Term Name: immunodeficiency 81
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.
Ontology: Human Disease [DOID:0061052]   ( DOID:0061052 )

Relationships
is a type of: autosomal recessive disease primary immunodeficiency disease