title: [Dyskeratosis congenita. Genetic hematologic-immunologic systemic disease with pancytopenia].
abstract: Dyskeratosis congenita (DC) is a rare, predominantly X-linked multisystemic disorder. It shows a wide spectrum of clinical manifestations and typically presents with dermatological symptoms within the first decade. This review of the literature points out the importance of haematological and immunological changes defining course and prognosis of disease. Pancytopenia, humoral and cellular disorders of immune function may lead to severe infections, which present the main cause of death. The pathogenesis of DC is still unclear, no causative therapy is available. Recent reports suggest a beneficial effect of haemato-poietic growth factors (G-CSF, GM-CSF) in patients with DC and neutropenia.
authors.affiliation: Dr. v. Haunersches Kinderspital, Klinikum Innenstadt, Ludwig-Maximilians-Universität.
authors.forename: B
authors.initials: B
authors.lastname: Sölder
authors.forename: M
authors.initials: M
authors.lastname: Weiss
authors.forename: A
authors.initials: A
authors.lastname: Jäger
authors.forename: B H
authors.initials: BH
authors.lastname: Belohradsky
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology; D007223:Infant; D008297:Male; D010198:Pancytopenia / Q000235:genetics* / Q000276:immunology; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012871:Skin Diseases / Q000235:genetics* / Q000276:immunology; D013577:Syndrome; D014960:X Chromosome
vernacular_title: Dyskeratosis congenita. Genetische hämatologisch-immunologische Systemerkrankung mit Panzytopenie.