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J Clin Immunol. 2018 Oct;38(7):753-756. doi: 10.1007/s10875-018-0554-3. Epub 2018 Oct 13.

Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency.

Author information

1
Department of Pediatrics, Baylor College of Medicine, 1102 Bates, Suite 330, Houston, TX, 77030, USA.
2
Center for Human Immunobiology, Immunology, Allergy, Rheumatology, and Retrovirology, Texas Children's Hospital, Houston, TX, USA.
3
Immunodeficiency Centre for Wales, Department of Immunology, University Hospital of Wales, Cardiff, UK.
4
Department of Haematology, University Hospital of Wales, Cardiff, UK.
5
Department of Pediatrics, Baylor College of Medicine, 1102 Bates, Suite 330, Houston, TX, 77030, USA. lisa.forbes@bcm.edu.
6
Center for Human Immunobiology, Immunology, Allergy, Rheumatology, and Retrovirology, Texas Children's Hospital, Houston, TX, USA. lisa.forbes@bcm.edu.

KEYWORDS:

Chronic mucocutaneous candidiasis; Combined immunodeficiency; Common variable immunodeficiency; Hematopoietic stem cell transplant; STAT1 gain of function

PMID:
30317461
DOI:
10.1007/s10875-018-0554-3

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