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.