Information on AIPDS
Name: Autoinflammation, panniculitis, and dermatosis syndrome | Acronym: AIPDS
Alt. names: otulipenia | ORAS | OTULIN-related autoinflammatory syndrome
Gene: OTULIN | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 9 | First reported in: 2016
Last updated on: 2023-12-01 by Andrés Caballero-Oteyza
Description
Early-onset systemic autoinflammatory condition in which the majority of individuals presented with episodes of unexplained fevers, elevated CRP levels, leukocytosis and neutrophilia, but also panniculitis and lipodystrophy, rashes and neutrophilic infiltration of the skin, and arthritis/arthralgias. Patients often exhibit no overt evidence of immunodeficiency.
Management
All reported individuals responded positively to steroids to some extent. However, these were often not durable responses, while all patients who were trialed on TNF inhibition showed at least moderate, if not robustly, positive responses. By comparison, anakinra, colchicine, ruxolitinib and methotrexate elicited only partial clinical responses in one individual at most (PMID: 27523608, 27559085, 35170849)
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Abnormal C-reactive protein level |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Acute phase response |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Systemic autoinflammation |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Fever |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Autoinflammation |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Elevated C-reactive protein |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Dermatitis |
8 (88.9%) | 0 (0.0%) | 1 (11.1%) |
| 8 | Leukocytosis |
8 (88.9%) | 0 (0.0%) | 1 (11.1%) |
| 9 | Abnormal leukocyte count |
8 (88.9%) | 0 (0.0%) | 1 (11.1%) |
| 10 | Increased inflammatory response |
8 (88.9%) | 0 (0.0%) | 1 (11.1%) |
| 11 | Abnormal adipose tissue morphology |
7 (77.8%) | 0 (0.0%) | 2 (22.2%) |
| 12 | Panniculitis |
7 (77.8%) | 0 (0.0%) | 2 (22.2%) |
| 13 | Decreased body weight |
6 (66.7%) | 0 (0.0%) | 3 (33.3%) |
| 14 | Failure to thrive |
6 (66.7%) | 0 (0.0%) | 3 (33.3%) |
| 15 | Skin rash |
6 (66.7%) | 0 (0.0%) | 3 (33.3%) |
| 16 | Metabolism abnormality |
5 (55.6%) | 0 (0.0%) | 4 (44.4%) |
| 17 | Abnormal lymphoproliferation |
5 (55.6%) | 2 (22.2%) | 2 (22.2%) |
| 18 | Pain |
5 (55.6%) | 0 (0.0%) | 4 (44.4%) |
| 19 | Abnormality of temperature regulation |
5 (55.6%) | 0 (0.0%) | 4 (44.4%) |
| 20 | Hypergammaglobulinaemia |
5 (55.6%) | 0 (0.0%) | 4 (44.4%) |
| 21 | Abnormal neutrophil count |
5 (55.6%) | 0 (0.0%) | 4 (44.4%) |
| 22 | Neutrophilia |
5 (55.6%) | 0 (0.0%) | 4 (44.4%) |
| 23 | Abnormal spleen morphology |
4 (44.4%) | 3 (33.3%) | 2 (22.2%) |
| 24 | Neutrophilic infiltration of the skin |
4 (44.4%) | 0 (0.0%) | 5 (55.6%) |
| 25 | Arthralgia |
4 (44.4%) | 0 (0.0%) | 5 (55.6%) |
| 26 | Abnormal circulating IgA level |
4 (44.4%) | 1 (11.1%) | 4 (44.4%) |
| 27 | Abnormal joint morphology |
4 (44.4%) | 0 (0.0%) | 5 (55.6%) |
| 28 | Recurrent fevers |
4 (44.4%) | 0 (0.0%) | 5 (55.6%) |
| 29 | Visceromegaly |
4 (44.4%) | 2 (22.2%) | 3 (33.3%) |
| 30 | Lung disease |
4 (44.4%) | 2 (22.2%) | 3 (33.3%) |
| 31 | Diarrhea |
4 (44.4%) | 2 (22.2%) | 3 (33.3%) |
| 32 | edema |
4 (44.4%) | 0 (0.0%) | 5 (55.6%) |
| 33 | Increased IgA levels |
4 (44.4%) | 0 (0.0%) | 5 (55.6%) |
| 34 | Localized skin lesion |
4 (44.4%) | 0 (0.0%) | 5 (55.6%) |
| 35 | Abdominal symptom |
4 (44.4%) | 2 (22.2%) | 3 (33.3%) |
| 36 | Skin nodule |
3 (33.3%) | 0 (0.0%) | 6 (66.7%) |
| 37 | Abnormal liver morphology |
3 (33.3%) | 2 (22.2%) | 4 (44.4%) |
| 38 | Septicaemia |
3 (33.3%) | 0 (0.0%) | 6 (66.7%) |
| 39 | Global developmental delay |
3 (33.3%) | 0 (0.0%) | 6 (66.7%) |
| 40 | Enteropathy |
3 (33.3%) | 2 (22.2%) | 4 (44.4%) |
| 41 | Lipodystrophy |
3 (33.3%) | 0 (0.0%) | 6 (66.7%) |
| 42 | Arthritis |
3 (33.3%) | 0 (0.0%) | 6 (66.7%) |
| 43 | Pneumonia |
3 (33.3%) | 2 (22.2%) | 4 (44.4%) |
| 44 | Erythema |
3 (33.3%) | 0 (0.0%) | 6 (66.7%) |
| 45 | Vascular skin abnormality |
3 (33.3%) | 0 (0.0%) | 6 (66.7%) |
| 46 | Abscess |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 47 | Elevated serum GGT levels |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 48 | Seizures |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 49 | Elevated circulating ALT levels |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 50 | Cataract |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 51 | Abnormality of the lens |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 52 | Hepatic steatosis |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 53 | Tube feeding |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 54 | Abnormal circulating ferritin concentration |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 55 | Neonatal sepsis |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 56 | Lymphadenopathy |
2 (22.2%) | 1 (11.1%) | 6 (66.7%) |
| 57 | (unusual) Respiratory tract infection |
2 (22.2%) | 2 (22.2%) | 5 (55.6%) |
| 58 | Pulmonary edema |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 59 | Hepatopathy |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 60 | Abnormal circulating IgG level |
2 (22.2%) | 3 (33.3%) | 4 (44.4%) |
| 61 | Abnormal circulating IgM level |
