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Article

Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome.

Pediatric pulmonology - 1 Feb 2017

Kim Hyung Young, Kim Yoo-Mi, Park Hee Ju

Abstract excerpt

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...

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Source

Identifiers

PMID: 27875026
DOI: 10.1002/ppul.23533

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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