Articles with "adult heterozygous" as a keyword



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Autoinflammation Masquerading as Autoimmunity in an Adult with Heterozygous p.E250K PSTPIP1 Mutation

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Published in 2019 at "Journal of Clinical Immunology"

DOI: 10.1007/s10875-019-00646-z

Abstract: To the Editor, PSTPIP-1-associated myeloid-related proteinemia inflammatory syndrome (PAMI) is a rare autoinflammatory disease that typically presents in childhood, characterized by high serum levels of zinc and the alarmin calprotectin. It is associated with the… read more here.

Keywords: autoimmunity adult; adult heterozygous; pstpip1; autoinflammation masquerading ... See more keywords