2 (22.2%) | 2 (22.2%) | 5 (55.6%) |
| 62 | Increased serum complement C3 |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 63 | Abnormal GGT levels |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 64 | Abnormality of prenatal development or birth |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 65 | Joint swelling |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 66 | Hepatosplenomegaly |
2 (22.2%) | 2 (22.2%) | 5 (55.6%) |
| 67 | Myalgia |
2 (22.2%) | 1 (11.1%) | 6 (66.7%) |
| 68 | Growth abnormality |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 69 | Elevated hepatic transaminases |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 70 | Vomiting |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 71 | Nausea and vomiting |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 72 | Azotemia |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 73 | Increased IgM levels |
2 (22.2%) | 1 (11.1%) | 6 (66.7%) |
| 74 | Abnormality of the lymph nodes |
2 (22.2%) | 1 (11.1%) | 6 (66.7%) |
| 75 | ASMA positivity |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 76 | Abnormality of complement system |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 77 | Growth delay |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 78 | Premature birth |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 79 | Lipid accumulation in hepatocytes |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 80 | Hyperferritinemia |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 81 | Feeding difficulties in infancy |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 82 | Increased IgG level |
2 (22.2%) | 2 (22.2%) | 5 (55.6%) |
| 83 | Abnormal weight loss |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 84 | Autoimmune antibody positivity |
2 (22.2%) | 4 (44.4%) | 3 (33.3%) |
| 85 | Abdominal pain |
2 (22.2%) | 2 (22.2%) | 5 (55.6%) |
| 86 | Nasogastric tube feeding in infancy |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 87 | Neurodevelopmental delay |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 88 | Papulopustular Rash |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 89 | Grand mal seizures |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 90 | Finger swelling |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 91 | Dependency on intravenous nutrition |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 92 | Red eye |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 93 | Abnormal parotid gland morphology |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 94 | Increased circulating IL-6 |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 95 | Abnormality of the chin |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 96 | Conjunctival hyperemia |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 97 | Hypertelorism |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 98 | Abnormality of the pinna |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 99 | Protruding ear |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 100 | Salivary gland abnormality |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 101 | Abnormal nasal bridge morphology |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 102 | Wide nasal bridge |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 103 | Prominent nose |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 104 | Elevated circulating AST levels |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 105 | Abnormal blood urea nitrogen concentration |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 106 | Abnormal pulmonary thoracic imaging finding |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 107 | Eosinophilic dermal infiltration |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 108 | Abnormal conjunctiva morphology |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 109 | Past medical history |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 110 | Abnormal eyebrow morphology |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 111 | Hematopoietic stem cell transplantation |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 112 | Renal necrosis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 113 | Thick eyebrow |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 114 | Abnormal blood vessel morphology |
1 (11.1%) | 3 (33.3%) | 5 (55.6%) |
| 115 | Persistent fever |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 116 | Carious teeth |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 117 | Behavioral abnormality |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 118 | Localized osteoporosis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 119 | Abnormal skin morphology of the palm |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 120 | Cortical cataract |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 121 | Abnormal blood phosphate concentration |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 122 | Scarring |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 123 | Abnormality of globe location |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 124 | Osteoporosis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 125 | Cyanosis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 126 | Atypical scarring of skin |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 127 | Hematuria |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 128 | Dermatological manifestations of systemic disorders |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 129 | Congenital hydrocele |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 130 | Parotitis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 131 | Abnormality of finger |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 132 | Antineutrophil antibodies |
