has material basis in autosomal dominant disease immunodeficiency 133 A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21. DOID:0061096 disease_ontology MIM:621254 immunodeficiency 133 with autoimmunity and autoinflammation primary immunodeficiency disease autosomal dominant inheritance