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GTR Home > Conditions/Phenotypes > Immunodeficiency 31B

Immunodeficiency 31B

Synonyms
IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE; Mycobacterial and viral infections, susceptibility to, autosomal recessive; STAT1 DEFICIENCY, AUTOSOMAL RECESSIVE
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-31B (IMD31B) results from autosomal recessive (AR) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA (147660)/IFNB (147640) (type I interferon) and IFNG (147570) (type III interferon). AR STAT1 deficiency affects both the IFNA/IFNB and the IFNG pathways, resulting in susceptibility to mycobacteria, Salmonella, and viruses, with a severe disease course and often fatal outcome (review by Al-Muhsen and Casanova, 2008). [from OMIM]

Available tests

25 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (25 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

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Imported from Human Phenotype Ontology (HPO)

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