Article
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes.
The Journal of allergy and clinical immunology - 1 Apr 2014
IJspeert Hanna, Driessen Gertjan J, Moorhouse Michael J, Hartwig Nico G, Wolska-Kusnierz Beata, Kalwak Krzysztof, Pituch-Noworolska Anna, Kondratenko Irina, van Montfrans Joris M, Mejstrikova Ester, Lankester Arjan C, Langerak Anton W, van Gent Dik C, Stubbs Andrew P, van Dongen Jacques J M, van der Burg Mirjam
Abstract excerpt
BACKGROUND: V(D)J recombination takes place during lymphocyte development to generate a large repertoire of T- and B-cell receptors. Mutations in recombination-activating gene 1 (RAG1) and RAG2 result in loss or reduction of V(D)J recombination. It is known that different mutations in RAG genes vary in residual recombinase activity and give rise to a broad spectrum of clinical phenotypes. OBJECTIVE: We sought to...
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