Cernunnos defect in an Iranian patient with T− B+ NK + severe combined immunodeficiency: A case report and review of the literature
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1990
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… read more here.
Keywords: combined immunodeficiency; defect iranian; cernunnos defect; iranian patient ... See more keywords