Celiac-like sprue in Nijmegen breakage syndrome: successful treatment with budesonide
Nijmegen breakage syndrome (NBS) is a rare DNA repair disorder characterized by microcephaly, normal intelligence, primary immunodeficiency, and predisposition to cancer [1,2]. It has been reported in different populations but the vast majority of patients are of Slavic origin (Central-East Europe)...
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Veröffentlicht in: | Journal of investigational allergology & clinical immunology 2014, Vol.24 (2), p.128-129 |
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creator | Pasic, S Ristic, G Djuricic, S Prokic, D Zdravkovic, S |
description | Nijmegen breakage syndrome (NBS) is a rare DNA repair disorder characterized by microcephaly, normal intelligence, primary immunodeficiency, and predisposition to cancer [1,2]. It has been reported in different populations but the vast majority of patients are of Slavic origin (Central-East Europe) and are homozygous for a founder mutation of the NBS1 gene: the 5-base-pair deletion 657del.A. |
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It has been reported in different populations but the vast majority of patients are of Slavic origin (Central-East Europe) and are homozygous for a founder mutation of the NBS1 gene: the 5-base-pair deletion 657del.A.</abstract><cop>Spain</cop><pmid>24834778</pmid><tpages>2</tpages></addata></record> |
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source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
subjects | Adult Budesonide - therapeutic use Celiac Disease - drug therapy Humans Male Nijmegen Breakage Syndrome - complications |
title | Celiac-like sprue in Nijmegen breakage syndrome: successful treatment with budesonide |
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