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 language | English (US) |
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Pages (from-to) | 91-93 |
Number of pages | 3 |
Journal | Pediatric pulmonology |
Volume | 48 |
Issue number | 1 |
DOIs | |
State | Published - Jan 2013 |
Externally published | Yes |
Keywords
- bone marrow failure
- bronchiolitis obliterans
- dyskeratosis congenita
- hypogammaglobulinemia
- immunodeficiency
- lung fibrosis