A patient with X-linked dyskeratosis congenita presenting with bronchiolitis obliterans requiring lung transplantation and immunodeficiency

Samuel Goldfarb, Kathleen E. Sullivan, Soma Jyonouchi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)91-93
Number of pages3
JournalPediatric pulmonology
Volume48
Issue number1
DOIs
StatePublished - Jan 2013
Externally publishedYes

Keywords

  • bone marrow failure
  • bronchiolitis obliterans
  • dyskeratosis congenita
  • hypogammaglobulinemia
  • immunodeficiency
  • lung fibrosis

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