Information on CVID1
Basic details
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 17:24:22 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.
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).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Hypogammaglobulinemia |
11 (61.1%) | 0 (0.0%) | 7 (38.9%) |
| 2 | (unusual) Respiratory tract infection |
9 (50.0%) | 0 (0.0%) | 9 (50.0%) |
| 3 | Lung disease |
7 (38.9%) | 0 (0.0%) | 11 (61.1%) |
| 4 | Pneumonia |
7 (38.9%) | 0 (0.0%) | 11 (61.1%) |
| 5 | Splenomegaly |
5 (27.8%) | 0 (0.0%) | 13 (72.2%) |
| 6 | Abnormal lymphoproliferation |
5 (27.8%) | 0 (0.0%) | 13 (72.2%) |
| 7 | Decreased IgA levels |
4 (22.2%) | 0 (0.0%) | 14 (77.8%) |
| 8 | Decreased IgG levels |
4 (22.2%) | 0 (0.0%) | 14 (77.8%) |
| 9 | Recurrent upper respiratory tract infection |
3 (16.7%) | 0 (0.0%) | 15 (83.3%) |
| 10 | Hepatopathy |
3 (16.7%) | 0 (0.0%) | 15 (83.3%) |
| 11 | (Unusual) bacterial infection |
3 (16.7%) | 0 (0.0%) | 15 (83.3%) |
| 12 | (unusual) Viral infection |
3 (16.7%) | 1 (5.6%) | 14 (77.8%) |
| 13 | Reduced NK cell number |
2 (11.1%) | 0 (0.0%) | 16 (88.9%) |
| 14 | Decreased IgM levels |
2 (11.1%) | 0 (0.0%) | 16 (88.9%) |
| 15 | Herpes Simplex Virus Infection |
2 (11.1%) | 0 (0.0%) | 16 (88.9%) |
| 16 | Intestinal lymphoid nodular hyperplasia |
2 (11.1%) | 0 (0.0%) | 16 (88.9%) |
| 17 | Salmonella infection |
2 (11.1%) | 0 (0.0%) | 16 (88.9%) |
| 18 | Decreased proportion of switched memory B cells |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 19 | Abscess |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 20 | Sinusitis |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 21 | Reduced ab-response to tetanus vaccine |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 22 | negative ab-response to diphtheria vaccine |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 23 | Opportunistic infection |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 24 | Colitis |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 25 | Atopic dermatitis |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 26 | Hepatic steatosis |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 27 | Thrombocytopenia |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 28 | Lymphadenopathy |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 29 | Autoimmune neutropenia |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 30 | Lymphopenia |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 31 | Common variable immunodeficiency |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 32 | Psoriasiform dermatitis |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 33 | Reduced number of B cells |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 34 | Increased proportion of naive B cells |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 35 | Autoimmunity |
1 (5.6%) | 3 (16.7%) | 14 (77.8%) |
| 36 | Increased proportion of CD8 T cells |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 37 | Lymphocytosis |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 38 | Bronchiectasis |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 39 | Warts |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 40 | Neutropenia |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 41 | Autoimmune cytopenia |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 42 | Enteropathy |
1 (5.6%) | 1 (5.6%) | 16 (88.9%) |
| 43 | Impetigo |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 44 | Squamous cell carcinoma of the vulva |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 45 | (unusual) Giardiasis |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 46 | Campylobacter infection |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 47 | Herpes keratitis |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 48 | Meningoencephalitis |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 49 | Reduced proportion of naive CD4 T cells |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 50 | Atopy |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 51 | Increased proportion of effector mem. CD8 T cells |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 52 | Reduced proportion of effector mem. CD8 T cells |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 53 | Urticaria |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 54 | Hepatomegaly |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 55 | Diarrhea |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 56 | Leukopenia |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 57 | proteinuria |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 58 | Constrictive median neuropathy |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 59 | Bronchitis |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 60 | Invasive pulmonary aspergillosis |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 61 | cirrhosis |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 62 | T-cell large granular lymphocyte leukemia |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 63 | Reduced proportion of CD4 T cells |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 64 | Hypertension |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 65 | Eczema |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 66 | Gastritis |
1 (5.6%) | 0 (0.0%) | 17 (94.4%) |
| 67 | Antineutrophil antibodies |
0 (0.0%) | 2 (11.1%) | 16 (88.9%) |
| 68 | Antinuclear antibodies |
0 (0.0%) | 1 (5.6%) | 17 (94.4%) |
| 69 | Rheumatoid factor positive |
0 (0.0%) | 1 (5.6%) | 17 (94.4%) |
| 70 | Autoimmune antibody positivity |
0 (0.0%) | 2 (11.1%) | 16 (88.9%) |
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 | Moderate (1) for Invasive pulmonary aspergillosis |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.