Article
Case Report: A Rare Case of Autoinflammatory Phospholipase Cγ2 (PLCγ2)-Associated Antibody Deficiency and Immune Dysregulation Complicated With Gangrenous Pyoderma and Literature Review.
Frontiers in immunology - 1 Jan 2021
Wu Na, Zhang Bingqing, Wang Tao, Shen Min, Zeng Xuejun
Abstract excerpt
Background: Autoinflammatory phospholipase Cγ2 (PLCγ2)-associated antibody deficiency and immune dysregulation (APLAID) is a rare autoinflammatory disease caused by gain-of-function mutations in the PLCG2 gene. Here we report a rare case of APLAID patient carrying a novel heterozygous missense PLCG2 I169V mutation with gangrenous pyoderma and concomitant high serum immunoglobulin (Ig) E level. Methods: The...
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