Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Sensitivity to radiation and alkylating agent of peripheral lymphocytes and fibroblasts in a Hoyeraal-Hreidarsson syndrome patient.
Pediatric Hematology and Oncology
Publication types: Case Reports ; Journal Article Publication Status: ppublish
Hoyeraal-Hreidarsson syndrome (HHS) is a severe infantile variant of X-linked dyskeratosis congenita (DC). The authors report evidence of increased in vitro sensitivity to radiation and alkylating agent in circulating lymphocytes and fibroblasts obtained from a 7-year-old boy with HHS. A major telomere shortening was also found (3 kb) as compared to healthy donors (10 kb). The standard treatments, chemotherapy regimens, and radiation therapy were not possible. The data suggest that conditioning regimens including TBI should not be used when a bone marrow transplantation procedure is planned in these patients.
Abnormalities, Multiple/drug therapy, Abnormalities, Multiple/genetics, Alkylating Agents/pharmacology, Cell Survival/drug effects, Cell Survival/radiation effects, Child, Chromosomes, Human, X, Fibroblasts/drug effects, Fibroblasts/radiation effects, Genetic Linkage, Humans, Lymphocytes/drug effects, Lymphocytes/radiation effects, Male, Radiation Tolerance, Syndrome
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