A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency
نویسندگان
چکیده
منابع مشابه
Novel RAG1 mutation in a case of severe combined immunodeficiency.
OBJECTIVE The recombination activating enzymes RAG1 and RAG2 are essential to the process of V(D)J rearrangement in B and T cells and thus to the development of normal immune function. Mutations in RAG1 or RAG2 can lead to a spectrum of disorders, ranging from typical (B-)(T-) severe combined immunodeficiency to Omenn's syndrome. We present a unique presentation of RAG1 deficiency. PATIENT We...
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ژورنال
عنوان ژورنال: Journal of Allergy and Clinical Immunology
سال: 2019
ISSN: 0091-6749
DOI: 10.1016/j.jaci.2019.01.001