immunodeficiency 81

Term ID

DOID:0061052

Synonyms

Definition

A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33. https://pubmed.ncbi.nlm.nih.gov/33231617/

References

• MIM:619374

Ontology

Human Disease   ( DOID:0061052 )