User: Guest  Login
Less Searchfields
Simple search
Title:

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

Document type:
Article; Journal Article
Author(s):
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...     »
Journal title abbreviation:
Sci Rep
Year:
2018
Journal volume:
8
Journal issue:
1
Fulltext / DOI:
doi:10.1038/s41598-018-34953-z
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/30425284
Print-ISSN:
2045-2322
TUM Institution:
Institut für Humangenetik; Institut für Klinische Chemie und Pathobiochemie
 BibTeX