title: A New IL-2RG Gene Mutation in an X-linked SCID Identified through TREC/KREC Screening: a Case Report.
abstract: 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.
authors.affiliation: Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Nourizadeh
authors.affiliation: Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska University Hospital Huddinge, Stockholm, Sweden AND Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Municipal Hospital St. Georg, Leipzig, Germany.
authors.forename: Stephan
authors.initials: S
authors.lastname: Borte
authors.affiliation: Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Fazlollahi
authors.affiliation: Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska University Hospital Huddinge, Stockholm, Sweden.
authors.forename: Lennart
authors.initials: L
authors.lastname: Hammarström
authors.affiliation: Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Zahra
authors.initials: Z
authors.lastname: Pourpak
mesh_terms: D004270:DNA, Circular / Q000235:genetics; D006801:Humans; D007145:Immunoglobulin kappa-Chains / Q000235:genetics*; D007231:Infant, Newborn; D053631:Interleukin Receptor Common gamma Subunit / Q000235:genetics*; D008297:Male; D009154:Mutation; D011948:Receptors, Antigen, T-Cell / Q000235:genetics*; D053632:X-Linked Combined Immunodeficiency Diseases / Q000235:genetics*
chemical_list: D004270:DNA, Circular; C507941:IL2RG protein, human; D007145:Immunoglobulin kappa-Chains; D053631:Interleukin Receptor Common gamma Subunit; D011948:Receptors, Antigen, T-Cell
keywords: Interleukin-2 Receptor gamma Chain; Severe Combined Immune Deficiency; T-cell receptor excision circles; kappa-deleting recombination excision circles