Definition

A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2.

Synonyms

autosomal dominant immunodeficiency 31A, mycobacteriosis
IMD31A

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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immunodeficiency 31A

immunodeficiency 31A

Associated Genes

Associated Alleles

Associated Models