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

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 pat...

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Bibliographic Details
Main Authors: Che Kang Lim, Hassan Abolhassani, Sofia K. Appelberg, Mikael Sundin, Lennart Hammarström
Format: Article
Language:English
Published: BMC 2019-01-01
Series:Allergy, Asthma & Clinical Immunology
Subjects:
Interleukin 2 receptor gamma
Atypical severe combined immunodeficiency
Hypomorphic mutations
Online Access:http://link.springer.com/article/10.1186/s13223-018-0317-y

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