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

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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… Click to show full abstract

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 features of reported patients in the literature.

Keywords: combined immunodeficiency; defect iranian; cernunnos defect; iranian patient; severe combined

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022

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