Dyskeratosis CongenitaHematopoietic Stem Cell TransplantationHumansImmunosuppressionTelomere骨髓疾病角化不良先天性造血干细胞移植Excerpt DISEASE CHARACTERISTICS: Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper...
2) dyskeratosis 角化不良 1. A case of dyskeratosis congenita is reported and the family pedigree is also analyzed. 报告1例先天性角化不良并附家系调查报告。3) dyskeratotic 角化不良的4) dyskeratoma 角化不良瘤5) parakeratosis [,pærə,kerə'təusis] 角化不全症 1. In the ...
Excerpt DISEASE CHARACTERISTICS: Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia. However, the classic triad may not be present in all individuals. ...
In a 28-year-old man with dyskeratosis congenita a severe aplastic anemia was found, which together with the dermatologic symptoms and further hematologic ... R Korz,V Wienert,H Knechten - 《Der Hautarzt》 被引量: 0发表: 1982年 Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita...
Points out the importance of hematologic and immunologic alterations in defining the course and prognosis of dyskeratosis congenita (DC), a predominantly X-linked multisystemic disorder. Clinical course of the disease; Symptoms; Hematologic disturbances; Immunologic data epidemiology and mode of inheritance...
Telomere dysfunction and tumor suppression responses in dyskeratosis congenita: balancing cancer and tissue renewal impairment. Ageing Res Rev, 12:642-652.Hartwig,F.P. and Collares,T. (2013) Telomere dysfunction and tumor suppression responses in dyskeratosis congenita: balancing cancer and tissue ...
Dyskeratosis congenita is a rare inherited disease with classic cutaneous symptoms, sometimes accompanied with more severe extracutaneous manifestations such as bone marrow failure, which can be lethal. Eltrombopag is an orally available thrombopoietin receptor agonist in clinical use for increasing platelet...
The proband with the homozygous WRAP53 Arg298Trp mutation had short telomere, classic clinical symptoms, and no response to danazol, glucocorticoid or cyclosporin A. Thus, we reported for the first time that a unique homozygous WRAP53 mutation site underlies the development of DC....
( 2002 ) A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita . Pediatric Hematology and Oncology , 19 , 413 – 419 .Hiramatsu H., Fujii T., Kitoh T., Sawada M., Osaka M., Koami K., Irino T., Miyajima T., Ito M., Sugiyama T....
Despite harboring the same mutation in the DKC1 gene, one patient had significantly milder hematological symptoms than the other, indicating that there may be other factors that determine the severity of DC.Pediatric Hematology & Oncology