IMMUNODEFICIENCY, COMMON VARIABLE, 1

General Information (adopted from Orphanet):

Synonyms, Signs: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT IMMUNODEFICIENCY, COMMON VARIABLE, INCLUDED
CVID, INCLUDED
CVID1
Number of Symptoms 28
OrphanetNr:
OMIM Id: 607594
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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:0002014) Diarrhea 225 / 7739
6
(HPO:0001744) Splenomegaly 337 / 7739
7
(HPO:0002240) Hepatomegaly 467 / 7739
8
(HPO:0005435) Impaired T cell function 9 / 7739
9
(HPO:0002720) IgA deficiency 33 / 7739
10
(HPO:0001904) Autoimmune neutropenia rare [HPO:skoehler] 5 / 7739
11
(HPO:0004315) IgG deficiency 38 / 7739
12
(HPO:0010976) B lymphocytopenia 8 / 7739
13
(HPO:0002850) IgM deficiency 18 / 7739
14
(HPO:0004313) Decreased antibody level in blood 47 / 7739
15
(HPO:0002110) Bronchiectasis 73 / 7739
16
(HPO:0006532) Recurrent pneumonia 48 / 7739
17
(HPO:0002716) Lymphadenopathy 129 / 7739
18
(HPO:0002721) Immunodeficiency 97 / 7739
19
(HPO:0002718) Recurrent bacterial infections 75 / 7739
20
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
(OMIM) Markedly reduced IgA levels 2 / 7739
22
(OMIM) Defective antibody production 6 / 7739
23
(OMIM) Variable degree of T cell dysfunction 2 / 7739
24
(OMIM) Normal number of T cells 8 / 7739
25
(OMIM) Enteritis, recurrent 3 / 7739
26
(OMIM) Herpes infections 1 / 7739
27
(OMIM) Markedly reduced IgG levels 2 / 7739
28
(OMIM) Normal or reduced numbers of B cells 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Common variable immunodeficiency (CVID) is a clinically and genetically heterogeneous group of disorders 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 ...
Clinical Description OMIM In a comprehensive review of common variable immunodeficiency, Hammarstrom and Smith (1999) stated that patients have a marked reduction in serum levels of both IgG and IgA, and in half of the patients, IgM is also reduced. Patients ...
Molecular genetics OMIM In ICOS-deficient individuals with CVID1, Grimbacher et al. (2003) identified a partial deletion of ICOS mRNA with fully absent protein. The 443-nucleotide deletion of mRNA was due to a deletion of 1,815 basepairs of the ICOS gene, comprising ...
Population genetics OMIM In a comprehensive review of common variable immunodeficiency, Hammarstrom and Smith (1999) estimated that the disorder affects approximately 1 in 10,000 to 100,000 individuals.