Mutation analysis should be performed to rule out gammac deficiency in children with functional severe combined immune deficiency despite apparently normal immunologic tests

Raz Somech; Chaim M Roifman

doi:10.1016/j.jpeds.2005.05.010

Mutation analysis should be performed to rule out gammac deficiency in children with functional severe combined immune deficiency despite apparently normal immunologic tests

J Pediatr. 2005 Oct;147(4):555-7. doi: 10.1016/j.jpeds.2005.05.010.

Authors

Raz Somech¹, Chaim M Roifman

Affiliation

¹ 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.

PMID: 16227049
DOI: 10.1016/j.jpeds.2005.05.010

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.

Publication types

Case Reports

MeSH terms

Bone Marrow Transplantation
DNA Mutational Analysis
Genotype
Humans
Infant
Interleukin Receptor Common gamma Subunit
Phenotype
Receptors, Interleukin-7 / genetics*
Severe Combined Immunodeficiency / genetics*
Severe Combined Immunodeficiency / immunology*
Severe Combined Immunodeficiency / surgery

Substances

IL2RG protein, human
Interleukin Receptor Common gamma Subunit
Receptors, Interleukin-7