Visualize Submit Comment

Metadata
ID	DOID:0061052
Name	immunodeficiency 81
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/
Xrefs	MIM:619374
Parent Relationships	is_a primary immunodeficiency disease is_a autosomal recessive disease
Subclass Logical Relationships	existence starts during some Infantile onset has material basis in some autosomal recessive inheritance