A pernicious anaemia-like picture of the peripheral blood associated with congenital abnormalities was first described by Fanconi (1927) in three brothers. Since then a similar syndrome has been reported from many parts of the world under the title of Fanconi's aplastic anaemia. Gmyrek and Syllm-Rapoport (1964) have reviewed 152 cases in the literature in considerable detail. Bloom et al. (1966...

Biallelic mutations in Fanconi anemia complementation group genes disrupt DNA repair and result in the complex Fanconi anemia phenotype. In addition, germ line mutations in the BRCA2/FANCD1 Fanconi anemia complementation group gene have also been implicated in predisposition to a number of cancers including pancreatic cancer. The recent identification of FANCC and FANCG mutations in resected pa...

Fanconi anemia (FA) is caused by mutations in 13 Fanc genes and renders cells hypersensitive to DNA interstrand cross-linking (ICL) agents. A central event in the FA pathway is mono-ubiquitylation of the FANCI-FANCD2 (ID) protein complex. Here, we characterize a previously unrecognized nuclease, Fanconi anemia-associated nuclease 1 (FAN1), that promotes ICL repair in a manner strictly dependent...

Key-words Name of the disease Definition Differential diagnosis Frequency Clinical description Treatment Etiology Genetic counselling Prenatal diagnosis Unresolved questions References

of CMV reactivation were reported by other groups using fludarabine in combination with busulphan, melphalan, or low-dose total body irradiation (TBI) (21%-42%). 5,6 The median time of onset of CMV infection was also beyond 45 days in all these studies. The only other regimen associated with a higher and earlier incidence of CMV infection has been a combination of fludarabine and antilymphocyte...

Fanconi anemia is an autosomal recessive disease characterized by a high risk of developing bone marrow (BM) failure and acute myelogenous leukemia. We studied growth of hematopoietic progenitor cells in long-term BM culture (LTBMC) in 8 persons with Fanconi anemia and BM failure. Although LTBMC were initiated with very few BM cells, an adherent layer formed in cultures from 7 persons. In these...