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

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. C...

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Detalles Bibliográficos
Autores principales: Lim, Che Kang, Abolhassani, Hassan, Appelberg, Sofia K., Sundin, Mikael, Hammarström, Lennart
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320602/
https://www.ncbi.nlm.nih.gov/pubmed/30622570
http://dx.doi.org/10.1186/s13223-018-0317-y

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