.F18:I.2(CM29)] | ||
| 107517 |
U | 216532 | 44 | 13 | Possible | Turkey | PMID:37595759 [Fam.F19:CM30] | |
| 107518 |
U | 216533 | 15 | 15 | Possible | Turkey | PMID:37595759 [Fam.F20:II.1(CM31)] | |
| 107519 |
U | 216533 | 46 | Turkey | Turkish | PMID:37595759 [Fam.F20:I.1(CM32)] | ||
| 107520 |
U | 216534 | 14 | 3 | Possible | Turkey | PMID:37595759 [Fam.F21:II.1(CM33)] | |
| 107521 |
U | 216534 | 42 | 40 | Turkey | PMID:37595759 [Fam.F21:I.1(CM34)] | ||
| 107522 |
U | 216534 | 13 | Turkey | Turkish | PMID:37595759 [Fam.F21:II.2(CM35)] | ||
| 107527 |
M | 216537 | 17 | Possible | PMID:39218359 [1] | |||
| 107528 |
M | 216538 | 17 | Possible | PMID:39218359 [2] | |||
| 107529 |
M | 216539 | 26 | Possible | PMID:39218359 [7] | |||
| 107530 |
M | 216540 | 2 | Possible | PMID:39218359 [10] | |||
| 107531 |
M | 216541 | 11 | Possible | PMID:39218359 [11] | |||
| 107532 |
M | 216542 | 4 | Possible | PMID:39218359 [14] | |||
| 107533 |
M | 216543 | 14 | Possible | PMID:39218359 [16] | |||
| 107534 |
F | 216544 | 44 | 44 | Possible | PMID:39218359 [17] | ||
| 107535 |
F | 216545 | 22 | Possible | PMID:39218359 [18] | |||
| 107536 |
F | 216546 | 22 | Possible | PMID:39218359 [19] | |||
| 107537 |
M | 216547 | 6 | Possible | PMID:39218359 [21] | |||
| 107538 |
F | 216548 | 1 | Unclear | PMID:39218359 [22] | |||
| 107539 |
F | 216549 | 10 | Unclear | PMID:39218359 [24] | |||
| 107540 |
M | 216550 | 11 | Possible | PMID:39218359 [26] | |||
| 107541 |
F | 216551 | 10 | Possible | PMID:39218359 [27] | |||
| 107542 |
M | 216552 | 17 | Possible | PMID:39218359 [28] | |||
| 107543 |
M | 216553 | 8 | Possible | PMID:39218359 [29] | |||
| 107544 |
F | 216554 | 7 | Possible | PMID:39218359 [30] | |||
| 107545 |
F | 216555 | 16 | Possible | PMID:39218359 [31] | |||
| 107546 |
M | 216556 | 8 | Definitive | PMID:39218359 [32] | |||
| 107547 |
F | 216557 | 34 | Possible | PMID:39218359 [33] | |||
| 107548 |
M | 216558 | 7 | Possible | PMID:39218359 [34] | |||
| 107549 |
F | 216559 | 12 | Possible | PMID:39218359 [37] | |||
| 107550 |
M | 216560 | 14 | Possible | PMID:39218359 [39] | |||
| 107551 |
M | 216561 | 7 | Possible | PMID:39218359 [40] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).