A Novel de Novo Mutation in the CD40 Ligand Gene in a Patient With a Mild X-Linked Hyper-IgM Phenotype Initially Diagnosed as CVID: New Aspects of Old Diseases

Frontiers in Pediatrics
Tábata T FrançaAntonio Condino-Neto

Abstract

Mutations in the CD40 ligand (CD40L) gene (CD40LG) lead to X-linked hyper-IgM syndrome (X-HIGM), which is a primary immunodeficiency (PID) characterized by decreased serum levels of IgG and IgA and normal or elevated IgM levels. Although most X-HIGM patients become symptomatic during the first or second year of life, during which they exhibit recurrent infections, some patients exhibit mild phenotypes, which are usually associated with hypomorphic mutations that do not abrogate protein expression or function. Here, we describe a 28-year-old man who initially presented with recurrent infections since the age of 7 years, when he exhibited meningitis caused by Cryptococcus neoformans. The patient had no family history of immunodeficiency, and based on clinical and laboratory presentation, he was initially diagnosed with common variable immunodeficiency (CVID). In subsequent years, he displayed several sporadic episodes of infection, including pneumonia, pharyngotonsillitis, acute otitis media, rhinosinusitis, fungal dermatosis, and intestinal helminthiasis. The evaluation of CD40L expression on the surface of activated CD3+CD4+ T cells from the patient showed decreased expression of CD40L. Genetic analysis revealed a novel de novo...Continue Reading

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Citations

Jan 27, 2019·Expert Review of Clinical Immunology·Tabata T FrançaAntonio Condino-Neto
Dec 14, 2019·Allergologia et immunopathologia·L F B LeiteW C N Forte
Nov 30, 2021·Clinical and Experimental Medicine·Nguyen Thi Kim LienNguyen Huy Hoang
Jan 5, 2022·Journal of Clinical Immunology·Tábata Takahashi FrançaAntonio Condino-Neto

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Methods Mentioned

BETA
flow cytometry
PMA

Software Mentioned

Mutation Taster

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