An Atypical Presentation of X-linked Lymphoproliferative Disease type 1 Presenting with Seronegative Coccidioidomycosis

Jonathon Schening,James Woodward,Ifat Krase,Bridget Wilson,Holly Miller,Cindy Bauer, Rajeev Bhatia,Roshini Abraham,Keith Sacco

Clinical Immunology（2023）

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摘要

X-linked lymphoproliferative disease (XLP-1), an inborn error of immunity (IEI) caused by pathogenic variants in SH2D1A encoding signaling lymphocyte activation molecule-associated protein (SAP), is characterized by hemophagocytic lymphohistiocytosis (HLH), lymphoma, and hypogammaglobulinemia. We report the first known case of XLP-1 presenting with seronegative coccidioidomycosis.

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关键词

lymphoproliferative disease type,x-linked

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