Autoimmune Lymphoproliferative Syndrome (ALPS): A Case Report
Keywords:Autoimmune Lymphoproliferative Syndrome, Autoimmunity; Pancytopenia
Background: Autoimmune lymphoproliferative syndrome (ALPS) is a rare disorder of the blood, estimated at around 500 cases worldwide. It is characterized by a dysregulation of T-cells in the immune system, and is caused by a defect in the process that mediates leukocyte apoptosis. This may result in an increased risk of lymphoma and autoimmune diseases.
Case: The author reports a case of an 11-year-old male who had been followed up since three years of age for recurrent cytopenias, occurring with intermittent breakouts of purpuric rash, nosebleeds, and prolonged infections.
Conclusion: A probable diagnosis was made through criteria based on the First International ALPS workshop of 2009. This includes the presence of circulating double-negative T cells, considered the laboratory marker unique for ALPS. The mainstay of treatment was prednisone, given at doses varying in proportion to the severity of immunocytopenia. osis.
2. Seif AE, Manno CS, Sheen C, Grupp SA, Teachey DT. Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-ins-titutional study. Blood. 2010 Mar 18;115(11):2142-5.
3. Stepensky P, Rensing-Ehl A, Gather R, Revel-Vilk S, Fischer U, Nabhani S, et al. Early-onset Evans syndrome, immunodeficiency, and premature immu-nosenescence associated with tripeptidyl-peptidase II deficiency. Blood. 2015 Jan 29;125(5):753-61.
4. Neven B, Magerus-Chatinet A, Florkin B, Gobert D, Lambotte O, De Somer L, et al. A survey of 90 patients with autoimmune lymphoproliferative syndro¬me related to TNFRSF6 mutation. Blood. 2011 Nov 3;118(18):4798-807.
5. Madkaikar M, Mhatre S, Gupta M, Ghosh K. Advances in autoimmune lym¬phoproliferative syndromes. Eur J Haematol. 2011 Jul;87(1):1-9.
6. Holzelova E, Vonarbourg C, Stolzenberg MC, Arkwright PD, Selz F, Prieur AM, et al. Autoimmune lymphoproliferative syndrome with somatic Fas mu¬
tations. N Engl J Med. 2004 Sep 30;351(14): 1409-18.
7. Bleesing JJ. Sorting out the causes of ALPS. J Pediatr. 2005 Nov;147(5):571-4.
8. Rossler J, Enders A, Lahr G, Heitger A, Winkler K, Fuchs H, et al. Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome. J Pediatr. 2005 Nov;147(5):691-4.
9. Dowdell KC, Niemela JE, Price S, Davis J, Hornung RL, Oliveira JB, et al. So¬matic FAS mutations are common in patients with genetically undefined au¬toimmune lymphoproliferative syndrome. Blood. 2010 Jun 24;115(25):5164-9.
10. Teachey DT, Seif AE, Grupp SA. Advances in the management and unders¬tanding of autoimmune lymphoproliferative syndrome (ALPS). Br J Haematol. 2010 Jan;148(2):205-16.
11. Wei A, Cowie T. Rituximab responsive immune thrombocytopenic purpura in an adult with underlying autoimmune lymphoproliferative syndrome due to a splice-site mutation (IVS7+2 T>C) affecting the Fas gene. Eur J Haematol. 2007 Oct;79(4):363-6.
12. Oliveira JB, Bleesing JJ, Dianzani U, Fleisher TA, Jaffe ES, Lenardo MJ, et al. Revised diagnostic criteria and classification for the autoimmune lymphopro-liferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood. 2010 Oct 7;116(14):e35-40.
13. Bleesing JJ. Autoimmune lymphoproliferative syndrome (ALPS). Curr Pharm Des. 2003;9(3):265-78.
14. Siegel RM, Frederiksen JK, Zacharias DA, Chan FK, Johnson M, Lynch D, et al. Fas preassociation required for apoptosis signaling and dominant inhibi¬tion by pathogenic mutations. Science. 2000 Jun 30;288(5475):2354-7.
