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Allergy, Asthma & Clinical Immunology

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Open Access 01-12-2019 | Immunodeficiency | Case report

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

Authors: Che Kang Lim, Hassan Abolhassani, Sofia K. Appelberg, Mikael Sundin, Lennart Hammarström

Published in: Allergy, Asthma & Clinical Immunology | Issue 1/2019

Abstract

Background

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.

Case presentation

We report a 16-year-old patient with a T^low 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.

Conclusion

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.

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Title: IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature
Authors: Che Kang Lim
Hassan Abolhassani
Sofia K. Appelberg
Mikael Sundin
Lennart Hammarström
Publication date: 01-12-2019
Publisher: BioMed Central
Keyword: Immunodeficiency
Published in: Allergy, Asthma & Clinical Immunology / Issue 1/2019
Electronic ISSN: 1710-1492
DOI: https://doi.org/10.1186/s13223-018-0317-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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