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Article

Phenotypic Heterogeneity in CD40 Ligand Deficiency: Long-term Follow-up of a Patient with the c.156G > A Splice Variant.

Journal of clinical immunology - 21 Apr 2026

Alroqi Fayhan, AlJaber Abdulrahman N, Althubaiti Nouf, Al Tuwaijri Abeer, Alzaaqi Shouq, Barhoumi Tlili, Almutairi Abduarahman, Almuzzaini Bader, Alsayegh Leena, Nogoud Maysa, Aljedaie Modhi

Abstract excerpt

BACKGROUND: CD40 ligand (CD40L) deficiency causes X-linked Hyper-Immunoglobulin M syndrome (XHIGM) with variable clinical severity. The splice variant c.156G > A (p.Lys52Lys) in CD40LG gene has been previously reported in patients with severe opportunistic infections, including Pneumocystis jirovecii pneumonia and cryptococcal meningoencephalitis. Exploring the phenotypic variability in patients with identical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42009946
DOI: 10.1007/s10875-026-02019-9
PMCID: PMC13230277

Genes

CD40LG
CD40
TNF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Phenotypic Heterogeneity in CD40 Ligand Deficiency: Long-term Follow-up of a Patient with the c.156G > A Splice Variant.PMID 42009946Read ↗

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