Autoimmune lymphoproliferative syndrome historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sharmi Biswas, M.B.B.S
Overview
Autoimmune lymphoproliferative syndrome(ALPS) is a rare genetic disorder which predominantly manifests in early childhood. Due to the overlapping symptoms of lymphadenopathy, cytopenia, and splenomegaly; ALPS often is misdiagnosed or undiagnosed. A genetic test to detect FAS mutation is required to confirm the diagnosis. The majority of ALPS is curable by early adulthood. Patients with ALPS are at risk of developing lymphoma, therefore routine monitoring is required. Initially, ALPS was described as Canale-Smith syndrome. In 1990, it was described as ALPS. In 2009, guidelines for diagnosis and classification of ALPS were revised in an international workshop.
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]
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.