Immunodeficiency, common variable, 10

Preferred Label : Immunodeficiency, common variable, 10;

Symbol : CVID10;

CISMeF acronym : CVID10; DAVID;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deficit in anterior pituitary function and variable immunodeficiency; Immunodeficiency, common variable, with central adrenal insufficiency; DAVID;

Description : Common variable immunodeficiency-10 is an autosomal dominant 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 (summary by Chen et al., 2013). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear factor kappa-beta, subunit 2 gene (NFKB2, 164012.0001);

Laboratory abnormalities : Low serum cortisol; Low serum ACTH; Hypoglycemia, intermittent;

Prefixed ID : #615577;

Details

Origin ID

615577;

UMLS CUI

C3809991;

Automatic exact mappings (from CISMeF team)
- Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) [SNOMED CT concept]
- NFKB2 wt Allele [NCIt concept]
DO Cross reference
- common variable immunodeficiency [DO Concept]
Genes related to phenotype
- Nuclear factor kappa-b, subunit 2 [OMIM gene]
HPO term(s)
- Abnormal response to ACTH stimulation test [HPO term]
- Alopecia totalis [HPO term]
- Anti-thyroglobulin antibody positivity [HPO term]
- Anti-thyroid peroxidase antibody positivity [HPO term]
- Asthma [HPO term]
- Autosomal dominant inheritance [HPO term]
- Central adrenal insufficiency [HPO term]
- Chiari type I malformation [HPO term]
- Childhood onset [HPO term]
- Combined immunodeficiency [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Frequent Giardia lamblia infestation [HPO term]
- Global developmental delay [HPO term]
- Hypoglycemia [HPO term]
- Onychomycosis [HPO term]
- Psoriasiform dermatitis [HPO term]
- Pyloric stenosis [HPO term]
- Recurrent oral herpes [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent sinusitis [HPO term]
- Recurrent viral upper respiratory tract infections [HPO term]
- Trachyonychia [HPO term]
ORDO concept(s)
- Common variable immunodeficiency [ORDO Disease]
- Deficiency in anterior pituitary function-variable immunodeficiency syndrome [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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