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Article

Gain-of-Function Mutations inSTAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies

1 Jan 2017

Abstract excerpt

Chronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails. A 26-month-old girl was admitted with the complaints of recurrent oral Candidiasis, diarrhea, and respiratory infections.Candida albicansgrew in oral mucosa swab. CMV and EBV DNA titers were elevated. She had hypergammaglobulinemia; IgE level, percentages of lymphocyte...

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Identifiers

PMID: 29259832
DOI: 10.1155/2017/2846928

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Gain-of-Function Mutations inSTAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined ImmunodeficienciesPMID 29259832Read ↗

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