Celiac-like sprue in Nijmegen breakage syndrome: successful treatment with budesonide

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
Hauptverfasser: Pasic, S, Ristic, G, Djuricic, S, Prokic, D, Zdravkovic, S
Format: Artikel
Sprache:eng
Schlagworte:
Adult
Budesonide - therapeutic use
Celiac Disease - drug therapy
Humans
Male
Nijmegen Breakage Syndrome - complications
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Zusammenfassung: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.
ISSN:1018-9068