Case Report: de novo in-frame deletion in PLCG2 gene: a case report of B-cell lymphopenia, pulmonary bullae, and cutis laxa

Phospholipase C gamma 2 (PLCG2) gene mutations might cause PLCG2-associated antibody deficiency and immune dysregulation (PLAID)/autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) syndrome. They are two forms of autosomal-dominant immune dysregulation (ID). A...

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Bibliographic Details
Main Authors: Xiaoqi Wu, Jingyuan Zhang, Min Shen
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Immunology
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Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1556372/full
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