Qinhua Zhou1, Xiaoying Hui1, Wenjing Ying1, Jia Hou1, Wenjie Wang1, Danru Liu1, Ying Wang1, Yeheng Yu1, Jingyi Wang1, Jinqiao Sun1, Qian Zhang2, Xiaochuan Wang3. 1. Department of Allergy and Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. 2. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. 3. Department of Allergy and Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. xchwang@shmu.edu.cn.
Abstract
PURPOSE: Clinical diagnosis and treatment for chronic granulomatous disease (CGD) have advanced greatly in recent years. However, CGD patients in China have unique clinical features and infection spectrums, which are challenging to their caretakers. Here, we summarized the clinical characteristics, genetic features, treatment, and prognosis of CGD in a single center in Shanghai. METHODS: One hundred sixty-nine CGD patients were recruited between January 2004 and May 2017 based on clinical diagnosis. Electronic medical charts were reviewed to collect clinical data. RESULTS: Among the 169 patients recruited, CYBB mutations were identified in 150 cases, whereas CYBA mutations were identified in 7 cases, NCF1 in 5, and NCF2 in 7. The medium age at onset was 1 month (interquartile range 1-3). The medium age at diagnosis was 8 months (interquartile range 3-19). The most common infection sites were the lung (95.9%), lymph node (58.5%), skin (45.4%), intestinal (43.1%), and perianal (38.5%). Bacillus Calmette-Guérin (BCG) infections were common (59.2%). In addition, other non-infectious complications were also common, including anemia (55.4%) and impaired liver functions (34.6%). Thirty-one patients received stem cell transplantation. By the end of this study, 83/131 patients survived. CONCLUSIONS: Similar to other non-consanguineous populations, X-linked CGD accounted for the majority of the cases in China. However, BCG infections were a clinical challenge unique to China. In addition, severe infections were the major cause of death and the overall mortality was still high in China.
PURPOSE: Clinical diagnosis and treatment for chronic granulomatous disease (CGD) have advanced greatly in recent years. However, CGDpatients in China have unique clinical features and infection spectrums, which are challenging to their caretakers. Here, we summarized the clinical characteristics, genetic features, treatment, and prognosis of CGD in a single center in Shanghai. METHODS: One hundred sixty-nine CGDpatients were recruited between January 2004 and May 2017 based on clinical diagnosis. Electronic medical charts were reviewed to collect clinical data. RESULTS: Among the 169 patients recruited, CYBB mutations were identified in 150 cases, whereas CYBA mutations were identified in 7 cases, NCF1 in 5, and NCF2 in 7. The medium age at onset was 1 month (interquartile range 1-3). The medium age at diagnosis was 8 months (interquartile range 3-19). The most common infection sites were the lung (95.9%), lymph node (58.5%), skin (45.4%), intestinal (43.1%), and perianal (38.5%). Bacillus Calmette-Guérin (BCG) infections were common (59.2%). In addition, other non-infectious complications were also common, including anemia (55.4%) and impaired liver functions (34.6%). Thirty-one patients received stem cell transplantation. By the end of this study, 83/131 patients survived. CONCLUSIONS: Similar to other non-consanguineous populations, X-linked CGD accounted for the majority of the cases in China. However, BCG infections were a clinical challenge unique to China. In addition, severe infections were the major cause of death and the overall mortality was still high in China.
Authors: David E Greenberg; Joanna B Goldberg; Frida Stock; Patrick R Murray; Steven M Holland; John J Lipuma Journal: Clin Infect Dis Date: 2009-06-01 Impact factor: 9.079
Authors: Ben De Pauw; Thomas J Walsh; J Peter Donnelly; David A Stevens; John E Edwards; Thierry Calandra; Peter G Pappas; Johan Maertens; Olivier Lortholary; Carol A Kauffman; David W Denning; Thomas F Patterson; Georg Maschmeyer; Jacques Bille; William E Dismukes; Raoul Herbrecht; William W Hope; Christopher C Kibbler; Bart Jan Kullberg; Kieren A Marr; Patricia Muñoz; Frank C Odds; John R Perfect; Angela Restrepo; Markus Ruhnke; Brahm H Segal; Jack D Sobel; Tania C Sorrell; Claudio Viscoli; John R Wingard; Theoklis Zaoutis; John E Bennett Journal: Clin Infect Dis Date: 2008-06-15 Impact factor: 9.079
Authors: Anders Åhlin; Jakob Fugeläng; Martin de Boer; Olle Ringden; Anders Fasth; Jacek Winiarski Journal: Acta Paediatr Date: 2013-09-10 Impact factor: 2.299
Authors: T Barkai; R Somech; A Broides; R Gavrieli; B Wolach; N Marcus; D Hagin; T Stauber Journal: Clin Exp Immunol Date: 2020-07-13 Impact factor: 4.330
Authors: Paula T Lyra; Edvaldo Souza; Ana Carla A Moura; Marina C Matta; Leuridan C Torres; Antonio Victor Campos Coelho; Maria Ângela W Rocha; Luiz Arraes; João Bosco Oliveira Journal: J Clin Immunol Date: 2022-07-30 Impact factor: 8.542
Authors: Lizbeth Blancas-Galicia; Eros Santos-Chávez; Caroline Deswarte; Quentin Mignac; Isabel Medina-Vera; Ximena León-Lara; Manon Roynard; Selma C Scheffler-Mendoza; Ricardo Rioja-Valencia; Alexandra Alvirde-Ayala; Saul O Lugo Reyes; Tamara Staines-Boone; Jorge García-Campos; Omar J Saucedo-Ramírez; Blanca E Del-Río Navarro; Antonio Zamora-Chávez; Arturo López-Larios; Susana García-Pavón-Osorio; Eugenia Melgoza-Arcos; María R Canseco-Raymundo; Dolores Mogica-Martínez; Marco Venancio-Hernández; Daniel Pacheco-Rosas; Sigifredo Pedraza-Sánchez; Martha Guevara-Cruz; Federico Saracho-Weber; Berenise Gámez-González; Guillermo Wakida-Kuzunoki; Ana R Morán-Mendoza; Ana P Macías-Robles; Roselia Ramírez-Rivera; Eugenia Vargas-Camaño; Carmen Zarate-Hernández; Héctor Gómez-Tello; Emmanuel Ramírez-Sánchez; Fredy Ruíz-Hernández; Domingo Ramos-López; Héctor Acuña-Martínez; María L García-Cruz; María G Román-Jiménez; Marina G González-Villarreal; Aristóteles Álvarez-Cardona; Beatriz A Llamas-Guillén; Jennifer Cuellar-Rodríguez; Alberto Olaya-Vargas; Nideshda Ramírez-Uribe; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Francisco J Espinosa-Rosales; Jeanet Serafín-López; Marco Yamazaki-Nakashimada; Sara Espinosa-Padilla; Jacinta Bustamante Journal: J Clin Immunol Date: 2020-02-10 Impact factor: 8.542