Article
Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 May 2011
Jyonouchi S, Forbes L, Ruchelli E, Sullivan K E
Abstract excerpt
BACKGROUND: 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. METHODS: This study undertook a retrospective...
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