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Article

Advanced computational analysis of CD40LG variants in atypical X-linked hyper-IgM syndrome.

Clinical immunology (Orlando, Fla.) - 1 Aug 2023

Pazhanisamy Amudha, Jorge Salomao Doria, Zimmermann Michael T, Kitcharoensakkul Maleewan, Abdalgani Manar, Khojah Amer, Victor Christian, Rueda Cesar, Urrutia Raul, Abraham Roshini S

Abstract excerpt

X-Linked Hyper-IgM Syndrome is caused by pathogenic variants in CD40LG. Three patients with atypical clinical and immunological features were identified with variants in CD40LG requiring further characterization. Flow cytometry was used to evaluate CD40L protein expression and binding capacity to a surrogate receptor, CD40-muIg. Though functional anomalies were observed, there was still a lack of clarity...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37433422
DOI: 10.1016/j.clim.2023.109692

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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