immunodeficiency 31B

Term ID

DOID:0111944

Synonyms

• autosomal recessive immunodeficiency 31B, mycobacterial and viral infections
• autosomal recessive STAT1 deficiency
• IMD31B
• predisposition to severe viral infection due to STAT1 deficiency
• susceptibility to viral and mycobacterial infections due to STAT1 deficiency

Definition

A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. (2)

References

• OMIM:613796
• ORDO:391311

Ontology

Human Disease   ( DOID:0111944 )