IMMUNODEFICIENCY, COMMON VARIABLE, 2

General Information (adopted from Orphanet):

Synonyms, Signs: ANTIBODY DEFICIENCY DUE TO TACI DEFECT
HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY
CVID2
Number of Symptoms 32
OrphanetNr:
OMIM Id: 240500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011108) Recurrent sinusitis 30 / 7739
2
(HPO:0002837) Recurrent bronchitis 21 / 7739
3
(HPO:0000509) Conjunctivitis 47 / 7739
4
(HPO:0000403) Recurrent otitis media 61 / 7739
5
(HPO:0001287) Meningitis 46 / 7739
6
(HPO:0001744) Splenomegaly 337 / 7739
7
(HPO:0002240) Hepatomegaly 467 / 7739
8
(HPO:0002014) Diarrhea 225 / 7739
9
(HPO:0004313) Decreased antibody level in blood 47 / 7739
10
(HPO:0002665) Lymphoma 60 / 7739
11
(HPO:0002850) IgM deficiency 18 / 7739
12
(HPO:0004315) IgG deficiency 38 / 7739
13
(HPO:0002720) IgA deficiency 33 / 7739
14
(HPO:0005435) Impaired T cell function 9 / 7739
15
(HPO:0002110) Bronchiectasis 73 / 7739
16
(HPO:0006532) Recurrent pneumonia 48 / 7739
17
(HPO:0002664) Neoplasm 111 / 7739
18
(HPO:0002718) Recurrent bacterial infections 75 / 7739
19
(HPO:0002721) Immunodeficiency 97 / 7739
20
(HPO:0002716) Lymphadenopathy 129 / 7739
21
(HPO:0002960) Autoimmunity 78 / 7739
22
(OMIM) Markedly reduced IgA levels 2 / 7739
23
(OMIM) Normal number of T cells 8 / 7739
24
(OMIM) Lymph nodes show reactive follicular hyperplasia and non-caseating granulomas 1 / 7739
25
(OMIM) Variable degree of T cell dysfunction 2 / 7739
26
(OMIM) Defective antibody production 6 / 7739
27
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
28
(OMIM) Normal or increased numbers of B cells 1 / 7739
29
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
30
(OMIM) Markedly reduced IgG levels 2 / 7739
31
(OMIM) Anti-IgA antibodies commonly present 1 / 7739
32
(OMIM) Enteritis, recurrent 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Salzer et al. (2005) reported 2 unrelated families with a diagnosis of common variable immunodeficiency. All affected individuals had hypogammaglobulinemia with low serum IgG, IgM, and IgA, and recurrent infections, including otitis media, respiratory tract infections, and gastrointestinal ...
Molecular genetics OMIM By studying cohorts of immunodeficient individuals from Europe (162 individuals with a diagnosis of CVID) and the US (19 individuals with CVID and 16 with IGAD), Salzer et al. (2005) and Castigli et al. (2005) found that mutations ...