Immunodeficiency, common variable, 1

Preferred Label : Immunodeficiency, common variable, 1;

Symbol : CVID1;

CISMeF acronym : CVID; CVID1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Antibody deficiency due to icos defect;

Included titles and symbols : Immunodeficiency, common variable; CVID;

Description : 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 B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B cells are usually in the normal range, but can be low. Most individuals with CVID have onset of infections after age 10 years. CVID represents the most common form of primary immunodeficiency disorders and is the most common form of primary antibody deficiency. Approximately 10 to 20% of patients with a diagnosis of CVID have a family history of the disorder (reviews by Chapel et al., 2008, Conley et al., 2009, and Yong et al., 2009). - Genetic Heterogeneity of Common Variable Immunodeficiency Common variable immunodeficiency is a genetically heterogeneous disorder. See also CVID2 (240500), caused by mutation in the TACI gene (TNFRSF13B; 604907); CVID3 (613943), caused by mutation in the CD19 gene (107265); CVID4 (613494), caused by mutation in the BAFFR gene (TNFRSF13C; 606269); CVID5 (613495), caused by mutation in the CD20 gene (112210); CVID6 (613496), caused by mutation in the CD81 gene (186845);;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the inducible costimulator gene (ICOS, 605448.0001);

Laboratory abnormalities : Markedly reduced IgG levels; Markedly reduced IgA levels; Reduced IgM levels;

Prefixed ID : #607594;

Details

Origin ID

607594;

UMLS CUI

C3149378;

Automatic exact mappings (from CISMeF team)
- Common variable immunodeficiency due to an intrinsic T cell defect [ORDO Disease]
- Common variable immunodeficiency without known genetic defect [ORDO Disease]
- TNFRSF13B wt Allele [NCIt concept]
Broader ORDO disease(s)
- Common variable immunodeficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Common Variable Immunodeficiency [NCIt concept]
- Common variable agammaglobulinemia (disorder) [SNOMED CT concept]
- Common variable immunodeficiency [PASCAL descriptor]
- Common variable immunodeficiency [MedDRA LLT]
- Common variable immunodeficiency [ICD-10 category (who)]
- Common variable immunodeficiency [ICD-10 category]
- Common variable immunodeficiency [ICD-11 More detail]
- Common variable immunodeficiency [ICD-9 code]
- Immunodeficiency common variable [MedDRA Preferred Term]
- common variable immunodeficiency [Disease (Nov.)]
- common variable immunodeficiency [MeSH concept]
- common variable immunodeficiency [DO Concept]
- common variable immunodeficiency [MeSH Descriptor]
DO Cross reference
- common variable immunodeficiency [DO Concept]
Genes related to phenotype
- Inducible t-cell costimulator [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Bronchiectasis [HPO term]
- Childhood onset [HPO term]
- Conjunctivitis [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Decreased proportion of class-switched memory B cells [HPO term]
- Diarrhea [HPO term]
- Hepatomegaly [HPO term]
- Immunodeficiency [HPO term]
- Impaired T cell function [HPO term]
- Lymphadenopathy [HPO term]
- Markedly reduced IgG levels [HPO term]
- Neutropenia in presence of anti-neutropil antibodies [HPO term]
- Pneumonia [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent bronchitis [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent sinusitis [HPO term]
- Splenomegaly [HPO term]
- Variable degree of T cell dysfunction [HPO term]
- Young adult onset [HPO term]
Not associated HPO term(s)
- Abnormal T cell count [HPO term]
ORDO concept(s)
- Common variable immunodeficiency [ORDO Disease]
- Common variable immunodeficiency due to an intrinsic T cell defect [ORDO Disease]
- Common variable immunodeficiency without known genetic defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Common variable immunodeficiency [ORDO Disease]

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