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Two novel CD40LG gene mutations causing X-linked hyper IgM syndrome in Vietnamese patients.

Clinical and experimental medicine - 1 Feb 2023

Lien Nguyen Thi Kim, Van Anh Nguyen Thi, Chi Le Quynh, Le Nguyen Ngoc Quynh, Huyen Thuc Thanh, Mai Nguyen Thi Phuong, Van Tung Nguyen, Hoang Nguyen Huy

Abstract excerpt

The X-linked hyper IgM syndrome is a primary immunodeficiency disorder (PID) due to mutations in the CD40LG gene. Hyper IgM syndrome is characterized by the absence or decreased levels of IgG and IgA and normal or elevated IgM levels in serum. Affected patients become susceptible to infections such as pneumonia, diarrhea, and skin ulcer types. Hematopoietic stem cell transplantation is the only treatment...

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PMID: 34842998
DOI: 10.1007/s10238-021-00774-0

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