Information on CVID13

Basic details

Name: Immunodeficiency, common variable, 13 | Acronym: CVID13
Alt. names: IKAROS deficiency | IKAROS haploinsufficiency

Gene: IKZF1 | MOI: Autosomal dominant | Mechanism of action: Haploinsufficiency

No. of cases in DB: 7 | First reported in: 2012

Last updated on: 2023-02-28 16:41:18 by

OMIM: 616873

Orphanet: -

MONDO: -

DOID: -

ClinGen:

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

Prophylaxis and early and aggressive treatment of infections may be beneficial; Acute lymphoblastic leukemia has been described, and awareness may allow early detection and management.

Please mind that full curation of this condition has not been completed yet. It is currently ongoing.

7 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code
101101arrow icon M 211414 15 United Kingdom PMID:31057532 [Fam.G:II.1]
101133arrow icon M 210896 45 Germany PMID:34975878 [Fam.F082:P082]
101453arrow icon F 210192 55 Germany German PMID:34975878 [Fam.F150:P150]; PMID:31057532 [Fam.A:I.2]
101454arrow icon M 210192 Germany PMID:31057532 [Fam.A:II.1]
101456arrow icon M 210192 Germany PMID:31057532 [Fam.A:II.2]
101554arrow icon M 210192 Germany PMID:31057532 [Fam.A:II.3]
102183arrow icon F 211414 United Kingdom PMID:31057532 [Fam.G:I.2]

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 Decreased IgG levelsarrow icon 4 (57.1%) 0 (0.0%) 3 (42.9%)
2 Hypogammaglobulinemiaarrow icon 4 (57.1%) 0 (0.0%) 3 (42.9%)
3 Decreased IgA levelsarrow icon 3 (42.9%) 1 (14.3%) 3 (42.9%)
4 Decreased IgM levelsarrow icon 3 (42.9%) 1 (14.3%) 3 (42.9%)
5 Autoimmunityarrow icon 3 (42.9%) 0 (0.0%) 4 (57.1%)
6 Splenomegalyarrow icon 3 (42.9%) 0 (0.0%) 4 (57.1%)
7 Abnormal lymphoproliferationarrow icon 3 (42.9%) 0 (0.0%) 4 (57.1%)
8 (unusual) Respiratory tract infectionarrow icon 2 (28.6%) 0 (0.0%) 5 (71.4%)
9 Autoimmune thrombocytopeniaarrow icon 2 (28.6%) 0 (0.0%) 5 (71.4%)
10 Autoimmune cytopeniaarrow icon 2 (28.6%) 0 (0.0%) 5 (71.4%)
11 Varicella zoster virus infectionarrow icon 2 (28.6%) 0 (0.0%) 5 (71.4%)
12 (unusual) Viral infectionarrow icon 2 (28.6%) 0 (0.0%) 5 (71.4%)
13 Seizuresarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
14 Recurrent upper respiratory tract infectionarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
15 Lymphoid interstitial pneumoniaarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
16 Meningiomaarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
17 Lung diseasearrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
18 Enteropathyarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
19 (unusual) Epstein-Barr virus infectionarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
20 Pulmonary tuberculosisarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
21 Diarrheaarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
22 Leukopeniaarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
23 Non-Hodgkin lymphomaarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
24 Hemolytic anemiaarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
25 Pneumoniaarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
26 Measlesarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
27 B Acute Lymphoblastic Leukemiaarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
28 Gastritisarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)

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

Please mind that full curation of this condition has not been completed yet. It is currently ongoing.