Autoimmune lymphoproliferative syndrome historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
Historical Perspective
- Autoimmune Lymphoproliferative Syndrome was first discovered by Canale and Smith, in 1967.Five patients were reported with lymphadenopathy, cytopenia and splenomegaly.[1] [2]
- The syndrome was initially named as Canale-Smith Syndrome.
- In 1992, a mutation of lpr(lymphoproliferation phenotype) and gld(generalized lymphoproliferative disease phenotype), a human equivalent of murine disease is reported.
- In 1995, association between inborn mutation of Fas gene and the development of Autoimmune lymphoproliferative syndrome was discovered.
- In 2003, new mutation in Fas Ligand (FasL) gene mutation and caspase 8 or 10 gene mutations.
Landmark Events in the Development of Treatment Strategies
- Heterozygous FasL gene mutation is detected causing Autoimmune Lymphoproliferative Syndrome type 1b.
Impact on Cultural History
Famous Cases
The following are a few famous cases of [disease name]:
References
- ↑ Ören, Hale; Özkal, Sermin; Gülen, Hüseyin; Duman, Murat; Uçar, Canan; Atabay, Berna; Yılmaz, Şebnem; Kargı, Aydanur; İrken, Gülersu (2002). "Autoimmune lymphoproliferative syndrome: report of two cases and review of the literature". Annals of Hematology. 81 (11): 651–653. doi:10.1007/s00277-002-0537-5. ISSN 0939-5555.
- ↑ Jackson, Christine E.; Fischer, Roxanne E.; Hsu, Amy P.; Anderson, Stacie M.; Choi, Youngnim; Wang, Jin; Dale, Janet K.; Fleisher, Thomas A.; Middelton, Lindsay A.; Sneller, Michael C.; Lenardo, Michael J.; Straus, Stephen E.; Puck, Jennifer M. (1999). "Autoimmune Lymphoproliferative Syndrome with Defective Fas: Genotype Influences Penetrance". The American Journal of Human Genetics. 64 (4): 1002–1014. doi:10.1086/302333. ISSN 0002-9297.