| Metadata | |
|---|---|
| ID | DOID:0061061 |
| Name | immunodeficiency 91 |
| Definition | A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13. https://pubmed.ncbi.nlm.nih.gov/33876776/ |
| Xrefs | |
| Synonyms |
immunodeficiency 91 and hyperinflammation [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |