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Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis

, : Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis. Journal of Pediatric Hematology/Oncology 30(8): 621-624

Familial hemophagocytic lymphohistiocytosis is a rare disorder characterized by lethal primary immunodeficiency associated with hypercytokinemia and a concomitant defect in natural killer cell cytotoxicity. We report a fatal case of familial hemophagocytic lymphohistiocytosis homozygous caused by a novel nonsense mutation of the perforin gene. Homozygosity was established to be the result of uniparental disomy of the maternal chromosome 10. Uniparental disomy increases the risk of autosomal recessive disease.


PMID: 18799942

DOI: 10.1097/MPH.0b013e31817580fd

Other references

Polaco Ramos Oscar Jorge, 1981: Fossil remains of Glossotherium and Eremotherium (Edentata) in Mexico. Anais do Congresso Latino-Americano de Paleontologia 2, Vol

Shu, Y.; Zhang, Y.; Zeng, H.; Zhang, Y.; Wang, J., 2017: Effects of Cry1Ab Bt maize straw return on bacterial community of earthworm Eisenia fetida. The eco-toxicological effects of Bacillus thuringiensis (Bt) maize on earthworm life-history traits were widely studied and the results were controversial, while their effects on earthworm bacterial community have been rarely studied. Here, effect...

Albeaux-Fernet, M.; Bellot, L.; Canet, L.; Deribreux, J.; Gelinet, M., 1970: Primary hypoaldosteronism. L'annee Endocrinologique 22: 25-32

Howell B.F., 1956: New Permian sponges from Western Australia. "All these sponges are from beds of Artinskian, lower Permian age, and all of them are believed to be siliceous sponges, although, since the spicules have not been preserved in any of our specimens, their generic relationships have had to be...

Jaeger, M., M.; Haque, E.; Sultana, P.; Bruggers, R., L., 2007: Daytime cover, diet and space-use of golden jackals (Canis aureus) in agro-ecosystems of Bangladesh. Golden jackals are locally common in Bangladesh despite intensive cultivation and high human densities. We studied the relative importance of seasonal flooding, rodent prey-base, and daytime cover on the occurrence of golden jackals in the two maj...

Gupta A.; Bastani B.; Chardin P.; Hruska K., 1991: Localization of ral a small m r gtp binding protein to the plasma membrane of collecting duct cells. Journal of the American Society of Nephrology 2(3): 453

Viale, G.; Roncalli, M.; Grimelius, L.; Graziani, D.; Wilander, E.; Johansson, H.; Bergholm, U.; Coggi, G., 1995: Prognostic value of Bcl-2 immunoreactivity in Medullary Thyroid Carcinoma. Bcl-2 expression has been evaluated immunocytochemically in a series of 33 medullary thyroid carcinomas (MTC) with long-term (mean, 10.3 years) follow-up. Twenty-six of 33 cases showed intense bcl-2 immunoreactivity in more than 25% neoplastic cel...

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Kusnirenko, M.D.; Batyr, R.A.; Kuzelenko, V.G., 1965: Water regime and drought resistance of some plum varieties. The total, osmotically bound and colloidally bound water, the state of hydration of the colloids, the osmotic pressure and the suction force of the leaves were determined for 6 plum cultivars in 1961-62. Three groups of varieties were established:...

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