title: Mutation analysis should be performed to rule out gammac deficiency in children with functional severe combined immune deficiency despite apparently normal immunologic tests.
abstract: To study the correlation between genotype and phenotype in x-linked SCID, we have characterized the presentation of 2 unrelated patients. Both had infections suggestive of immunodeficiency, but their immune function and lymphoid tissues were normal. They were found to have an identical R222C mutation in the gammac gene.
authors.affiliation: Division of Immunology/Allergy and the Infection, Immunity, Injury and Repair Program, The Research Institute and The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Raz
authors.initials: R
authors.lastname: Somech
authors.forename: Chaim M
authors.initials: CM
authors.lastname: Roifman
mesh_terms: D016026:Bone Marrow Transplantation; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D007223:Infant; D053631:Interleukin Receptor Common gamma Subunit; D010641:Phenotype; D020395:Receptors, Interleukin-7 / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000276:immunology* / Q000601:surgery
chemical_list: C507941:IL2RG protein, human; D053631:Interleukin Receptor Common gamma Subunit; D020395:Receptors, Interleukin-7