U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Immunodeficiency, common variable, 10

Immunodeficiency, common variable, 10

Synonyms
DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY; IMMUNODEFICIENCY, COMMON VARIABLE, WITH CENTRAL ADRENAL INSUFFICIENCY

Summary

Common variable immunodeficiency-10 (CVID10) 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). [from OMIM]

Available tests

18 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CVID10, H2TF1, LYT-10, LYT10, NF-kB2, p100, p49/p100, p52, NFKB2
    Summary: nuclear factor kappa B subunit 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.