immunodeficiency 58 (DOID:0111984)
Alliance: disease page
Synonyms: IMD58; severe combined immunodeficiency due to CARMIL2 deficiency
Alt IDs: OMIM:618131, ORDO:542301, UMLS_CUI:C4748304
Definition: 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.