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- Title
Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience.
- Authors
Jyonouchi, S; Forbes, L; Ruchelli, E; Sullivan, K E
- Abstract
Dyskeratosis Congenita (DKC) is a syndrome characterized by immunodeficiency, bone marrow failure, somatic abnormalities, and cancer predisposition resulting from defective telomere maintenance. The immunologic features of DKC remain under diagnosed and under treated despite the fact that immunodeficiency is a major cause of premature mortality in DKC.
- Publication
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, 2011, Vol 22, Issue 3, p313
- ISSN
1399-3038
- Publication type
Journal Article
- DOI
10.1111/j.1399-3038.2010.01136.x