Information on CVID10

Basic details

Name: Immunodeficiency, common variable, 10 | Acronym: CVID10
Alt. names: NFKB2 haploinsufficiency

Gene: NFKB2 | MOI: Autosomal dominant | Mechanism of action: Haploinsufficiency

No. of cases in DB: 9 | First reported in: 2013

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

OMIM: 615577

Orphanet: -

MONDO: 0014260

DOID: -

ClinGen: Definitive (2021-10-13)

Description

A primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B-cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency.

Management

Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Central adrenal insufficiency has been described, and medical management (with glucocorticoid and mineralocorticoid replacement) has been described as beneficial.

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

9 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code
101201arrow icon F 211487 52 Germany PMID:34975878 [Fam.F123:II.3(P123)]; PMID:30941118 [Fam.1404:II.3(Pt#22)]
101202arrow icon F 211487 24 Germany PMID:34975878 [Fam.F123:III.1(P124)]; PMID:30941118 [Fam.1404:III.1(Pt#23)]
101433arrow icon M 210233 29 3 Germany German PMID:34975878 [Fam.F143:P143]
101633arrow icon M 210945 9 Germany PMID:34975878 [Fam.F220:P220]; PMID:30941118 [Fam.846:II.1(Pt#49)]
101769arrow icon M 210790tree icon 15 PMID:30941118 [Fam.689:II.2(Pt#21)]
101770arrow icon M 210790tree icon 58 PMID:30941118 [Fam.689:I.1(Pt#19)]
101771arrow icon F 210790tree icon 20 PMID:30941118 [Fam.689:II.1(Pt#20)]
101795arrow icon M 211075 17 2 PMID:30941118 [Fam.981:II.5(Pt#28)]
101856arrow icon F 211487 23 0 Germany PMID:30941118 [Fam.1404:III.2(Pt#24)]

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 (unusual) Respiratory tract infectionarrow icon 6 (66.7%) 0 (0.0%) 3 (33.3%)
2 Lung diseasearrow icon 6 (66.7%) 0 (0.0%) 3 (33.3%)
3 Decreased IgA levelsarrow icon 5 (55.6%) 0 (0.0%) 4 (44.4%)
4 Decreased IgG levelsarrow icon 5 (55.6%) 0 (0.0%) 4 (44.4%)
5 Decreased IgM levelsarrow icon 5 (55.6%) 0 (0.0%) 4 (44.4%)
6 Hypogammaglobulinemiaarrow icon 5 (55.6%) 0 (0.0%) 4 (44.4%)
7 Bronchiectasisarrow icon 4 (44.4%) 0 (0.0%) 5 (55.6%)
8 Pneumoniaarrow icon 4 (44.4%) 0 (0.0%) 5 (55.6%)
9 Autoimmunityarrow icon 3 (33.3%) 1 (11.1%) 5 (55.6%)
10 (unusual) Viral infectionarrow icon 3 (33.3%) 0 (0.0%) 6 (66.7%)
11 Bronchitisarrow icon 3 (33.3%) 0 (0.0%) 6 (66.7%)
12 Rosaceaarrow icon 2 (22.2%) 0 (0.0%) 7 (77.8%)
13 Varicella zoster virus infectionarrow icon 2 (22.2%) 0 (0.0%) 7 (77.8%)
14 Alopecia areataarrow icon 2 (22.2%) 0 (0.0%) 7 (77.8%)
15 Sinusitisarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
16 Reduced ab-response to tetanus vaccinearrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
17 negative ab-response to diphtheria vaccinearrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
18 Hypothyroidismarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
19 Recurrent lower respiratory tract infectionsarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
20 Recurrent upper respiratory tract infectionarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
21 Osteoporosisarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
22 Bronchopneumoniaarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
23 Psoriasiform dermatitisarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
24 Antinuclear antibodiesarrow icon 1 (11.1%) 1 (11.1%) 7 (77.8%)
25 Endocrine system abnormalityarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
26 Meningitisarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
27 Autoimmune cytopeniaarrow icon 1 (11.1%) 1 (11.1%) 7 (77.8%)
28 Urinary tract infectionarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
29 Alopeciaarrow icon 1 (11.1%) 1 (11.1%) 7 (77.8%)
30 Atopyarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
31 Alopecia universalisarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
32 Upper respiratory tract abnormalityarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
33 Herpes labialis, recurrentarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
34 Arthritisarrow icon 1 (11.1%) 1 (11.1%) 7 (77.8%)
35 Vitamin D deficiencyarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
36 Autoimmune antibody positivityarrow icon 1 (11.1%) 1 (11.1%) 7 (77.8%)
37 Asthmaarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
38 Cytomegalovirus Infection Reactivationarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
39 Hepatopathyarrow icon 0 (0.0%) 1 (11.1%) 8 (88.9%)
40 APCA antibodiesarrow icon 0 (0.0%) 1 (11.1%) 8 (88.9%)
41 Antiphospholipid antibody positivearrow icon 0 (0.0%) 1 (11.1%) 8 (88.9%)
42 Rheumatoid factor positivearrow icon 0 (0.0%) 1 (11.1%) 8 (88.9%)
43 Neoplasmarrow icon 0 (0.0%) 1 (11.1%) 8 (88.9%)
44 Splenomegalyarrow icon 0 (0.0%) 1 (11.1%) 8 (88.9%)
45 Abnormal lymphoproliferationarrow icon 0 (0.0%) 2 (22.2%) 7 (77.8%)
46 Nervous system abnormalityarrow icon 0 (0.0%) 1 (11.1%) 8 (88.9%)
47 Hepatomegalyarrow icon 0 (0.0%) 1 (11.1%) 8 (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

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