Fiche publication
Date publication
juillet 2025
Journal
BMC immunology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BAHRAM Siamak
,
Dr CARAPITO Raphaël
Tous les auteurs :
Rajabi E, Kheirabadi MC, Olyaei NA, Molitor A, Khorshidi MSM, Heidari M, Abbasi A, Rostami P, Mahdavi M, Carapito R, Shahrooei M, Bahram S, Parvaneh N
Lien Pubmed
Résumé
Complete complement factor I (CFI) deficiency is an inborn error of immunity (IEI) that results in heightened susceptibility to infections and immune dysregulatory disorders. This systematic review seeks to enhance our understanding of the clinical characteristics, genotype-phenotype correlations, and treatment outcomes in patients with complete CFI deficiency, including three novel cases. We conducted a comprehensive literature review of cases published from 1996 to November 2024, identifying 49 patients with homozygous or compound heterozygous mutations in the CFI gene.
Mots clés
Complement Factor I, Complete CFI deficiency, Eculizumab, Immune dysregulation, Inborn error of immunity, Recurrent infections
Référence
BMC Immunol. 2025 07 26;26(1):54
