Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation

J Allergy Clin Immunol. 2016 Jul;138(1):297-299. doi: 10.1016/j.jaci.2015.12.1320. Epub 2016 Mar 2.

Authors

Ali Sobh¹, Janet Chou², Lynda Schneider², Raif S Geha², Michel J Massaad³

Affiliations

¹ Division of Immunology, Boston Children's Hospital, Boston, Mass; Department of Pediatrics, Harvard Medical School, Boston, Mass; Pediatric Infectious Diseases Unit, Mansoura University Children Hospital, Mansoura Faculty of Medicine, Mansoura, Egypt.
² Division of Immunology, Boston Children's Hospital, Boston, Mass; Department of Pediatrics, Harvard Medical School, Boston, Mass.
³ Division of Immunology, Boston Children's Hospital, Boston, Mass; Department of Pediatrics, Harvard Medical School, Boston, Mass. Electronic address: michel.massaad@childrens.harvard.edu.

PMID: 26948078
DOI: 10.1016/j.jaci.2015.12.1320

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Amino Acid Sequence
B-Lymphocytes / immunology
B-Lymphocytes / pathology
Candidiasis, Chronic Mucocutaneous / genetics*
Candidiasis, Chronic Mucocutaneous / immunology
Candidiasis, Chronic Mucocutaneous / microbiology
Candidiasis, Chronic Mucocutaneous / pathology
Chronic Disease
Female
Gene Expression
Humans
Killer Cells, Natural / immunology
Killer Cells, Natural / pathology
Lymphocyte Count
Lymphopenia / genetics*
Lymphopenia / immunology
Lymphopenia / microbiology
Lymphopenia / pathology
Mutation*
Phosphorylation
Protein Domains
STAT1 Transcription Factor / genetics*
STAT1 Transcription Factor / immunology
Sequence Alignment
T-Lymphocytes / immunology
T-Lymphocytes / pathology

Substances

STAT1 Transcription Factor
STAT1 protein, human