Abstract
A novel STAT2 variant causing complete STAT2 protein abrogation presents with hemophagocytic lymphohistiocytosis (HLH). This is the first report of HLH in association with STAT2 deficiency.
Publication types
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Case Reports
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Letter
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Child, Preschool
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Genetic Diseases, Inborn* / genetics
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Genetic Diseases, Inborn* / immunology
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Genetic Diseases, Inborn* / pathology
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Homozygote*
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Humans
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Lymphohistiocytosis, Hemophagocytic* / genetics
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Lymphohistiocytosis, Hemophagocytic* / immunology
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Lymphohistiocytosis, Hemophagocytic* / pathology
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Male
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Mutation
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STAT2 Transcription Factor* / genetics
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STAT2 Transcription Factor* / immunology
Substances
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STAT2 Transcription Factor
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STAT2 protein, human