A new IL-2RG gene mutation in an X-linked SCID identified through TREC/KREC screening: A case report

Severe combined immunodeficiency (scid) represents a rare group of primary immunodeficiency disorders (pids),with known or unknown genetic alterations. here,we report a new interleukin 2 receptor,gamma chain (il-2rg) mutation in an iranian scid newborn. the patient was a 6-day old boy with a family history of pid. the child was screened using a molecular-based analysis for the assessment of t cell receptor excision circles (trecs) and kappa-deleting recombination excision circles (krecs). moreover,a complete immunological evaluation and gene sequencing was performed. results showed undetectable trec but a high level of krec copy numbers. flow cytometric data indicated low numbers of t and nk cells,but elevated number of b cells. a novel substitution in il2rg: c.675 c>a,leading to p.225 ser>arg was found. based on the functional analysis,the mutation is predicted to be damaging. the patient was diagnosed as a t b+ nk x-linked scid. copyright© summer 2015,iran j allergy asthma immunol. all rights reserved.