| Metadata | |
|---|---|
| ID | DOID:0111944 |
| Name | immunodeficiency 31B |
| 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. https://pubmed.ncbi.nlm.nih.gov/19084105/, https://pubmed.ncbi.nlm.nih.gov/12590259/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive immunodeficiency 31B, mycobacterial and viral infections [EXACT] autosomal recessive STAT1 deficiency [EXACT] IMD31B [EXACT] predisposition to severe viral infection due to STAT1 deficiency [EXACT] susceptibility to viral and mycobacterial infections due to STAT1 deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |