title: Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience.
abstract: 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 review of 7 DKC patients diagnosed at the Children's Hospital of Philadelphia. In parallel, we reviewed previously reported immunologic findings in DKC patients.
  
  
  RESULTS
  Immunologic abnormalities (lymphopenia, low B-cell numbers, hypogammaglobulinemia, and decreased T-cell function) were the most frequent laboratory findings at initial presentation, preceding the development of significant anemia or thrombocytopenia. Recurrent sinopulmonary or opportunistic infections were present in 6/7 patients. Infant-onset patients had more severe immunologic and somatic features (particularly severe enteropathy).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Allergy and Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Jyonouchi@email.chop.edu
authors.forename: S
authors.initials: S
authors.lastname: Jyonouchi
authors.forename: L
authors.initials: L
authors.lastname: Forbes
authors.forename: E
authors.initials: E
authors.lastname: Ruchelli
authors.forename: K E
authors.initials: KE
authors.lastname: Sullivan
mesh_terms: D000293:Adolescent; D000906:Antibodies / Q000097:blood; D002675:Child, Preschool; D019871:Dyskeratosis Congenita / Q000276:immunology* / Q000401:mortality / Q000503:physiopathology*; D005260:Female; D006776:Hospitals, Pediatric; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000276:immunology / Q000401:mortality / Q000503:physiopathology*; D007223:Infant; D008297:Male; D009154:Mutation; D015143:Philadelphia; D013601:T-Lymphocytes / Q000276:immunology; D019098:Telomerase; D016615:Telomere
chemical_list: D000906:Antibodies; D019098:Telomerase