Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis.
Department of Medicine, University of Alabama at Birmingham, Birmingham, Ala.
Nilay
N
Kumar
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Mary E
ME
Hanks
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Prabha
P
Chandrasekaran
Department of Medicine, University of Alabama at Birmingham, Birmingham, Ala.
Brian C
BC
Davis
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Amy P
AP
Hsu
Division of Infectious Diseases, Department of Medicine, University of Alabama at Birmingham, Birmingham, Ala.
Nicholas J
NJ
Van Wagoner
Division of Infectious Diseases, Department of Medicine, University of Alabama at Birmingham, Birmingham, Ala.
Jessica S
JS
Merlin
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Christine
C
Spalding
Section on Infectious Diseases, Department of Medicine, Wake Forest University School of Medicine, Winston-Salem, NC.
Ricardo M
RM
La Hoz
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Steven M
SM
Holland
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Christa S
CS
Zerbe
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: sampaioe@niaid.nih.gov.
Elizabeth P
EP
Sampaio
D000328:Adult; D001402:B-Lymphocytes / Q000187:drug effects / Q000276:immunology / Q000473:pathology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D007371:Interferon-gamma / Q000494:pharmacology; D008213:Lymphocyte Activation; D008297:Male; D009091:Mucormycosis / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D009154:Mutation; D010766:Phosphorylation; D050794:STAT1 Transcription Factor / Q000235:genetics* / Q000378:metabolism
D050794:STAT1 Transcription Factor; C494079:STAT1 protein, human; D007371:Interferon-gamma