Article
Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity.
Frontiers in immunology - 1 Jan 2023
Balduit Andrea, Bianco Anna Monica, Mangogna Alessandro, Zicari Anna Maria, Leonardi Lucia, Cinicola Bianca Laura, Capponi Martina, Tommasini Alberto, Agostinis Chiara, d'Adamo Adamo Pio, Bulla Roberta
Abstract excerpt
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 promptly identified to minimize the likelihood of further infections and to favor vaccination. In this paper, we performed...
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