Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10292784" target="_blank" >RIV/00064203:_____/14:10292784 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/14:10292784
Result on the web
<a href="http://dx.doi.org/10.1016/j.jaci.2013.11.028" target="_blank" >http://dx.doi.org/10.1016/j.jaci.2013.11.028</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.jaci.2013.11.028" target="_blank" >10.1016/j.jaci.2013.11.028</a>

Result language
angličtina
Original language name
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes
Original language description
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 study the immunologic mechanisms causing the clinical spectrum of RAG deficiency. Methods: We included 22 patients with similar RAG1 mutations (c.519delT or c.368_369delAA) resulting in N-terminal truncated RAG1 protein with residual recombination activity but presenting with different clinical phenotypes. We studied precursor B-cell development, immunoglobulin and T-cell receptor repertoire formation, receptor editing, and B-and T-cell numbers. Results: Clinically, patients were divided into 3 main categories: T-B- severe combined immunodeficiency, Omenn syndrome, and combined
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EC - Immunology
OECD FORD branch
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Project
<a href="/en/project/NT13271" target="_blank" >NT13271: Phenotyping B- and T-cells in immunodeficiency</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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