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J Clin Immunol. 2017 Jan;37(1):12-17. doi: 10.1007/s10875-016-0351-9. Epub 2016 Nov 14.

AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity.

Author information

1
Laboratory Medicine, Experimental Laboratory Immunology, Department of Laboratory Medicine, University Hospitals Leuven and KU Leuven, Leuven, Belgium.
2
Department of Immunology and Microbiology, Childhood Immunology, University Hospitals Leuven and KU Leuven, Leuven, Belgium.
3
Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
4
St. Giles Laboratory of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
5
Department of Biochemistry, Laboratory of Biomolecular Modelling and Design, KU Leuven, Leuven, Belgium.
6
The Howard Hughes Medical Institute, New York, NY, USA.
7
The Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
8
The Imagine Institute, Paris Descartes University, Paris, France.
9
The Pediatric Hematology and Immunology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.
10
Paris Descartes University, Imagine Institute, Paris, France.
11
Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.
12
St Vincent's Clinical School, University of NSW Australia, Darlinghurst, Australia.
13
Department of Immunology and Microbiology, Childhood Immunology, University Hospitals Leuven and KU Leuven, Leuven, Belgium. Isabelle.Meyts@uzleuven.be.
14
Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium. Isabelle.Meyts@uzleuven.be.

KEYWORDS:

Autosomal dominant hyper-IgE syndrome; STAT3; autism; unconventional T cells

PMID:
27844301
DOI:
10.1007/s10875-016-0351-9
[Indexed for MEDLINE]

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