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  • 1 Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Infektológiai és Gyermekimmunológiai Tanszék Debrecen Nagyerdei krt. 98. 4012
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A Nijmegen–Breakage-szindróma ritka, autoszomális recesszív öröklődésű kórkép, amelyre súlyos kombinált immundeficientia, visszatérő sinopulmonalis fertőzések, a kromoszómainstabilitás és az ionizáló sugárzással szembeni hiperszenzitivitás miatt a malignus betegségek gyakoribb előfordulása, fejlődési rendellenességek, madárarc, progresszív microcephalia, valamint növekedési és mentális retardáció jellemző. A betegség hátterében a DNS-repair-mechanizmusokban fontos szerepet játszó nibrin nevű protein kódolásáért felelős NBS1 gén mutációja áll. A közleményben a szerzők két esetismertetés kapcsán bemutatják a betegség klinikumát, a jellemző laboratóriumi leleteket, és összefoglalják a kórkép molekuláris patomechanizmusával kapcsolatos ismereteket, valamint a kezelés lehetőségeit.

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