Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency

Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency

Proteins expressed by recombination activating genes 1 and 2 (RAG1/2) are essential in the process of V(D)J recombination that leads to generation of the T and B cell repertoires. Clinical and immunological phenotypes of patients with RAG deficiencies correlate well to the degree of impaired RAG act...

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Bibliographic Details
Main Authors: Mayra B. Dorna, Pamela F. A. Barbosa, Andréia Rangel-Santos, Krisztian Csomos, Boglarka Ujhazi, Joseph F. Dasso, Daniel Thwaites, Joan Boyes, Sinisa Savic, Jolan E. Walter
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-04-01
Series:Frontiers in Pediatrics
Subjects:
RAG deficiency
RAG2
combined immunodeficiency
primary immunodeficiency
hypomorphic variant
compound heterozygous variant
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00122/full

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https://www.frontiersin.org/article/10.3389/fped.2019.00122/full

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