Şeyhan Kutluğ1, Gülnar Şensoy2, Asuman Birinci3, Berkay Saraymen4, Mustafa Yavuz Köker4,5, Alişan Yιldιran1. 1. Department of Pediatrics, Division of Immunology and Allergy, Faculty of Medicine, Ondokuz Mayιs University, Samsun, Turkey. 2. Department of Pediatrics, Division of Pediatric Infectious Diseases, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey. 3. Department of Medical Microbiology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey. 4. Department of Immunology, Faculty of Medicine, University of Erciyes, Kayseri, Turkey. 5. Kök Biotek, Technocity of University of Erciyes, Kayseri, Turkey.
Abstract
BACKGROUND: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme system. This disease causes the disordered functioning of phagocytic cells. It is characterized by life-threatening and/or recurrent infections by bacteria and fungi. CGD has both an X-linked recessive (X-CGD) and autosomal recessive (AR-CGD) phenotypes. AR form have four subtypes including defects with one of these NADPH oxidase components (p22, p40, p47 and p67phox). OBJECTIVES: To report the clinical and laboratory characteristics of seven CGD patients based on their genetic characteristics. METHODS: Seven boys with CGD were reviewed based on clinical findings and genetic results. Dihydrorhodamine-1,2,3 (DHR) assay was used as a diagnostic test. Genetic analysis was conducted to establish moleculer diagnoses in all patients. RESULTS: The age of diagnosis varied between 1.5 years and 15 years. The most frequent clinical presentation was pneumonia, and two patients had BCG-itis. Four patients had the AR-CGD phenotype, and three patients had the X-CGD phenotype. Severe invasive infections due to Aspergillus, Staphylococcus, and Serratia species were reported. Frequent lung and lymph node involvement was observed during follow-up of the cases. CONCLUSIONS: CGD is life-threatening disease that involves deep-seated infection. In our patients, the most commonly affected organs were the lungs and lymph nodes. Phagocytic disorders should be considered in cases of recurrent infectious diseases, invasive fungal diseases, BCG complications that are not self-limiting, unexplained lymphadenitis or osteomyelitis, and chronic inflammatory disorders.
BACKGROUND:Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme system. This disease causes the disordered functioning of phagocytic cells. It is characterized by life-threatening and/or recurrent infections by bacteria and fungi. CGD has both an X-linked recessive (X-CGD) and autosomal recessive (AR-CGD) phenotypes. AR form have four subtypes including defects with one of these NADPH oxidase components (p22, p40, p47 and p67phox). OBJECTIVES: To report the clinical and laboratory characteristics of seven CGDpatients based on their genetic characteristics. METHODS: Seven boys with CGD were reviewed based on clinical findings and genetic results. Dihydrorhodamine-1,2,3 (DHR) assay was used as a diagnostic test. Genetic analysis was conducted to establish moleculer diagnoses in all patients. RESULTS: The age of diagnosis varied between 1.5 years and 15 years. The most frequent clinical presentation was pneumonia, and two patients had BCG-itis. Four patients had the AR-CGD phenotype, and three patients had the X-CGD phenotype. Severe invasive infections due to Aspergillus, Staphylococcus, and Serratia species were reported. Frequent lung and lymph node involvement was observed during follow-up of the cases. CONCLUSIONS:CGD is life-threatening disease that involves deep-seated infection. In our patients, the most commonly affected organs were the lungs and lymph nodes. Phagocytic disorders should be considered in cases of recurrent infectious diseases, invasive fungal diseases, BCG complications that are not self-limiting, unexplained lymphadenitis or osteomyelitis, and chronic inflammatory disorders.
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