Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.R203I
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CD40LG

NM_000074.3:p.R203I

Associated Papers

Case Report: CD40LG Arg203Ile variant underlies atypical phenotype of X-linked hyper IgM syndrome.

Nishikawa T et al.

Frontiers in Immunology, 2025

CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report.

Xu HB et al.

Bmc Pediatrics, 2023

X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis.

Gallagher J et al.

Journal of Clinical Immunology, 2016

Hyper IgM Syndrome: a Report from the USIDNET Registry.

Leven EA et al.

Journal of Clinical Immunology, 2016

The structural basis of hyper IgM deficiency - CD40L mutations.

Thusberg J et al.

Protein Engineering, Design & Selection : Peds, 2007

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.

Lee WI et al.

Blood, 2005

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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."