1 (11.1%) | 1 (11.1%) | 7 (77.8%) |
| 133 | Spongiosis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 134 | Epidermal spongiosis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 135 | Increased serum complement C1q |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 136 | Cutaneous lymphocytic infiltrates |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 137 | Gastrointestinal ulcers |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 138 | RSV pneumonia |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 139 | Gluteal abscess |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 140 | Vasculitis |
1 (11.1%) | 3 (33.3%) | 5 (55.6%) |
| 141 | Past surgical history |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 142 | Atrial septal defect |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 143 | Abnormal circulating interleukin 6 concentration |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 144 | Severe viral infection |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 145 | Normocytic anemia |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 146 | Acidosis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 147 | Metabolic acidosis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 148 | Dyspnea |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 149 | Abnormal pleura morphology |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 150 | Pulmonary infiltrates |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 151 | Hyperkalemia |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 152 | Coarse hair |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 153 | Abnormal duodenum morphology |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 154 | Lymphocytosis |
1 (11.1%) | 1 (11.1%) | 7 (77.8%) |
| 155 | Splenomegaly |
1 (11.1%) | 1 (11.1%) | 7 (77.8%) |
| 156 | Increased number of B cells |
1 (11.1%) | 1 (11.1%) | 7 (77.8%) |
| 157 | Gastrointestinal dysmotility |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 158 | Duodenal ulcer |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 159 | Abnormal respiratory system physiology |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 160 | Abnormality of the upper limb |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 161 | Lymphadenitis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 162 | Hyperphosphatemia |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 163 | Respiratory system abnormality |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 164 | Increased blood urea nitrogen |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 165 | Elevated circulating alkaline phosphatase concentration |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 166 | Elevated circulating creatinine concentration |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 167 | Renal insufficiency |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 168 | Acute kidney failure |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 169 | Anemia |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 170 | Predominantly lower limb lymphedema |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 171 | Herpes Simplex Virus Infection |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 172 | Obesity |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 173 | Increased body weight |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 174 | Abnormality of alkaline phosphatase level |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 175 | Hepatomegaly |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 176 | Abnormal nasal morphology |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 177 | Abnormal cardiac atrium morphology |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 178 | Sialadenitis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 179 | Intestinal obstruction |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 180 | Pneumothorax |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 181 | Respiratory insufficiency |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 182 | Hyperuricemia |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 183 | Cachexia |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 184 | erythema nodosum |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 185 | Respiratory failure |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 186 | Varicella zoster virus infection |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 187 | proteinuria |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 188 | Renal tubular epithelial necrosis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 189 | (unusual) Viral infection |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 190 | Abnormal monocyte count |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 191 | Abnormal B cell count |
