Article
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature.
Journal of clinical immunology - 1 Feb 2022
Marzollo Antonio, Conti Francesca, Rossini Linda, Rivalta Beatrice, Leonardi Lucia, Tretti Caterina, Tosato Francesca, Chiriaco Maria, Ursu Giorgiana Madalina, Natalucci Cristina Tea, Martella Maddalena, Borghesi Alessandro, Mancini Cecilia, Ciolfi Andrea, di Matteo Gigliola, Tartaglia Marco, Cancrini Caterina, Dotta Andrea, Biffi Alessandra, Finocchi Andrea, Bresolin Silvia
Abstract excerpt
Chronic granulomatous disease (CGD) is a rare inborn error of immunity (IEI), characterized by a deficient phagocyte killing due to the inability of NADPH oxidase to produce reactive oxygen species in the phagosome. Patients with CGD suffer from severe and recurrent infections and chronic inflammatory disorders. Onset of CGD has been rarely reported in neonates and only as single case reports or small case...
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