Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.R200*
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CD40LG

NM_000074.3:p.R200*

Associated Papers

Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study.

Fan H et al.

Frontiers in Immunology, 2025

Talaromyces marneffei Infections in 8 Chinese Children with Inborn Errors of Immunity.

Wang L et al.

Mycopathologia, 2022

Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China.

Fan H et al.

Bmc Pediatrics, 2022

Peripheral immune profile of children with Talaromyces marneffei infections: a retrospective analysis of 21 cases.

Zeng Q et al.

Bmc Infectious Diseases, 2021

Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again.

Hirbod-Mobarakeh A et al.

Expert Review of Clinical Immunology, 2014

Pneumocystis jiroveci pneumonia revealing de novo mutation causing X-linked hyper-IgM syndrome in an infant male. The first case reported from French Guiana.

Elenga N et al.

Journal of Pediatric Hematology/oncology, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."