U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Synonyms
IMMUNODEFICIENCY 54; Natural killer cell and glucocorticoid deficiency with DNA repair defect
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-54 is an autosomal recessive primary immunodeficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer (NK) cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer. Laboratory studies of patient cells showed a DNA repair defect (summary by Gineau et al., 2012). [from OMIM]

Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDC21, CDC54, IMD54, NKCD, NKGCD, P1-CDC21, hCdc21, MCM4
    Summary: minichromosome maintenance complex component 4

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.