Article
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
The Journal of allergy and clinical immunology - 1 Apr 2014
Lee Yu Nee, Frugoni Francesco, Dobbs Kerry, Walter Jolan E, Giliani Silvia, Gennery Andrew R, Al-Herz Waleed, Haddad Elie, LeDeist Francoise, Bleesing Jack H, Henderson Lauren A, Pai Sung-Yun, Nelson Robert P, El-Ghoneimy Dalia H, El-Feky Reem A, Reda Shereen M, Hossny Elham, Soler-Palacin Pere, Fuleihan Ramsay L, Patel Niraj C, Massaad Michel J, Geha Raif S, Puck Jennifer M, Palma Paolo, Cancrini Caterina, Chen Karin, Vihinen Mauno, Alt Frederick W, Notarangelo Luigi D
Abstract excerpt
BACKGROUND: The recombination-activating gene (RAG) 1/2 proteins play a critical role in the development of T and B cells by initiating the VDJ recombination process that leads to generation of a broad T-cell receptor (TCR) and B-cell receptor repertoire. Pathogenic mutations in the RAG1/2 genes result in various forms of primary immunodeficiency, ranging from T(-)B(-) severe combined immune deficiency to...
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