Abstract
GATA2 deficiency is characterized by monocytopenia, deficiency of dendritic cells, and a variable degree of lymphocytopenia affecting B cells and NK cells, leading to an enhanced risk of mycobacterial, viral, and fungal infections. Here we present a patient with a heterozygous intronic GATA2 mutation who acquired a fatal disseminated mycosis due to the black yeast-like fungus Arthrocladium fulminans following an infection with Mycobacterium sherrisii. This case illustrates that in patients with severe uncommon infections, immunodeficiency syndromes must be ruled out.
Keywords:
Arthrocladium fulminans; GATA2; Immunodeficiency syndrome; Melanized fungus; MonoMAC; Mycobacterium sherrisii.
© 2019 S. Karger AG, Basel.
MeSH terms
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Antifungal Agents / administration & dosage*
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Brain / diagnostic imaging
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Bronchoscopy / methods
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Clinical Deterioration
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Fatal Outcome
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Female
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Fungi* / isolation & purification
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Fungi* / pathogenicity
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GATA2 Deficiency* / diagnosis
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GATA2 Deficiency* / immunology
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GATA2 Deficiency* / physiopathology
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GATA2 Deficiency* / therapy
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GATA2 Transcription Factor / genetics
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Humans
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Immunologic Deficiency Syndromes* / blood
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Immunologic Deficiency Syndromes* / diagnosis
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Immunologic Deficiency Syndromes* / therapy
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Invasive Fungal Infections* / diagnosis
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Invasive Fungal Infections* / immunology
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Invasive Fungal Infections* / physiopathology
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Invasive Fungal Infections* / therapy
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Lung* / diagnostic imaging
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Lung* / microbiology
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Mutation
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Tomography, X-Ray Computed / methods
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Young Adult
Substances
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Antifungal Agents
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GATA2 Transcription Factor
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GATA2 protein, human