Cernunnos defect in an Iranian patient with T− B+ NK+ severe combined immunodeficiency: A case report and review of the literature

Cernunnos defect in an Iranian patient with T− B+ NK+ severe combined immunodeficiency: A case report and review of the literature

Abstract Background Defective Cernunnos gene in nonhomologous end‐joining (NHEJ) pathway of the DNA repair is responsible for radiosensitive severe combined immunodeficiency (SCID). Herein, presented a new patient with Cernunnos deficiency and summarized the clinical, immunological, and molecular fe...

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Bibliographic Details
Main Authors: Mahnaz Jamee, Nasrin Khakbazan Fard, Shahrzad Fallah, Zahra Golchehre, Mazdak Fallahi, Bibi Shahin Shamsian, Samin Sharafian, Zahra Chavoshzadeh
Format: Article
Language:English
Published: Wiley 2022-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
BCG
Cernunnos deficiency
inborn errors of immunity
NHEJ1
SCID
severe combined immunodeficiency
Online Access:https://doi.org/10.1002/mgg3.1990

Internet

https://doi.org/10.1002/mgg3.1990

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