Dyskeratosis congenita: An inherited, haematological-immunological disease associated with pancytopenia;Dyskeratosis congenita. Genetische hamatologisch-immunologische Systemerkrankung mit Panzytopenie

Klinische Padiatrie

Volumn 208, Issue 6, 1996, Pages 344-349

  Sölder, Brigitte ^a   Weiß, Michael ^a   Jäger, Andrea ^a   Belohradsky, Bernd H ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

bone marrow failure; dyskeratosis congenita; immunodeficiency; pancytopenia

Indexed keywords

GRANULOCYTE COLONY STIMULATING FACTOR; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR;

ARTICLE; CELLULAR IMMUNITY; CHILD; DYSKERATOSIS CONGENITA; HUMAN; HUMORAL IMMUNITY; NEUTROPENIA; PANCYTOPENIA; FEMALE; GENETICS; IMMUNE DEFICIENCY; IMMUNOLOGY; INFANT; MALE; PRESCHOOL CHILD; REVIEW; SEX CHROMOSOME ABERRATION; SKIN DISEASE; SYNDROME; X CHROMOSOME;

CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; PANCYTOPENIA; SEX CHROMOSOME ABERRATIONS; SKIN DISEASES; SYNDROME; X CHROMOSOME;

EID: 0030280182     PISSN: 03008630     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1046495     Document Type: Article

References (50)

