title: Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome.
abstract: CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency. A 6-month-old girl with right lung agenesis, congenital heart defects, and ear anomalies developed repeated and serious respiratory infection for a short period. She was clinically diagnosed with typical CHARGE syndrome with severe combined immunodeficiency (T-, B+, NK-); however, CHD7 mutation was not detected. Disseminated BCG infection did not resolve despite administration of anti-tuberculosis drugs and intravenous immune globulins, and she subsequently died of acute respiratory distress syndrome. Pediatr Pulmonol. 2017;52:E4-E6. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Pediatrics, Pusan National University Yangsan Hospital, Yangsan, Gyeongsangnam-do, Korea.
authors.forename: Hyung Young
authors.initials: HY
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Pusan National University Yangsan Hospital, Yangsan, Gyeongsangnam-do, Korea.
authors.forename: Yoo-Mi
authors.initials: YM
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Pusan National University Yangsan Hospital, Yangsan, Gyeongsangnam-do, Korea.
authors.forename: Hee Ju
authors.initials: HJ
authors.lastname: Park
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000276:Adjuvants, Immunologic / Q000009:adverse effects*; D001500:BCG Vaccine / Q000009:adverse effects*; D058747:CHARGE Syndrome / Q000150:complications*; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008168:Lung / Q000002:abnormalities / Q000000981:diagnostic imaging; D008171:Lung Diseases / Q000150:complications / Q000000981:diagnostic imaging; D009154:Mutation; D009163:Mycobacterium bovis; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology* / Q000276:immunology; D016511:Severe Combined Immunodeficiency / Q000150:complications / Q000276:immunology*; D014057:Tomography, X-Ray Computed; D014397:Tuberculosis, Pulmonary / Q000000981:diagnostic imaging / Q000209:etiology* / Q000276:immunology
chemical_list: D000276:Adjuvants, Immunologic; D001500:BCG Vaccine
keywords: CHARGE syndrome; bacillus Calmette-Guérin; disseminated BCG; severe combined immunodeficiency