Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity

Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity

Primary complement system (C) deficiencies are rare but notably associated with an increased risk of infections, autoimmunity, or immune disorders. Patients with terminal pathway C-deficiency have a 1,000- to 10,000-fold-higher risk of Neisseria meningitidis infections and should be therefore prompt...

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Bibliographic Details
Main Authors: Andrea Balduit, Anna Monica Bianco, Alessandro Mangogna, Anna Maria Zicari, Lucia Leonardi, Bianca Laura Cinicola, Martina Capponi, Alberto Tommasini, Chiara Agostinis, Adamo Pio d’Adamo, Roberta Bulla
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Immunology
Subjects:
complement component 7 (C7)
complement system
primary immunodeficiency
complement deficiency
functional hemizygosity
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2023.1192690/full

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https://www.frontiersin.org/articles/10.3389/fimmu.2023.1192690/full

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