Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype
Maria Serena Chiriacò, Arianna De Matteis, Cristina Cifaldi, Gigliola Di Matteo, Beatrice Rivalta, Chiara Passarelli, Chiara Perrone, Antonio Novelli, Fabrizio De Benedetti, Antonella Insalaco, Paolo Palma, Andrea Finocchi
Topics & Concepts
Chronic granulomatous diseasePhenotypeImmunologyGeneImmune dysregulationLoss functionNADPH oxidaseImmune systemPrimary immunodeficiencyMedicineMutationRespiratory failureBiologyGeneticsInternal medicineReactive oxygen speciesNeutrophil, Myeloperoxidase and Oxidative MechanismsS100 Proteins and AnnexinsPeptidase Inhibition and Analysis