U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Immunodeficiency 14b, autosomal recessive

Immunodeficiency 14b, autosomal recessive

Summary

Autosomal recessive primary immunodeficiency-14B (IMD14B) is characterized by onset of recurrent infections in early childhood. Most patients have respiratory infections, but some may develop inflammatory bowel disease or osteomyelitis. Laboratory studies tend to show hypogammaglobulinemia and decreased levels of B cells. Although NK cell and T cell numbers are normal, there may be evidence of impaired immune-mediated cytotoxicity and defective T-cell function (summary by et al., 2018 and et al., 2019). [from OMIM]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: APDS, IMD14, IMD14A, IMD14B, P110DELTA, PI3K, ROCHIS, p110D, PIK3CD
    Summary: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

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.