title: A patient with X-linked dyskeratosis congenita presenting with bronchiolitis obliterans requiring lung transplantation and immunodeficiency.
abstract: Dyskeratosis congenita (DKC) is a syndrome characterized by immunodeficiency, bone marrow (BM) failure, somatic abnormalities, and predisposition to malignancy, resulting from mutations in proteins involved in maintenance of telomeres. Pulmonary fibrosis resulting in respiratory failure is a serious complication affecting approximately 20% of DKC patients. Pediatric pulmonologists should consider this diagnosis in patients with lung fibrosis and concurrent immunodeficiency or BM failure.
authors.affiliation: Division of Pulmonology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
authors.forename: Samuel
authors.initials: S
authors.lastname: Goldfarb
authors.forename: Kathleen E
authors.initials: KE
authors.lastname: Sullivan
authors.forename: Soma
authors.initials: S
authors.lastname: Jyonouchi
mesh_terms: D001989:Bronchiolitis Obliterans / Q000209:etiology / Q000628:therapy*; D002675:Child, Preschool; D003131:Combined Modality Therapy; D019871:Dyskeratosis Congenita / Q000150:complications; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications; D016040:Lung Transplantation; D008297:Male