Abstract
We identified a novel gain of function mutation in STAT1 in a patient with disseminated Apophysomyces trapeziformis infection who had never had mucocutaneous candidiasis or autoimmunity. To our knowledge this is the first report of a genetic predisposition associated with mucormycosis.
Publication types
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Case Reports
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Letter
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Research Support, N.I.H., Intramural
MeSH terms
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Adult
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B-Lymphocytes / drug effects
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B-Lymphocytes / immunology
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B-Lymphocytes / pathology
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Humans
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Immunologic Deficiency Syndromes / complications
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Immunologic Deficiency Syndromes / genetics*
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Immunologic Deficiency Syndromes / immunology
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Immunologic Deficiency Syndromes / pathology
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Interferon-gamma / pharmacology
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Lymphocyte Activation
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Male
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Mucormycosis / complications
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Mucormycosis / genetics*
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Mucormycosis / immunology
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Mucormycosis / pathology
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Mutation
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Phosphorylation
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STAT1 Transcription Factor / genetics*
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STAT1 Transcription Factor / metabolism
Substances
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STAT1 Transcription Factor
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STAT1 protein, human
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Interferon-gamma