15. Martin DA, Zheng L, Siegel RM, Huang B, Fisher GH, Wang J, et al. Defec¬tive CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. Proc Natl Acad Sci U S A. 1999 Apr 13;96(8):4552-7.
16. Yeh S, Li Z, Sen HN, Lim WK, Gill F, Perkins K, et al. Scleritis and multiple systemic autoimmune manifestations in chronic natural killer cell lympho¬cytosis associated with elevated TCRalpha/beta+CD3+CD4-CD8- double-nega¬tive T cells. Br J Ophthalmol. 2010 Jun;94(6):748-52.
17. Neunert C, Lim W, Crowther M, Cohen A, Solberg L, Jr., Crowther MA, et al. The American Society of Hematology 2011 evidence-based practice guideline for immune thrombocytopenia. Blood. 2011 Apr 21;117(16):4190-207.
18. Straus SE, Jaffe ES, Puck JM, Dale JK, Elkon KB, Rosen-Wolff A, et al. The de¬velopment of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood. 2001 Jul 1;98(1):194-200.
19. Rao VK, Dugan F, Dale JK, Davis J, Tretler J, Hurley JK, et al. Use of my¬cophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome. Br J Haematol. 2005 May;129(4):534-8.
How to Cite
Authors who publish with this journal agree to the following terms:
- The Author retains copyright in the Work, where the term “Work” shall include all digital objects that may result in subsequent electronic publication or distribution.
- Upon acceptance of the Work, the author shall grant to the Publisher the right of first publication of the Work.
- The Author shall grant to the Publisher and its agents the nonexclusive perpetual right and license to publish, archive, and make accessible the Work in whole or in part in all forms of media now or hereafter known under a Creative Commons Attribution 4.0 International License or its equivalent, which, for the avoidance of doubt, allows others to copy, distribute, and transmit the Work under the following conditions:
- Attribution—other users must attribute the Work in the manner specified by the author as indicated on the journal Web site; with the understanding that the above condition can be waived with permission from the Author and that where the Work or any of its elements is in the public domain under applicable law, that status is in no way affected by the license.
- The Author is able to enter into separate, additional contractual arrangements for the nonexclusive distribution of the journal's published version of the Work (e.g., post it to an institutional repository or publish it in a book), as long as there is provided in the document an acknowledgment of its initial publication in this journal.
- Authors are permitted and encouraged to post online a prepublication manuscript (but not the Publisher’s final formatted PDF version of the Work) in institutional repositories or on their Websites prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work. Any such posting made before acceptance and publication of the Work shall be updated upon publication to include a reference to the Publisher-assigned DOI (Digital Object Identifier) and a link to the online abstract for the final published Work in the Journal.
- Upon Publisher’s request, the Author agrees to furnish promptly to Publisher, at the Author’s own expense, written evidence of the permissions, licenses, and consents for use of third-party material included within the Work, except as determined by Publisher to be covered by the principles of Fair Use.
- The Author represents and warrants that:
- the Work is the Author’s original work;
- the Author has not transferred, and will not transfer, exclusive rights in the Work to any third party;
- the Work is not pending review or under consideration by another publisher;
- the Work has not previously been published;
- the Work contains no misrepresentation or infringement of the Work or property of other authors or third parties; and
- the Work contains no libel, invasion of privacy, or other unlawful matter.
- The Author agrees to indemnify and hold Publisher harmless from the Author’s breach of the representations and warranties contained in Paragraph 6 above, as well as any claim or proceeding relating to Publisher’s use and publication of any content contained in the Work, including third-party content.
Enforcement of copyright
The IJMS takes the protection of copyright very seriously.
If the IJMS discovers that you have used its copyright materials in contravention of the license above, the IJMS may bring legal proceedings against you seeking reparation and an injunction to stop you using those materials. You could also be ordered to pay legal costs.
If you become aware of any use of the IJMS' copyright materials that contravenes or may contravene the license above, please report this by email to firstname.lastname@example.org
If you become aware of any material on the website that you believe infringes your or any other person's copyright, please report this by email to email@example.com