Autoimmune Lymphoproliferative Syndrome (ALPS): A Case Report

Authors

  • Yazan S. Mousa Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan.

DOI:

https://doi.org/10.5195/ijms.2016.165

Keywords:

Autoimmune Lymphoproliferative Syndrome, Autoimmunity; Pancytopenia

Abstract

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.

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References

1. Price S, Shaw PA, Seitz A, Joshi G, Davis J, Niemela JE, et al. Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mu¬tations. Blood. 2014 Mar 27;123(13):1989-99.
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.

Published

2016-12-31

How to Cite

Mousa, Y. S. (2016). Autoimmune Lymphoproliferative Syndrome (ALPS): A Case Report. International Journal of Medical Students, 4(3), 123–126. https://doi.org/10.5195/ijms.2016.165

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Case Report

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