Autoimmune lymphoproliferative syndrome historical perspective: Difference between revisions
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* [[Autoimmune]] [[Lymphoproliferative]] [[Syndrome]] was first discovered by Canale and Smith, in 1967.Five [[patients]] were reported with [[lymphadenopathy]], [[cytopenia]] and [[splenomegaly]].<ref name="ÖrenÖzkal2002">{{cite journal|last1=Ören|first1=Hale|last2=Özkal|first2=Sermin|last3=Gülen|first3=Hüseyin|last4=Duman|first4=Murat|last5=Uçar|first5=Canan|last6=Atabay|first6=Berna|last7=Yılmaz|first7=Şebnem|last8=Kargı|first8=Aydanur|last9=İrken|first9=Gülersu|title=Autoimmune lymphoproliferative syndrome: report of two cases and review of the literature|journal=Annals of Hematology|volume=81|issue=11|year=2002|pages=651–653|issn=0939-5555|doi=10.1007/s00277-002-0537-5}}</ref> <ref name="JacksonFischer1999">{{cite journal|last1=Jackson|first1=Christine E.|last2=Fischer|first2=Roxanne E.|last3=Hsu|first3=Amy P.|last4=Anderson|first4=Stacie M.|last5=Choi|first5=Youngnim|last6=Wang|first6=Jin|last7=Dale|first7=Janet K.|last8=Fleisher|first8=Thomas A.|last9=Middelton|first9=Lindsay A.|last10=Sneller|first10=Michael C.|last11=Lenardo|first11=Michael J.|last12=Straus|first12=Stephen E.|last13=Puck|first13=Jennifer M.|title=Autoimmune Lymphoproliferative Syndrome with Defective Fas: Genotype Influences Penetrance|journal=The American Journal of Human Genetics|volume=64|issue=4|year=1999|pages=1002–1014|issn=00029297|doi=10.1086/302333}}</ref> | * [[Autoimmune]] [[Lymphoproliferative]] [[Syndrome]] was first discovered by Canale and Smith, in 1967.Five [[patients]] were reported with [[lymphadenopathy]], [[cytopenia]] and [[splenomegaly]].<ref name="ÖrenÖzkal2002">{{cite journal|last1=Ören|first1=Hale|last2=Özkal|first2=Sermin|last3=Gülen|first3=Hüseyin|last4=Duman|first4=Murat|last5=Uçar|first5=Canan|last6=Atabay|first6=Berna|last7=Yılmaz|first7=Şebnem|last8=Kargı|first8=Aydanur|last9=İrken|first9=Gülersu|title=Autoimmune lymphoproliferative syndrome: report of two cases and review of the literature|journal=Annals of Hematology|volume=81|issue=11|year=2002|pages=651–653|issn=0939-5555|doi=10.1007/s00277-002-0537-5}}</ref> <ref name="JacksonFischer1999">{{cite journal|last1=Jackson|first1=Christine E.|last2=Fischer|first2=Roxanne E.|last3=Hsu|first3=Amy P.|last4=Anderson|first4=Stacie M.|last5=Choi|first5=Youngnim|last6=Wang|first6=Jin|last7=Dale|first7=Janet K.|last8=Fleisher|first8=Thomas A.|last9=Middelton|first9=Lindsay A.|last10=Sneller|first10=Michael C.|last11=Lenardo|first11=Michael J.|last12=Straus|first12=Stephen E.|last13=Puck|first13=Jennifer M.|title=Autoimmune Lymphoproliferative Syndrome with Defective Fas: Genotype Influences Penetrance|journal=The American Journal of Human Genetics|volume=64|issue=4|year=1999|pages=1002–1014|issn=00029297|doi=10.1086/302333}}</ref> | ||
* The [[syndrome]] was initially named as Canale-Smith [[Syndrome]]. | * 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 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 1995, association between inborn [[mutation]] of [[Fas]] [[gene]] and the [[development]] of [[Autoimmune]] [[lymphoproliferative]] [[syndrome]] was discovered. | ||
Revision as of 03:33, 28 June 2021
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Autoimmune lymphoproliferative syndrome Microchapters |
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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
- 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.