Information on CVID10
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 by
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.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Decreased IgA levels |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 2 | Decreased IgG levels |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 3 | (unusual) Respiratory tract infection |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 4 | Abnormal circulating IgA level |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 5 | Abnormal circulating IgG level |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 6 | Abnormal circulating IgM level |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 7 | Decreased IgM levels |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 8 | Hypogammaglobulinemia |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 9 | Increased inflammatory response |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 10 | Abnormal bronchus morphology |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 11 | Recurrent lower respiratory tract infections |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 12 | Bronchiectasis |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 13 | Lung disease |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 14 | Pneumonia |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 15 | obstructive lung disease |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 16 | Herpes Simplex Virus Infection |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 17 | Alopecia |
3 (50.0%) | 1 (16.7%) | 2 (33.3%) |
| 18 | Bronchitis |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 19 | Rosacea |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 20 | Severe viral infection |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 21 | Autoimmunity |
2 (33.3%) | 1 (16.7%) | 3 (50.0%) |
| 22 | Varicella zoster virus infection |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 23 | Alopecia areata |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 24 | (unusual) Viral infection |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 25 | Erythema |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 26 | Dermatitis |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 27 | Abnormal paranasal sinus morphology |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 28 | Sinusitis |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 29 | Reduced ab-response to tetanus vaccine |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 30 | negative ab-response to diphtheria vaccine |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 31 | Hypothyroidism |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 32 | Unusual infection by anatomical site |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 33 | Recurrent upper respiratory tract infections |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 34 | Abnormality of vitamin D metabolism |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 35 | Osteoporosis |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 36 | Bronchopneumonia |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 37 | Psoriasiform dermatitis |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 38 | Abnormal joint morphology |
1 (16.7%) | 1 (16.7%) | 4 (66.7%) |
| 39 | Antinuclear antibodies |
1 (16.7%) | 1 (16.7%) | 4 (66.7%) |
| 40 | Recurrent respiratory infections |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 41 | Abnormal respiratory system physiology |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 42 | Abnormality of thyroid physiology |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 43 | Skeletal system abnormality |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 44 | Respiratory system abnormality |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 45 | Meningitis |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 46 | Autoimmune cytopenia |
1 (16.7%) | 1 (16.7%) | 4 (66.7%) |
| 47 | Abnormal immunoglobulin level |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 48 | (unusual) Urinary tract infection |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 49 | Reduced bone mineral density |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 50 | Atopy |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 51 | Thyroid gland abnormality |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 52 | Alopecia universalis |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 53 | Upper respiratory tract abnormality |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 54 | Herpes labialis, recurrent |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 55 | (unusual) Cytomegalovirus infection |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 56 | Arthritis |
1 (16.7%) | 1 (16.7%) | 4 (66.7%) |
| 57 | Vitamin D deficiency |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 58 | Immune dysregulation |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 59 | negative ab-response to protein vaccine |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 60 | Autoimmune antibody positivity |
1 (16.7%) | 1 (16.7%) | 4 (66.7%) |
| 61 | Abnormality of immune system physiology |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 62 | Abnormal hair quantity |
1 (16.7%) | 1 (16.7%) | 4 (66.7%) |
| 63 | Abnormal respiratory system morphology |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 64 | Asthma |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 65 | Cytomegalovirus Infection Reactivation |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 66 | Abnormal spleen morphology |
0 (0.0%) | 1 (16.7%) | 5 (83.3%) |
| 67 | Abnormal cell proliferation |
0 (0.0%) | 1 (16.7%) | 5 (83.3%) |
| 68 | Abnormal lymphocyte physiology |
0 (0.0%) | 1 (16.7%) | 5 (83.3%) |
| 69 | Abnormal liver morphology |
0 (0.0%) | 1 (16.7%) | 5 (83.3%) |
| 70 | Hepatopathy |
0 (0.0%) | 1 (16.7%) | 5 (83.3%) |
| 71 | APCA antibodies |
0 (0.0%) | 1 (16.7%) | 5 (83.3%) |
| 72 | Antiphospholipid antibody positive |
0 (0.0%) | 1 (16.7%) | 5 (83.3%) |
| 73 | Rheumatoid factor positive |
0 (0.0%) | 1 (16.7%) | 5 (83.3%) |
| 74 | Neoplasm |
0 (0.0%) | 1 (16.7%) | 5 (83.3%) |
| 75 | Splenomegaly |
0 (0.0%) | 1 (16.7%) | 5 (83.3%) |
| 76 | Abnormal lymphoproliferation |
0 (0.0%) | 2 (33.3%) | 4 (66.7%) |
| 77 | Phenotypic abnormality |
0 (0.0%) | 1 (16.7%) | 5 (83.3%) |
| 78 | Nervous system abnormality |
0 (0.0%) | 1 (16.7%) | 5 (83.3%) |
| 79 | Visceromegaly |
0 (0.0%) | 1 (16.7%) | 5 (83.3%) |
| 80 | Hepatomegaly |
0 (0.0%) | 1 (16.7%) | 5 (83.3%) |
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 |
|---|
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 |
|---|---|---|---|---|---|---|---|---|
| 101201 |
F | 211487 | 52 | Germany | PMID:34975878 [Fam.F123:II.3(P123)]; PMID:30941118 [Fam.1404:II.3(Pt#22)] | |||
| 101202 |
F | 211487 | 24 | Germany | PMID:34975878 [Fam.F123:III.1(P124)]; PMID:30941118 [Fam.1404:III.1(Pt#23)] | |||
| 101433 |
M | 210233 | 29 | 3 | Germany | German | PMID:34975878 [Fam.F143:P143] | |
| 101633 |
M | 210945 | 9 | Germany | PMID:34975878 [Fam.F220:P220]; PMID:30941118 [Fam.846:II.1(Pt#49)] | |||
| 101769 |
M | 210790 |
15 | PMID:30941118 [Fam.689:II.2(Pt#21)] | ||||
| 101770 |
M | 210790 |
58 | PMID:30941118 [Fam.689:I.1(Pt#19)] | ||||
| 101771 |
F | 210790 |
20 | PMID:30941118 [Fam.689:II.1(Pt#20)] | ||||
| 101795 |
M | 211075 | 17 | 2 | PMID:30941118 [Fam.981:II.5(Pt#28)] | |||
| 101856 |
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).