IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
Che Kang LimLennart Hammarström

Abstract

Atypical X-linked severe combined immunodeficiency (X-SCID) is a variant of cellular immunodeficiency due to hypomorphic mutations in the interleukin 2 receptor gamma (IL2RG) gene. Due to a leaky clinical phenotype, diagnosis and appropriate treatment are challenging in these patients. We report a 16-year-old patient with a Tlow B+ NK+ cellular immunodeficiency due to a novel nonsense mutation in exon 8 (p.R328X) of the IL2RG gene. Functional impairment of the IL2RG was confirmed by IL2-Janus kinase 3-signal transducer and activator of transcription signaling pathway investigation. In addition, the characteristics of the mutations previously described in 39 patients with an atypical phenotype were reviewed and analyzed from the literature. This is the first report of an atypical X-SCID phenotype due to an exon 8 mutation in the IL2RG gene. The variability in the phenotypic spectrum of classic X-SCID associated gene highlights the necessity of multi-disciplinary cooperation vigilance for a more accurate diagnostic workup.

References

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Citations

Apr 9, 2020·Frontiers in Immunology·Christin DealManish J Butte
Mar 14, 2021·Journal of Clinical Immunology·Maleewan KitcharoensakkulJeffrey J Bednarski
Mar 16, 2021·Human Immunology·Kristy Lee, Roshini S Abraham
Mar 18, 2020·Genes & Diseases·Rajni KumrahAmit Rawat
Sep 4, 2021·Current Opinion in Immunology·Elena Wy Hsieh, Joseph D Hernandez
Oct 16, 2021·Briefings in Functional Genomics·Megan HayIsis Ricaño-Ponce

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Methods Mentioned

BETA
protein folding
exome sequencing

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