U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Synonyms
IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT; Immunodeficiency 31a; STAT1 DEFICIENCY, AUTOSOMAL DOMINANT
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Immunodeficiency-31A (IMD31A) results from autosomal dominant (AD) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA (147660)/IFNB (147640) (type I interferon) and IFNG (147570) (type III interferon). AD STAT1 deficiency selectively affects the IFNG pathway, but not the IFNA/IFNB pathway, and confers a predisposition to mycobacterial infections. Pathogens reported in IMD31A patients include bacillus Calmette-Guerin (BCG) and Mycobacterium avium complex, as well as Mycobacterium tuberculosis. IMD31A has low penetrance and a mild clinical phenotype with good prognosis for recovery (review by Al-Muhsen and Casanova, 2008). Two patients with heterozygous STAT1 mutations have been reported with increased susceptibility to adult-onset herpes simplex encephalitis (HSE) without a history of other significant infections (Mork et al., 2015). [from OMIM]

Available tests

33 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (33 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CANDF7, IMD31A, IMD31B, IMD31C, ISGF-3, STAT91, STAT1
    Summary: signal transducer and activator of transcription 1

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.