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Titel:

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation.

Dokumenttyp:
Article; Journal Article
Autor(en):
Hagl, Beate; Spielberger, Benedikt D; Thoene, Silvia; Bonnal, Sophie; Mertes, Christian; Winter, Christof; Nijman, Isaac J; Verduin, Shira; Eberherr, Andreas C; Puel, Anne; Schindler, Detlev; Ruland, Jürgen; Meitinger, Thomas; Gagneur, Julien; Orange, Jordan S; van Gijn, Marielle E; Renner, Ellen D
Abstract:
In hyper-IgE syndromes (HIES), a group of primary immunodeficiencies clinically overlapping with atopic dermatitis, early diagnosis is crucial to initiate appropriate therapy and prevent irreversible complications. Identification of underlying gene defects such as in DOCK8 and STAT3 and corresponding molecular testing has improved diagnosis. Yet, in a child and her newborn sibling with HIES phenotype molecular diagnosis was misleading. Extensive analyses driven by the clinical phenotype identifi...     »
Zeitschriftentitel:
Sci Rep
Jahr:
2018
Band / Volume:
8
Heft / Issue:
1
Volltext / DOI:
doi:10.1038/s41598-018-34953-z
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/30425284
Print-ISSN:
2045-2322
TUM Einrichtung:
Institut für Humangenetik; Institut für Klinische Chemie und Pathobiochemie
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