has material basis in existence starts during autosomal recessive disease immunodeficiency 113 A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25. MIM:620565 disease_ontology DOID:0051056 primary immunodeficiency disease autosomal recessive inheritance Infantile onset