Article
A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations.
Allergologia et immunopathologia - 1 Jan 2021
Melika Shafeghat, Hossein Esmaeilzadeh, Mona Sadeghalvad, Elham Rayzan, Samaneh Zoghi, Sepideh Shahkarami, Raul Jimenez Heredia, Ana Krolo, Kaan Boztug, Nima Rezaei
Abstract excerpt
INTRODUCTION AND OBJECTIVES: Severe combined immunodeficiency (SCID) is a subset of primary immunodeficiency diseases caused by a hereditary deficiency of the adaptive immune system. Mutation in recombination activating gene (RAG) is known as the underlying genetic cause of SCID. RAG protein plays a pivotal role in V(D)J recombination which is the main process to assemble lymphocyte antigen receptors during T-...
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