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  • 1 Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Infektológiai és Gyermekimmunológiai Tanszék Debrecen Nagyerdei krt. 98. 4032
  • | 2 Fővárosi Önkormányzat Heim Pál Gyermekkórház Belgyógyászati Osztály Budapest
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A porc-haj hypoplasia ritka, autoszomális recesszív öröklődésmenetű primer immunhiány-betegség, amelyre a döntően T-sejtes immundeficiencia mellett metaphysealis chondrodysplasia jellemző. A közleményben a szerzők egy esetismertetés kapcsán mutatják be a betegség klinikumát és a jellemző laboratóriumi leleteket, összefoglalják a kórkép molekuláris patomechanizmusával kapcsolatos ismereteket és a kezelés lehetőségeit.

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