has material basis in existence starts during autosomal recessive disease immunodeficiency 81 DOID:0061052 MIM:619374 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. disease_ontology primary immunodeficiency disease autosomal recessive inheritance Infantile onset