Autoimmune Lymphoproliferative Syndrome (ALPS): A Case Report

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

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
Section
Case Report