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 1990, ALPS was first characterized
- 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
- In 1995, FAS gene mutation in ALPS was discovered.[3]
- In 2009, an international workshop held at NIH in Uthe United States, announced revised diagnostic criteria and classification of ALPS.[4]
- In 2017, mTOR inhibitor found to be an effective treatment for cytopenias related to ALPS.<ref name="KlemannEsquivel2017">{{cite journal|last1=Klemann|first1=Christian|last2=Esquivel|first2=Myrian|last3=Magerus-Chatinet|first3=Aude|last4=Lorenz|first4=Myriam R.|last5=Fuchs|first5=Ilka|last6=Neveux|first6=Nathalie|last7=Castelle|first7=Martin|last8=Rohr|first8=Jan|last9=da Cunha|first9=Claudia Bettoni|last10=Ebinger|first10=Martin|last11=Kobbe|first11=Robin|last12=Kremens|first12=Bernhard|last13=Kollert|first13=Florian|last14=Gambineri|first14=Eleonora|last15=Lehmberg|first15=Kai|last16=Seidel|first16=Markus
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.
- ↑ Fisher, Galen H; Rosenberg, Fredric J; Straus, Stephen E; Dale, Janet K; Middelton, Lindsay A; Lin, Albert Y; Strober, Warren; Lenardo, Michael J; Puck, Jennifer M (1995). "Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome". Cell. 81 (6): 935–946. doi:10.1016/0092-8674(95)90013-6. ISSN 0092-8674.
- ↑ Oliveira, Joao B.; Bleesing, Jack J.; Dianzani, Umberto; Fleisher, Thomas A.; Jaffe, Elaine S.; Lenardo, Michael J.; Rieux-Laucat, Frederic; Siegel, Richard M.; Su, Helen C.; Teachey, David T.; Rao, V. Koneti (2010). "Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop". Blood. 116 (14): e35–e40. doi:10.1182/blood-2010-04-280347. ISSN 0006-4971.