Information on CVID1
Name: Immunodeficiency, common variable, 1 | Acronym: CVID1
Alt. names: ICOS deficiency
Gene: ICOS | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 18 | First reported in: 2003
Last updated on: 2023-02-28 by
Description
A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins - the numbers of circulating B-cells is usually in the normal range, but can be low.
Management
Antiinfectious prophylaxis (including with administration of IVIG) and early and aggressive treatment of infections may be beneficial.
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 | Hypogammaglobulinemia |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | (unusual) Respiratory tract infection |
8 (72.7%) | 0 (0.0%) | 3 (27.3%) |
| 3 | Abnormal immunoglobulin level |
8 (72.7%) | 0 (0.0%) | 3 (27.3%) |
| 4 | Lung disease |
7 (63.6%) | 0 (0.0%) | 4 (36.4%) |
| 5 | Pneumonia |
7 (63.6%) | 0 (0.0%) | 4 (36.4%) |
| 6 | Increased inflammatory response |
7 (63.6%) | 0 (0.0%) | 4 (36.4%) |
| 7 | Abnormal spleen morphology |
5 (45.5%) | 0 (0.0%) | 6 (54.6%) |
| 8 | Splenomegaly |
5 (45.5%) | 0 (0.0%) | 6 (54.6%) |
| 9 | Abnormal lymphoproliferation |
5 (45.5%) | 0 (0.0%) | 6 (54.6%) |
| 10 | Visceromegaly |
5 (45.5%) | 0 (0.0%) | 6 (54.6%) |
| 11 | Decreased IgA levels |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 12 | Decreased IgG levels |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 13 | Unusual infection by anatomical site |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 14 | Recurrent upper respiratory tract infections |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 15 | Abnormal circulating IgA level |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 16 | Abnormal circulating IgG level |
4 (36.4%) | 0 (0.0%) | 7 (63.6%) |
| 17 | Recurrent respiratory infections |
3 (27.3%) | 0 (0.0%) | 8 (72.7%) |
| 18 | (unusual) Bacterial infection |
3 (27.3%) | 0 (0.0%) | 8 (72.7%) |
| 19 | Herpes Simplex Virus Infection |
3 (27.3%) | 0 (0.0%) | 8 (72.7%) |
| 20 | Abnormal cell proliferation |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 21 | Abnormal lymphocyte physiology |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 22 | Reduced NK cell number |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 23 | Abnormal liver morphology |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 24 | Hepatopathy |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 25 | Abnormal circulating IgM level |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 26 | Lymphoid hyperplasia |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 27 | Unusual virus reactivation |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 28 | Decreased IgM levels |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 29 | Neutropenia |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 30 | Recurrent viral infections |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 31 | Intestinal lymphoid nodular hyperplasia |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 32 | (unusual) Viral infection |
2 (18.2%) | 1 (9.1%) | 8 (72.7%) |
| 33 | Unusual infection |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 34 | Abnormal NK cell count |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 35 | Salmonella infection |
2 (18.2%) | 0 (0.0%) | 9 (81.8%) |
| 36 | Decreased proportion of switched memory B cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 37 | Abnormal bronchus morphology |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 38 | Abscess |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 39 | Abnormal proportion of naive B cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 40 | Decreased proportion of memory B cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 41 | Abnormal proportion of class-switched memory B cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 42 | Vulvar neoplasm |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 43 | Dermatitis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 44 | Abnormal paranasal sinus morphology |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 45 | Sinusitis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 46 | Reduced ab-response to tetanus vaccine |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 47 | negative ab-response to diphtheria vaccine |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 48 | Opportunistic infection |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 49 | Colitis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 50 | Abnormal immune system morphology |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 51 | Increased blood pressure |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 52 | Atopic dermatitis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 