{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T01:57:44Z","timestamp":1792202264463,"version":"4.4.0"},"reference-count":73,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"abstract":"<ns4:p>Autoimmune lymphoproliferative syndrome (ALPS) is an inherited syndrome characterized by abnormal lymphocyte survival caused by failure of apoptotic mechanisms to maintain lymphocyte homeostasis. This failure leads to the clinical manifestations of non-infectious and non-malignant lymphadenopathy, splenomegaly, and autoimmune pathology, most commonly, autoimmune cytopenias. Since ALPS was first characterized in the early 1990s, insights in disease biology have improved both diagnosis and management of this syndrome. Sirolimus is the best-studied and most effective corticosteroid-sparing therapy for ALPS and should be considered first-line for patients in need of chronic treatment. This review highlights practical clinical considerations for the diagnosis and management of ALPS. Further studies could reveal new proteins and regulatory pathways that are critical for lymphocyte activation and apoptosis.<\/ns4:p>","DOI":"10.12688\/f1000research.11545.1","type":"journal-article","created":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T06:55:04Z","timestamp":1509519304000},"page":"1928","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":94,"title":["Autoimmune lymphoproliferative syndrome: more than a FAScinating disease"],"prefix":"10.12688","volume":"6","author":[{"given":"Karen","family":"Bride","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7373-8987","authenticated-orcid":false,"given":"David","family":"Teachey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2560","published-online":{"date-parts":[[2017,11,1]]},"reference":[{"key":"ref-1","doi-asserted-by":"publisher","first-page":"261-72","DOI":"10.1007\/s40272-016-0175-3","article-title":"Optimal Management of Autoimmune Lymphoproliferative Syndrome in Children.","volume":"18","author":"L George","year":"2016","journal-title":"Paediatr Drugs."},{"key":"ref-2","doi-asserted-by":"publisher","first-page":"e35-40","DOI":"10.1182\/blood-2010-04-280347","article-title":"Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop.","volume":"116","author":"J Oliveira","year":"2010","journal-title":"Blood."},{"key":"ref-3","first-page":"233-5","article-title":"Autoimmune lymphoproliferative syndrome: new approaches to diagnosis and management.","volume":"9","author":"D Teachey","year":"2011","journal-title":"Clin Adv Hematol Oncol."},{"key":"ref-4","doi-asserted-by":"publisher","first-page":"1-8","DOI":"10.1097\/MOP.0b013e32834ea739","article-title":"New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndrome.","volume":"24","author":"D Teachey","year":"2012","journal-title":"Curr Opin Pediatr."},{"key":"ref-5","doi-asserted-by":"publisher","first-page":"594-9","DOI":"10.1007\/s10875-014-0038-z","article-title":"Elevated double negative T cells in pediatric autoimmunity.","volume":"34","author":"J Tarbox","year":"2014","journal-title":"J Clin Immunol."},{"key":"ref-6","doi-asserted-by":"publisher","first-page":"205-16","DOI":"10.1111\/j.1365-2141.2009.07991.x","article-title":"Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS).","volume":"148","author":"D Teachey","year":"2010","journal-title":"Br J Haematol."},{"key":"ref-7","doi-asserted-by":"publisher","first-page":"e52-e56","DOI":"10.3324\/haematol.2016.153411","article-title":"Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome.","volume":"102","author":"C Klemann","year":"2017","journal-title":"Haematologica."},{"key":"ref-8","doi-asserted-by":"publisher","first-page":"1037-42","DOI":"10.1182\/blood-2016-04-712612","article-title":"CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.","volume":"128","author":"B Lo","year":"2016","journal-title":"Blood."},{"key":"ref-9","doi-asserted-by":"publisher","first-page":"436-40","DOI":"10.1126\/science.aaa1663","article-title":"AUTOIMMUNE DISEASE. 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Allende, Immunology Department, Hospital 12 de Octubre, Madrid, Spain, 01 Nov 2017, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/6-1928\/v1#referee-response-27481","order":1,"name":"referee-response-27481","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.5256\/f1000research.12471.r27484, Ugo Ramenghi, University of Torino, Torino, Italy, 01 Nov 2017, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/6-1928\/v1#referee-response-27484","order":2,"name":"referee-response-27484","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"This manuscript was supported by funding from Cures within Reach and the Barbara Brodsky Foundation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.","order":3,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.Data associated with the article are available under the terms of the Creative Commons Zero \"No rights reserved\" data waiver (CC0 1.0 Public domain dedication).","order":0,"name":"copyright-info","label":"Copyright"}]}}