Il2rg Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature

Il2rg Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature Publisher

Lim CK^{1, 2} ; Abolhassani H^{1, 3} ; Appelberg SK¹ ; Sundin M^{4, 5} ; Hammarstrom L^{1, 6}

Show Affiliations

1. Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska, Huddinge 141 86, Stockholm, Sweden
2. Department of Clinical Translational Research, Singapore General Hospital, Singapore, Singapore
3. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
4. Department of Blood Disorders, Immunodeficiency and Stem Cell Transplantation, Astrid Lindgren Children's Hospital, Stockholm, Sweden
5. Division of Pediatrics, Department of Clinical Science, Karolinska Institutet, Stockholm, Sweden
6. BGI-Shenzhen, Shenzhen, 518083, China

Source: Allergy# Asthma and Clinical Immunology Published: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. © 2019 The Author(s).

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Style	Citing Format
MLA	Lim CK, et al.. "Il2rg Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature." Allergy# Asthma and Clinical Immunology, vol. 15, no. 1, 2019, pp. -.
APA	Lim CK, Abolhassani H, Appelberg SK, Sundin M, Hammarstrom L (2019). Il2rg Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature. Allergy# Asthma and Clinical Immunology, 15(1), -.
Chicago	Lim CK, Abolhassani H, Appelberg SK, Sundin M, Hammarstrom L. "Il2rg Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature." Allergy# Asthma and Clinical Immunology 15, no. 1 (2019): -.
Harvard	Lim CK et al. (2019) 'Il2rg Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature', Allergy# Asthma and Clinical Immunology, 15(1), pp. -.
Vancouver	Lim CK, Abolhassani H, Appelberg SK, Sundin M, Hammarstrom L. Il2rg Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature. Allergy# Asthma and Clinical Immunology. 2019;15(1):-.
BibTex	@article{ author = {Lim CK and Abolhassani H and Appelberg SK and Sundin M and Hammarstrom L}, title = {Il2rg Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature}, journal = {Allergy# Asthma and Clinical Immunology}, volume = {15}, number = {1}, pages = {-}, year = {2019} }
RIS	TY - JOUR AU - Lim CK AU - Abolhassani H AU - Appelberg SK AU - Sundin M AU - Hammarstrom L TI - Il2rg Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature JO - Allergy# Asthma and Clinical Immunology VL - 15 IS - 1 SP - EP - PY - 2019 ER -

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