Autoimmune lymphoproliferative syndrome historical perspective: Difference between revisions
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* In 1995, FAS [[gene]] [[mutation]] in [[ALPS]] was discovered.<ref name="FisherRosenberg1995">{{cite journal|last1=Fisher|first1=Galen H|last2=Rosenberg|first2=Fredric J|last3=Straus|first3=Stephen E|last4=Dale|first4=Janet K|last5=Middelton|first5=Lindsay A|last6=Lin|first6=Albert Y|last7=Strober|first7=Warren|last8=Lenardo|first8=Michael J|last9=Puck|first9=Jennifer M|title=Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome|journal=Cell|volume=81|issue=6|year=1995|pages=935–946|issn=00928674|doi=10.1016/0092-8674(95)90013-6}}</ref> | * In 1995, FAS [[gene]] [[mutation]] in [[ALPS]] was discovered.<ref name="FisherRosenberg1995">{{cite journal|last1=Fisher|first1=Galen H|last2=Rosenberg|first2=Fredric J|last3=Straus|first3=Stephen E|last4=Dale|first4=Janet K|last5=Middelton|first5=Lindsay A|last6=Lin|first6=Albert Y|last7=Strober|first7=Warren|last8=Lenardo|first8=Michael J|last9=Puck|first9=Jennifer M|title=Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome|journal=Cell|volume=81|issue=6|year=1995|pages=935–946|issn=00928674|doi=10.1016/0092-8674(95)90013-6}}</ref> | ||
* In 2009, an international workshop held at NIH in Uthe United States, announced revised diagnostic criteria and classification of ALPS.<ref name="OliveiraBleesing2010">{{cite journal|last1=Oliveira|first1=Joao B.|last2=Bleesing|first2=Jack J.|last3=Dianzani|first3=Umberto|last4=Fleisher|first4=Thomas A.|last5=Jaffe|first5=Elaine S.|last6=Lenardo|first6=Michael J.|last7=Rieux-Laucat|first7=Frederic|last8=Siegel|first8=Richard M.|last9=Su|first9=Helen C.|last10=Teachey|first10=David T.|last11=Rao|first11=V. Koneti|title=Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop|journal=Blood|volume=116|issue=14|year=2010|pages=e35–e40|issn=0006-4971|doi=10.1182/blood-2010-04-280347}}</ref> | * In 2009, an international workshop held at NIH in Uthe United States, announced revised diagnostic criteria and classification of ALPS.<ref name="OliveiraBleesing2010">{{cite journal|last1=Oliveira|first1=Joao B.|last2=Bleesing|first2=Jack J.|last3=Dianzani|first3=Umberto|last4=Fleisher|first4=Thomas A.|last5=Jaffe|first5=Elaine S.|last6=Lenardo|first6=Michael J.|last7=Rieux-Laucat|first7=Frederic|last8=Siegel|first8=Richard M.|last9=Su|first9=Helen C.|last10=Teachey|first10=David T.|last11=Rao|first11=V. Koneti|title=Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop|journal=Blood|volume=116|issue=14|year=2010|pages=e35–e40|issn=0006-4971|doi=10.1182/blood-2010-04-280347}}</ref> | ||
* 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 G.|last17=Siepermann|first17=Kathrin|last18=Voelker|first18=Thomas|last19=Schuster|first19=Volker|last20=Goldacker|first20=Sigune|last21=Schwarz|first21=Klaus|last22=Speckmann|first22=Carsten|last23=Picard|first23=Capucine|last24=Fischer|first24=Alain|last25=Rieux-Laucat|first25=Frederic|last26=Ehl|first26=Stephan|last27=Rensing-Ehl|first27=Anne|last28=Neven|first28=Benedicte|title=Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome|journal=Haematologica|volume=102|issue=2|year=2017|pages=e52–e56|issn=0390-6078|doi=10.3324/haematol.2016.153411}}</ref> | * In 2017, [[mTOR]] [[inhibitor]] found to be an effective [[treatment]] for [[treatment]] refractory [[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 G.|last17=Siepermann|first17=Kathrin|last18=Voelker|first18=Thomas|last19=Schuster|first19=Volker|last20=Goldacker|first20=Sigune|last21=Schwarz|first21=Klaus|last22=Speckmann|first22=Carsten|last23=Picard|first23=Capucine|last24=Fischer|first24=Alain|last25=Rieux-Laucat|first25=Frederic|last26=Ehl|first26=Stephan|last27=Rensing-Ehl|first27=Anne|last28=Neven|first28=Benedicte|title=Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome|journal=Haematologica|volume=102|issue=2|year=2017|pages=e52–e56|issn=0390-6078|doi=10.3324/haematol.2016.153411}}</ref> | ||
===Impact on Cultural History=== | ===Impact on Cultural History=== | ||
Revision as of 20:39, 28 June 2021
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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 treatment refractory cytopenias related to ALPS.[5]
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.
- ↑ Klemann, Christian; Esquivel, Myrian; Magerus-Chatinet, Aude; Lorenz, Myriam R.; Fuchs, Ilka; Neveux, Nathalie; Castelle, Martin; Rohr, Jan; da Cunha, Claudia Bettoni; Ebinger, Martin; Kobbe, Robin; Kremens, Bernhard; Kollert, Florian; Gambineri, Eleonora; Lehmberg, Kai; Seidel, Markus G.; Siepermann, Kathrin; Voelker, Thomas; Schuster, Volker; Goldacker, Sigune; Schwarz, Klaus; Speckmann, Carsten; Picard, Capucine; Fischer, Alain; Rieux-Laucat, Frederic; Ehl, Stephan; Rensing-Ehl, Anne; Neven, Benedicte (2017). "Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome". Haematologica. 102 (2): e52–e56. doi:10.3324/haematol.2016.153411. ISSN 0390-6078.