Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes
Identifikátory výsledku
Kód výsledku v 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>
Nalezeny alternativní kódy
RIV/00216208:11130/14:10292784
Výsledek na webu
<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>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes
Popis výsledku v původním jazyce
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
Název v anglickém jazyce
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes
Popis výsledku anglicky
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
Klasifikace
Druh
J<sub>x</sub> - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
CEP obor
EC - Imunologie
OECD FORD obor
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Návaznosti výsledku
Projekt
<a href="/cs/project/NT13271" target="_blank" >NT13271: Fenotypizace T- a B-lymfocytů u imunodeficientních pacientů</a><br>
Návaznosti
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Ostatní
Rok uplatnění
2014
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Journal of Allergy and Clinical Immunology
ISSN
0091-6749
e-ISSN
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Svazek periodika
133
Číslo periodika v rámci svazku
4
Stát vydavatele periodika
US - Spojené státy americké
Počet stran výsledku
11
Strana od-do
1124-1133
Kód UT WoS článku
000333531700024
EID výsledku v databázi Scopus
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