Literature DB >> 7351274

Deficit of cell-mediated immunity, chromosomal alterations and defective DNA repair in a case of dyskeratosis congenita.

A Giannetti, S Seidenari.   

Abstract

A case of dyskeratosis congenita with depressed responsiveness to policlonal mitogens (PHA, Con-A, PKM) and negative skin tests (PPD, SK-SD, Candidin, Trichophytin) is reported. Chromatid breaks and reduction of the capacity of DNA repair were also present. The findings are discussed in relationship to the prognosis of dyskeratosis congenita.

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Year:  1980        PMID： 7351274     DOI： 10.1159/000250482

Source DB:  PubMed          Journal:  Dermatologica        ISSN： 0011-9075


  2 in total

1.  Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from Fanconi anaemia.

Authors:  A Schneider; U Mayer; E Gebhart; D Harms; J Gromball; U Glöckel; J D Beck
Journal:  Eur J Pediatr       Date:  1988-10       Impact factor: 3.183

2.  Dyskeratosis congenita (Zinsser-Cole-Engman syndrome). An autopsy case presenting with rectal carcinoma, non-cirrhotic portal hypertension, and Pneumocystis carinii pneumonia.

Authors:  K Kawaguchi; H Sakamaki; Y Onozawa; M Koike
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1990
  2 in total

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