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

• Main Authors: Mayra B. Dorna (Author), Pamela F. A. Barbosa (Author), Andréia Rangel-Santos (Author), Krisztian Csomos (Author), Boglarka Ujhazi (Author), Joseph F. Dasso (Author), Daniel Thwaites (Author), Joan Boyes (Author), Sinisa Savic (Author), Jolan E. Walter (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...