immunodeficiency 31A

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.

Signs and symptoms

• BCGitis
• Recurrent mycobacterium avium complex infections
• Recurrent viral infections
• HSV encephalitis
• Immunodeficiency

Also known as: IMD31A; MSMD due to partial STAT1 deficiency; MSMD due to partial signal transducer and activator of transcription 1 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency