DO_rare_slim has material basis in autosomal recessive disease immunodeficiency 58 UMLS_CUI:C4748304 ORDO:542301 A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. UMLS_CUI:C5568557 MIM:618131 UMLS_CUI:C5568557 IMD58 disease_ontology DOID:0111984 SNOMEDCT_US_2025_09_01:1186712009 UMLS_CUI:C4748304 severe combined immunodeficiency due to CARMIL2 deficiency combined T cell and B cell immunodeficiency autosomal recessive inheritance