Zacharoula Oikonomopoulou1, Stanford Shulman1,2, Marilyn Mets1,3, Ben Katz4,5. 1. Division of Infectious Diseases, Ann & Robert H Lurie Children's Hospital of Chicago, 225 E Chicago Ave., Box 20, Chicago, IL, 60611, USA. 2. Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, USA. 3. Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, USA. 4. Division of Infectious Diseases, Ann & Robert H Lurie Children's Hospital of Chicago, 225 E Chicago Ave., Box 20, Chicago, IL, 60611, USA. bkatz@northwestern.edu. 5. Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, USA. bkatz@northwestern.edu.
Abstract
PURPOSE: Chronic granulomatous disease (CGD) is an uncommon, inborn error of immunity. We updated our large, single-center US experience with CGD and describe some newly recognized features. METHODS: We retrospectively reviewed 26 patients seen from November 2013 to December 2019. Serious infections required intravenous antibiotics or hospitalization. RESULTS: There were 21 males and 5 females. The most frequent infectious agents at presentation were aspergillus (4), serratia (4), burkholderia (2), Staphylococcus aureus (2), and klebsiella (2). The most common serious infections at presentation were pneumonia (6), lymphadenitis (6), and skin abscess (3). Our serious infection rate was 0.2 per patient-year from December 2013 through November 2019, down from 0.62 per patient-year from the previous study period (March 1985-November 2013). In the last 6 years, four patients were evaluated for human stem cell transplantation, two were successfully transplanted, and we had no deaths. Several patients had unusual infections or autoimmune manifestations of disease, such as pneumocystis pneumonia, basidiomycete/phellinus fungal pneumonia, and retinitis pigmentosa. We included one carrier female with unfavorable Lyonization in our cohort. CONCLUSION: We update of a large US single-center experience with CGD and describe some recently identified features of the illness.
PURPOSE: Chronic granulomatous disease (CGD) is an uncommon, inborn error of immunity. We updated our large, single-center US experience with CGD and describe some newly recognized features. METHODS: We retrospectively reviewed 26 patients seen from November 2013 to December 2019. Serious infections required intravenous antibiotics or hospitalization. RESULTS: There were 21 males and 5 females. The most frequent infectious agents at presentation were aspergillus (4), serratia (4), burkholderia (2), Staphylococcus aureus (2), and klebsiella (2). The most common serious infections at presentation were pneumonia (6), lymphadenitis (6), and skin abscess (3). Our serious infection rate was 0.2 per patient-year from December 2013 through November 2019, down from 0.62 per patient-year from the previous study period (March 1985-November 2013). In the last 6 years, four patients were evaluated for human stem cell transplantation, two were successfully transplanted, and we had no deaths. Several patients had unusual infections or autoimmune manifestations of disease, such as pneumocystis pneumonia, basidiomycete/phellinus fungal pneumonia, and retinitis pigmentosa. We included one carrier female with unfavorable Lyonization in our cohort. CONCLUSION: We update of a large US single-center experience with CGD and describe some recently identified features of the illness.
Authors: J Liese; S Kloos; V Jendrossek; T Petropoulou; U Wintergerst; G Notheis; M Gahr; B H Belohradsky Journal: J Pediatr Date: 2000-11 Impact factor: 4.406
Authors: Baldassarre Martire; Roberto Rondelli; Annarosa Soresina; Claudio Pignata; Teresa Broccoletti; Andrea Finocchi; Paolo Rossi; Marco Gattorno; Marco Rabusin; Chiara Azzari; Rosa M Dellepiane; Maria C Pietrogrande; Antonino Trizzino; Paolo Di Bartolomeo; Silvana Martino; Luigi Carpino; Fausto Cossu; Franco Locatelli; Rita Maccario; Paolo Pierani; Maria C Putti; Achille Stabile; Luigi D Notarangelo; Alberto G Ugazio; Alessandro Plebani; Domenico De Mattia Journal: Clin Immunol Date: 2007-11-26 Impact factor: 3.969