Article
A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis.
Journal of clinical immunology - 1 Jan 2020
Greenberg-Kushnir Noa, Lee Yu Nee, Simon Amos J, Lev Atar, Marcus Nufar, Abuzaitoun Omar, Somech Raz, Stauber Tali
Abstract excerpt
INTRODUCTION: Severe combined immunodeficiency (SCID) is a fatal disorder resulting from various genetic defects. In the Middle East, where consanguineous marriage is prevalent, autosomal recessive mutations in recombination-activating genes (RAG) are a leading cause of SCID. We present a large cohort of SCID patients due to RAG1 or RAG2 mutations. METHODS: Twenty-six patients with RAG1 or RAG2 deficiency,...
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