Genetic analysis of a female patient with X-linked lymphoproliferative disease type 2: a case report

Abstract Background X-linked lymphoproliferative syndrome type 2 is a relatively rare primary immunodeficiency disease caused by mutations in XIAP. X-linked lymphoproliferative syndrome type 2 typically occurs in male individuals, while female individuals are carriers of the pathogenic gene mutation...

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Bibliographic Details
Main Authors: Yalin Sun, Shu Teng, Wen Li, Huaping Wang, Zhenghong Qi
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Journal of Medical Case Reports
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Online Access:https://doi.org/10.1186/s13256-025-05237-8
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