1. Alter, B. P. u. Mitarb.: Effect of stem cell factor on in vitro erythropoiesis in patients with bone marrow failure syndromes. Blood 80 (1992) 3000-3007
2. Alter, B. P., N. S. Young: The bone marrow failure syndromes. In: .Nathan, D. G., F. A. Oski [eds.] Hematology of infancy and childhood, 4th ed. (Saunders: Philadelphia (1993) 249-252)
3. Arngrimsson, R. u. Mitarb.: Dyskeratosis congenita: three additional families show a linkage to a locus in Xq28. J. Med. Genet. 30 (1993) 618-619
4. Berthou, Ch. u. Mitarb.: Late vascular complications after bone marrow transplantation for dyskeratosis congenita. Br. J. Haematol. 79 (1991) 335-344
5. Bundino, S. u. Mitarb.: Dyskeratosis congenita with epidermodysplasia verruciformis of Lewandowsky and Lutz. Dermatologica 156 (1978) 15-23
6. Burkhardt, D. u. Mitarb.: Dyskeratosis congenita bei monozygoten Zwillingen. Der Hautarzt 45 (1994) 249-255
7. Cole, H. N. u. Mitarb.: Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis oris. Arch. Dermatol. Syphilol. 21 (1930) 71-95
8. Colvin, B. T. u. Mitarb.: Haemopoietic progenitor cells in dyskeratosis congenita. Br. J. Haematol. 56 (1984) 513-517
9. Connor, J. M., R. H. Teague: Dyskeratosis congenita. Report of a large kindred. Br. J. Dermatol. 105 (1981) 321-325
10. Connor, J. M. u. Mitarb.: Assignment of the gene for dyskeratosis congenita to Xq28. Hum. Genet. 72 (1986) 348-351
11. Conter, V. u. Mitarb.: Bone marrow transplantation for aplastic anemia associated with dyskeratosis congenita. Amer. J. Pediatr. Hematol. Oncol. 10 (1988) 99-102
12. De Boeck, K. u. Mitarb.: Thrombocytopenia: First symptom in a patient with dyskeratosis congenita. Pediatrics 67 (1981) 898-903
13. Dokal, I. u. Mitarb.: Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements. Blood 80 (1992) 3090-3096
14. Dong, F. u. Mitarb.: Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. N. Engl. J. Med. 333 (1995) 487-493
15. Drachtman, R. A., B. P. Alter: Dyskeratosis congenita: clinical and genetic heterogeneity. Amer. J. Pediatr. Hematol. Oncol. 14 (1992) 297-304
16. Engmann, M. F.: Congenital atrophy of the skin with reticular pigmentation. JAMA 105 (1935) 1252-1256
17. Forni, G. L. u. Mitarb.: Dyskeratosis congenita: Unusual presenting features within a kindred. Pediatr. Hematol. Oncol. 10 (1993) 145-149
18. Fudenberg, H. H. u. Mitarb.: Active and suppressor T cells: diminution in a patient with dyskeratosis congenita and in first-degree relatives. Gerontol. 25 (1979) 231-237
19. Giannetti A., S. Seidenari: Deficit of cell-mediated immunity, chromosomal alterations and defective DNA repair in a case of dyskeratosis congenita. Dermatol. 160 (1980) 113-117
20. Goldman, J.: Peripheral blood stem cells for allografting. Blood 85 (1995) 1413-1415
21. Gutman, A. u. Mitarb.: X-linked dyskeratosis congenita with pancytopenia. Arch. Dermatol. 114 (1978) 1667-1671
22. Hanada, T. u. Mitarb.: Bone marrow failure in dyskeratosis congenita. Scand. J. Haematol. 32 (1984) 496-500
23. Haneke, E. u. Mitarb.: Thymopoietin therapy of the susceptibility to infections in dyskeratosis congenita. Arch. Dermatol. Res. 275 (1983) 264-265
24. Kawaguchi, K. u. Mitarb.: Dyskeratosis congenita (Zinsser-Cole-Engman syndrome). Virch. Arch. Pathol. Anat. 417 (1990) 247-253
25. Kehrer, H. u. Mitarb.: Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita. Clin. Genet. 41 (1992) 129-134
26. Lee, B. W. u. Mitarb.: T cell immunodeficiency in dyskeratosis congenita. Arch. Dis. Childh. 67 (1992) 524-526
27. Lemarchand-Venencie, F. u. Mitarb.: Syndrome de Zinsser-Cole-Engman. Ann. Dermatol. Venerol. 109 (1982) 783-784
28. Ling, N. S. u. Mitarb.: Dyskeratosis congenita in a girl simulating chronic graft-vs-host disease. Arch. Dermatol. 121 (1985) 1424-1428
29. Mahmoud, H. K. u. Mitarb.: Marrow transplantation for pancytopenia in dyskeratosis congenita. Blut 51 (1985) 57-60
30. Marsh, J. C. W. u. Mitarb.: "Stem cell" origin of the hematopoietic defect in dyskeratosis congenita. Blood 79 (1992) 3138-314
31. Melamed, J. u. Mitarb.: Impairment of cell-mediated immunity in ectodermal dysplasia with aplastic anemia. Helv. paediat. Acta 33 (1978) 169-176
32. Oehler, L. u. Mitarb.: Effective stimulation of neutropoiesis with rh G-CSF in dyskeratosis congenita a case report. Ann. Hematol. 69 (1995) 325-327
33. Ogden, G. R. u. Mitarb.: Cytokeratin profiles in dyskeratosis congenita: an immunocytochemical investigation of lingual hyperkeratosis. Oral. Pathol. 21 (1992) 353-357
34. Ortega, J. A. u. Mitarb.: Congenital dyskeratosis. Am. J. Dis. Child. 124 (1972) 701-704
35. Paul, S. R. u. Mitarb.: Interstitial pulmonary disease associated with dyskeratosis congenita. Amer. J. Pediatr. Hematol. Oncol. 14 (1992) 89-92
36. Phillips, R. J. u. Mitarb.: Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation. Br. J. Dermatol. 127 (1992) 278-280
37. Pritchard, S. L., A. K. Junker: Positive response to granulocyte-colony-stimulating factor in dyskeratosis congenita before matched unrelated bone marrow transplantation. Amer. J. Pediatr. Hematol. Oncol. 16 (1994) 173-176
38. Putterman, C. u. Mitarb.: Treatment of the hematological manifestations of dyskeratosis congenita. Ann. Hematol. 66 (1993) 209-212
39. Rallier, M. R. u. Mitarb.: Sur un cas de Syndrome de Zinsser-Engman-Cole. Bull. Soc. Fr. Dermatol. Syphiligr. 73 (1966) 383-386
40. Russo, C. L. u. Mitarb.: Treatment of neutropenia associated with dyskeratosis congenita with granulocyte-macrophage colony stimulating factor. Lancet 336 (1990) 751-752
41. Schamfuß, S. u. Mitarb.: Zinsser-Engman-Cole Syndrom bei 2 Brüdern. Dermatol. Monatsschr. 172 (1986) 201-208
42. Schneider, A. u. Mitarb.: Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from Fanconi anaemia. Eur. J. Pediatr. 148 (1988) 37-39
43. Sirinavin, C., A. A. Trowbridge: Dyskeratosis congenita: clinical features and genetic aspects. J. Med. Genet. 12 (1975) 339-354
44. Steier, W. u. Mitarb.: Dyskeratosis congenita: Relationship to Fanconi's anemia. Blood 39 (1972) 510-521
45. Tchou, P. K. T. Kohn: Dyskeratosis congenita: an autosomal dominant disorder. J. Amer. Acad. Dermatol. 6 (1982) 1034-1039
46. Verra, F. u. Mitarb.: Bronchoalveolar disease in dyskeratosis congenita. Eur. Respir. J. 5 (1992) 497-499
47. Wald, C., H. Diner: Dyskeratosis congenita with associated periodontal disease. Oral. Surg. 37 (1974) 736-744
48. Wiedermann, H. P. u. Mitarb.: Progressive immune failure in dyskeratosis congenita. Arch. Intern. Med. 144 (1984) 397-399
49. Womer, R. u. Mitarb.: Dyskeratosis congenita: Two examples of this multisystem disorder. Pediatrics 71 (1983) 603-609
50. Zinsser, F.: Atrophia cutis reticularis cum pigmentatione, dystrophia unguium et leukoplakia oris. Ikonogr. Dermatol., Kyoto (1906) 219-223