Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
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Pediatr Allergy Immunol · May 2011
ReviewDyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience.
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. ⋯ In DKC, development of immunologic abnormalities can precede bone marrow failure, highlighting the importance of proper immunodeficiency management to minimize morbidity and premature mortality in this disease.