1 (11.1%) | 2 (22.2%) | 6 (66.7%) |
| 192 | Monocytosis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 193 | Ileus |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 194 | Lung abscess |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 195 | cirrhosis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 196 | Cutaneous abscess |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 197 | Abnormal salivary gland morphology |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 198 | Abnormality of hair texture |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 199 | Edema of the upper limbs |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 200 | Lymphoedema |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
Age of onset
distribution
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|---|
| Immunosuppressive agents | Absent (3) for unspecified. Moderate (3) for unspecified. Good (2) for Elevated C-reactive protein & Fever & Systemic autoinflammation; Elevated C-reactive protein & Fever & Leukocytosis & Neutrophilia & Skin rash & Systemic autoinflammation; Systemic autoinflammation; unspecified. Excelent/Remision (2) for Diarrhea & Fever & Skin rash; Systemic autoinflammation. Mild (1) for unspecified. Unspecified (1) for unspecified |
| Infliximab [Anti-TNF drug] [Monoclonal antibodies] |
Good (1) for Elevated C-reactive protein & Fever & Leukocytosis & Neutrophilia & Skin rash & Systemic autoinflammation |
| Anti-TNF drug [Immunosuppressive agents] |
Good (2) for Elevated C-reactive protein & Fever & Leukocytosis & Neutrophilia & Skin rash & Systemic autoinflammation; Systemic autoinflammation. Moderate (1) for unspecified. Excelent/Remision (1) for Systemic autoinflammation |
| Adalimumab [Anti-TNF drug] [Monoclonal antibodies] |
Good (1) for Systemic autoinflammation |
| Corticosteroids [Immunosuppressive agents] [Anti-Inflammatory agents] |
Moderate (3) for unspecified. Absent (2) for unspecified. Good (2) for Elevated C-reactive protein & Fever & Systemic autoinflammation; unspecified. Mild (1) for unspecified. Excelent/Remision (1) for Diarrhea & Fever & Skin rash. Unspecified (1) for unspecified |
| Azathioprine [Immunosuppressive agents] |
Absent (2) for unspecified |
| Methotrexate [Immunosuppressive agents] |
Absent (3) for unspecified |
| Prednisolone [Corticosteroids] |
Absent (2) for Diarrhea & Fever & Skin rash; unspecified. Mild (1) for Systemic autoinflammation. Good (1) for unspecified |
| Methylprednisolone [Corticosteroids] |
Moderate (1) for unspecified. Excelent/Remision (1) for Diarrhea & Fever & Skin rash. Unspecified (1) for unspecified |
| Anakinra [Interleukin Receptor Antagonist] |
Absent (3) for unspecified; Systemic autoinflammation. Good (1) for unspecified |
| Interleukin Receptor Antagonist | Absent (3) for unspecified; Systemic autoinflammation. Good (1) for unspecified |
| Azithromycin [Antibiotics] |
Unspecified (1) for unspecified |
| Acyclovir [Antiviral agent] |
Unspecified (1) for unspecified |
| Antibiotics | Absent (2) for Systemic autoinflammation; unspecified. Unspecified (1) for unspecified |
| Colchicine | Negative/Bad (1) for unspecified. Mild (1) for Systemic autoinflammation |
| Anti-Inflammatory agents | Absent (1) for Diarrhea & Fever & Skin rash. Mild (1) for Systemic autoinflammation |
| Hematopoietic stem cell transplantation | Excelent/Remision (1) for Arthritis & Diarrhea & Fever & Panniculitis & Systemic autoinflammation. Unspecified (1) for unspecified |
| Etanercept [Anti-TNF drug] |
Moderate (1) for unspecified. Excelent/Remision (1) for Systemic autoinflammation |
| Antiviral agent | Unspecified (1) for unspecified |
9 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
| 104554 |
M | 215551 |
11 | 0 | Pakistan | Pakistani | PMID:27523608 [Fam.1:V.2(V:2)]; PMID:27559085 [Fam.1:V.2(P1)]; PMID:35587511 [Fam.G:II.2(4)]; PMID:34797715 [P1]; PMID:38914362 [Fam.A:V.2(023)] | |
| 104568 |
F | 215551 |
1 | 0 | Pakistan | Pakistani | PMID:27523608 [Fam.1:IV.3(IV:3)]; PMID:32231246 [IV:3(IV.3)]; PMID:27559085 [Fam.1:IV.1(P4)]; PMID:38914362 [Fam.A:V.6(027)] | |
| 104570 |
F | 215551 |
5 | 0 | Pakistan | Pakistani | PMID:27523608 [Fam.1:IV.4(IV:4)]; PMID:27559085 [Fam.1:IV.3(NA)]; PMID:38914362 [Fam.A:V.7(028)] | |
| 104575 |
F | 215552 |
4 | 0 | Turkey | Turkish | PMID:27559085 [Fam.2:II.1(P2)]; PMID:35587511 [Fam.I:II.2(4)]; PMID:34797715 [P2]; PMID:38914362 [Fam.B:II.1(035)] | |
| 104580 |
F | 215553 |
11 | 0 | Turkey | Turkish | PMID:27559085 [Fam.3:II.1(P3)]; PMID:35587511 [Fam.H:II.1(3)]; PMID:34797715 [P3]; PMID:38914362 [Fam.C:II.1(039)] | |
| 104583 |
F | 215554 |
12 | 0 | Israel | Arab | PMID:30804083 [Patient(III.2)]; PMID:35587511 [Fam.K:II.2(4)]; PMID:38914362 [Fam.D:IV.2(049)] | |
| 104592 |
F | 215555 |
1 | 0 | Iran | Iranian | PMID:30796585 [Patient(V.3)]; PMID:35587511 [Fam.J:II.3(5)]; PMID:38914362 [Fam.E:V.3(065)] | |
| 104612 |
M | 215557 |
7 | 1 | Germany | Greek | PMID:35170849 [Patient(II.2)]; PMID:38914362 [Fam.F:II.2(069)] | |
| 105135 |
F | 215649 |
1 | 0 | Morocco | Moroccan | PMID:38914362 [Fam.M:II.1(107)] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).