53 | Recurrent lower respiratory tract infections |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 54 | Hepatic steatosis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 55 | Thrombocytopenia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 56 | Lymphadenopathy |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 57 | Autoimmune neutropenia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 58 | Abnormal proportion of naive CD4 T cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 59 | Abnormal proportion of effector memory CD8+, alpha-beta T cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 60 | Decreased proportion of CD8-positive, alpha-beta memory T cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 61 | Lymphopenia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 62 | Common variable immunodeficiency |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 63 | Large granular lymphocytic leukemia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 64 | Psoriasiform dermatitis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 65 | Reduced number of B cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 66 | Increased proportion of naive B cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 67 | Increased proportion of CD8 T cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 68 | Lymphocytosis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 69 | Leukocytosis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 70 | Digestive and excretory system abnormality |
1 (9.1%) | 1 (9.1%) | 9 (81.8%) |
| 71 | Immunodeficiency |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 72 | Abnormality of the lymph nodes |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 73 | Bronchiectasis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 74 | Warts |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 75 | Autoimmune cytopenia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 76 | Enteropathy |
1 (9.1%) | 1 (9.1%) | 9 (81.8%) |
| 77 | Recurrent impetigo |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 78 | Squamous cell carcinoma of the vulva |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 79 | (unusual) Giardiasis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 80 | Campylobacter infection |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 81 | Herpes keratitis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 82 | Meningoencephalitis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 83 | Reduced proportion of naive CD4 T cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 84 | Abnormality of the gastric mucosa |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 85 | Atopy |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 86 | Increased proportion of effector mem. CD8 T cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 87 | Reduced proportion of effector mem. CD8 T cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 88 | Urticaria |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 89 | Hepatomegaly |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 90 | Aspergillosis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 91 | Lipid accumulation in hepatocytes |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 92 | Diarrhea |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 93 | Leukopenia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 94 | proteinuria |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 95 | Protozoan infection |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 96 | Constrictive median neuropathy |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 97 | Bronchitis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 98 | Inflammation of the large intestine |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 99 | Abnormal leukocyte count |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 100 | Abnormal lymphocyte count |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 101 | Abnormal B cell count |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 102 | Abnormal neutrophil count |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 103 | Abnormal platelet count |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 104 | Invasive pulmonary aspergillosis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 105 | cirrhosis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 106 | negative ab-response to protein vaccine |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 107 | T-cell large granular lymphocyte leukemia |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 108 | Reduced proportion of CD4 T cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 109 | obstructive lung disease |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 