title: Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review.
abstract: Chronic Granulomatous Disease (CGD) is a rare inherited primary immunodeficiency, which is characterized by recurrent infections due to defective phagocyte NADPH oxidase enzyme. Nowadays, little is known about Chinese CGD patients. Here we report 48 CGD patients in our single center study, which is the largest cohort study from Mainland China. The ratio of male to female was 11 : 1. The mean onset age was 0.29 years old, and 52% patients had an onset within the 1st month of life. The mean diagnosis age was 2.24 years old. 11 patients (23%) had died with an average age of 2.91 years old. 13 patients (28%) had positive family histories. The most prevalent infectious sites were the lungs (77%), followed by gastrointestinal tract (54%), lymph nodes (50%), and skin (46%). In addition, septicopyemia, thrush, and hepatosplenomegaly were also commonly observed, accounting for 23%, 23%, and 40% of the cases. Lesions due to BCG vaccination occurred in more than half of the patients. X-linked CGD due toCYBBgene mutations accounted for 75% of the cases, and 11 of them were novel mutations. Autosomal recessive inheritance accounted for 6% patients, including 1 patient withCYBA,1 withNCF1, and 1 withNCF2gene mutations.
authors.affiliation: Department of Allergy and Immunology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China; Division of Immunology, Institute of Pediatric Translational Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Wu
authors.affiliation: Department of Allergy and Immunology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China; Division of Immunology, Institute of Pediatric Translational Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
authors.forename: Wei-Fan
authors.initials: WF
authors.lastname: Wang
authors.affiliation: Department of Internal Medicine, The Affiliated Hospital to Changchun University of Chinese Medicine, Changchun 130021, China.
authors.forename: Yi-Dan
authors.initials: YD
authors.lastname: Zhang
authors.affiliation: Department of Allergy and Immunology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China; Division of Immunology, Institute of Pediatric Translational Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
authors.forename: Tong-Xin
authors.identifier: 0000-0001-6000-3471
authors.initials: TX
authors.lastname: Chen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001500:BCG Vaccine / Q000009:adverse effects; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D015331:Cohort Studies; D005260:Female; D041981:Gastrointestinal Tract / Q000382:microbiology; D005820:Genetic Testing; D006105:Granulomatous Disease, Chronic / Q000151:congenital / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics; D007223:Infant; D008168:Lung / Q000382:microbiology; D008198:Lymph Nodes / Q000382:microbiology; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics; D012867:Skin / Q000382:microbiology; D055815:Young Adult
chemical_list: D001500:BCG Vaccine; D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases; C527764:NCF2 protein, human; C060505:neutrophil cytosolic factor 1