Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia

Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia

BackgroundUNC13D deficiency is the most common form of familial hemophagocytic lymphohistiocytosis (FHL) in Asia. Hypogammaglobulinemia is a rare phenotype observed in both patients with FHL3 and sporadic hemophagocytic lymphohistiocytosis (HLH). Our observations suggest that UNC13D deficiency with...

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Main Authors: Linyan Xiong, Qin Zhao, Qian Zhao, Zhiyong Zhang, Yunfei An, Xuemei Tang, Hirokazu Kanegane, Xi Yang, Xiaodong Zhao
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Immunology
Subjects:
hemophagocytic lymphohistiocytosis
familial hemophagocytic lymphohistiocytosis
UNC13D
hypogammaglobulinemia
antibody deficiency
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1628507/full
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