110 | Hypertension |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 111 | Reduced proportion of naive T cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 112 | Eczema |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 113 | Vascular skin abnormality |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 114 | Abdominal symptom |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 115 | Frequent skin infections |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 116 | Increased proportion of CD8 memory T cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 117 | Abnormal proportion of CD4 T cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 118 | Abnormal proportion of CD8 T cells |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 119 | Entrapment neuropathy |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 120 | Squamous cell carcinoma |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 121 | Gastritis |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 122 | Papilloma |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 123 | Invasive fungal infection |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 124 | Abnormal urine protein level |
1 (9.1%) | 0 (0.0%) | 10 (90.9%) |
| 125 | Antineutrophil antibodies |
0 (0.0%) | 2 (18.2%) | 9 (81.8%) |
| 126 | Antinuclear antibodies |
0 (0.0%) | 1 (9.1%) | 10 (90.9%) |
| 127 | Rheumatoid factor positive |
0 (0.0%) | 1 (9.1%) | 10 (90.9%) |
| 128 | Autoimmunity |
0 (0.0%) | 1 (9.1%) | 10 (90.9%) |
| 129 | Immune dysregulation |
0 (0.0%) | 1 (9.1%) | 10 (90.9%) |
| 130 | Autoimmune antibody positivity |
0 (0.0%) | 2 (18.2%) | 9 (81.8%) |
| 131 | Abnormality of immune system physiology |
0 (0.0%) | 1 (9.1%) | 10 (90.9%) |
| 132 | Abnormal gastrointestinal tract morphology |
0 (0.0%) | 1 (9.1%) | 10 (90.9%) |
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 |
|---|---|
| Antifungal agents | Moderate (1) for Invasive pulmonary aspergillosis |
| Voriconazole [Antifungal agents] |
Moderate (1) for Invasive pulmonary aspergillosis |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
18 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
| 101116 |
M | 210282 |
32 | Germany | German | PMID:12577056 [Fam.A:II.2(P2)]; PMID:16384931 [Fam.A:II.3(P2)]; PMID:19426217 [Fam.A:II.2(P2)]; PMID:28861081 [Fam.1:II.2(P2)]; PMID:35486341 [P005] | ||
| 101125 |
M | 210429 | 46 | German | PMID:34975878 [Fam.F076:P076]; PMID:35486341 [P060] | |||
| 101183 |
F | 210282 |
Germany | German | PMID:12577056 [Fam.A:II.1(P1)]; PMID:16384931 [Fam.A:II.2(P1)]; PMID:19426217 [Fam.A:II.1(P1)]; PMID:28861081 [Fam.1:II.1(P1)] | |||
| 101213 |
M | 210014 |
Germany | German | PMID:12577056 [Fam.B:II.1(P3)]; PMID:16384931 [Fam.B:II.2(P3)]; PMID:19426217 [Fam.B:II.2(P3)]; PMID:28861081 [Fam.2:II.1(P3)] | |||
| 101214 |
M | 210014 |
Germany | German | PMID:12577056 [Fam.B:II.2(P4)]; PMID:16384931 [Fam.B:II.3(P4)]; PMID:19426217 [Fam.B:II.3(P4)]; PMID:28861081 [Fam.2:II.2(P4)] | |||
| 101224 |
F | 210016 | Austria | Austrian | PMID:15507387 [Fam.D:II.1(II.1)]; PMID:16384931 [Fam.D:II.1(P7)]; PMID:19426217 [Fam.D:II.1(P7)]; PMID:28861081 [Fam.4:II.1(P7)] | |||
| 101226 |
F | 210016 | Austria | Austrian | PMID:15507387 [Fam.D:II.3(II.3)]; PMID:16384931 [Fam.D:II.3(P8)]; PMID:19426217 [Fam.D:II.3(P8)]; PMID:28861081 [Fam.4:II.3(P8)] | |||
| 101227 |
M | 210016 | Austria | Austrian | PMID:15507387 [Fam.D:II.4(II.4)]; PMID:16384931 [Fam.D:II.4(P9)]; PMID:19426217 [Fam.D:II.4(P9)]; PMID:28861081 [Fam.4:II.4(P9)] | |||
| 101229 |
F | 210017 |
Japanese | PMID:19380800 [P1(II.3)]; PMID:28861081 [Fam.5:II.2(P10)] | ||||
| 101230 |
M | 210017 |
Japanese | PMID:19380800 [Fam.P1:II.4(P2)]; PMID:28861081 [Fam.5:II.3(P11)] | ||||
| 101238 |
F | 210019 | U.S.A. | Pakistani | PMID:26399252 [P1(II.2)]; PMID:28861081 [Fam.7:II.2(P14)] | |||
| 101239 |
M | 210019 | U.S.A. | Pakistani | PMID:26399252 [Fam.P1:II.3(P2)]; PMID:28861081 [Fam.7:II.3(P15)] | |||
| 101246 |
M | 210018 | Kuwaiti | PMID:25678089 [P1(II.3 . )]; PMID:28861081 [Fam.6:II.1(P12)] | ||||
| 101247 |
F | 210018 | Kuwaiti | PMID:25678089 [Fam.P1:II.4]; PMID:28861081 [Fam.6:II.2] | ||||
| 101249 |
F | 210018 | Kuwaiti | PMID:25678089 [Fam.P1:II.6 . (P2)]; PMID:28861081 [Fam.6:II.4(P13)] | ||||
| 101382 |
M | 210641 | Germany | German | PMID:15507387 [Fam.C:II.3(II.3)]; PMID:16384931 [Fam.C:II.3(P5)]; PMID:19426217 [Fam.C:II.3(P5)]; PMID:28861081 [Fam.3:II.3(P5)] | |||
| 101959 |
M | 210641 | Germany | German | PMID:15507387 [Fam.C:II.4(II.4)]; PMID:16384931 [Fam.C:II.4(P6)]; PMID:19426217 [Fam.C:II.4(P6)]; PMID:28861081 [Fam.3:II.4(P6)] | |||
| 106819 |
M | 216163 |
54 | 48 | Definitive | China | Chinese (China) | PMID:36571238 [Fam.2:II.2(II:2[P3])] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).