The lymphoproliferative auto-immune syndrome: a rare cause of peripheral cytopenia

Raida Ben Salah; Mona Snoussi; Nour Louati; Chebbi Donia; Faten Frikha; Mnif Hela; Bahloul Zouhir

doi:10.29333/ejgm/94112

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Raida Ben Salah ¹ ^* , Mona Snoussi ¹, Nour Louati ², Chebbi Donia ¹, Faten Frikha ¹, Mnif Hela ², Bahloul Zouhir ¹

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¹ Department of Internal Medicine, Hedi Chaker Hospital Sfax, Tunisia² Center of Transfusion, Hedi Chaker Hospital Sfax, Tunisia^* Corresponding Author

Abstract

Autoimmune Lymphoproliferative syndrome is an inherited disorder manifesting with autoimmune cytopenia, lymphadenopathy and splenomegaly. The differential diagnosis includes infections, autoimmune disorders or malignancies. The disease is characterized by accumulation of double negative (CD3+ CD4- CD8-) T cells (DNT) in the peripheral blood. Here we report the case of 19 years-old girl that was diagnosed as autoimmune Lymphoproliferative syndrome with a literature review.

Keywords

lymphoproliferative auto-immune syndrome
cytopenia

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Case Report

ELECTRON J GEN MED, Volume 15, Issue 5, October 2018, Article No: em78

https://doi.org/10.29333/ejgm/94112

Publication date: 23 Aug 2018

Article Views: 2109

Article Downloads: 1401

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Declaration of Conflict of Interest: No conflict of interest is declared by author(s).

References

Clementi R, Dagna L, Dianzani U, Dupre L, Dianzani I, Ponzoni M, et al. Inherited perforin and Fas Mutations in a patient with Autoimmune Lymphoproliferative Syndrome and Lymphoma. N Engl J Med. 2004;351(14):1419-24. https://doi.org/10.1056/NEJMoa041432 PMid:15459303.
Aspinall AI, Pinto A, Auer IA, Bridges P, Luider J, Dimnik L, et al. Identification of New Fas Mutations in a patient with Autoimmune Lymphoproliferative Syndrome (ALPS) and Eosinophilia. Blood cells Mol Dis. 1999;25(3-4):227-38. https://doi.org/10.1006/bcmd.1999.0248 PMid:10575548.
Canale VC, Smith CH. Chronic lymphadenopathysimulating malignant lymphoma. J Pediatr. 1967;70:891–9. https://doi.org/10.1016/S0022-3476(67)80262-2.
Malzberg MS, Haller JO, Snieckus PJ, Halpern SL. Canale-Smith syndrome: chronic pseudomalignant lymphadenopathy. J Clin Ultrasound. 1991;19:172–4. https://doi.org/10.1002/jcu.1870190309 PMID: 1849925.
Sneller MC, Wang J, Dale JK, Strober W, Middelton LA, Choi Y, Fleisher TA, Lim MS, Jaffe ES, Puck JM, Leonardo MJ, Straus SE. Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood. 1997;89:1341–8. PMid:9028957.
Gren H, GHlen H, Duman M, UJar C, Atabay B, Yılmaz S, I˙rken G. Autoimmune lymphoproliferative syndrome: report of two cases and review of the literature. Ann Hematol. 2002;81:651–3. https://doi.org/10.1007/s00277-002-0537-5 PMid:12454704.
Holzelova E, Vonarbourg C, Stolzenberg MC, Arkwright PD, Selz F, Prieur AM, Blanche S, Bartunkova J, Vilmer E, Fischer A, Le Deist F, Rieux-Laucat F. Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med. 2004 Sep 30;351(14):1409-18. https://doi.org/10.1056/NEJMoa040036 PMid:15459302.
Magerus-Chatinet A, Neven B, Stolzenberg MC, Daussy C, Arkwright PD, Lanzarotti N, Schaffner C, Cluet-Dennetiere S, Haerynck F, Michel G, Bole-Feysot C, Zarhrate M, Radford-Weiss I, Romana SP, Picard C, Fischer A, Rieux-Laucat FJ. Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. Clin Invest. 2011 Jan;121(1):106-12. https://doi.org/10.1172/JCI43752.
Aspinall AI, Pinto A, Auer IA, Bridges P, Luider J, Dimnik L, et al. Identification of New Fas Mutations in a patient with Autoimmune Lymphoproliferative Syndrome (ALPS) and Eosinophilia. Blood cells Mol Dis 1999;25(3-4):227-38. https://doi.org/10.1006/bcmd.1999.0248 PMid:10575548.
Fisher G, Rosenberg F, Straus S, Dale J, Middelton L, Lin A,Strober W, Lenardo M, Puck J. Dominant interfering fas gene mutation impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell. 1995;81:935–46. https://doi.org/10.1016/0092-8674(95)90013-6.
Koneti Rao V, Oliveira JB. How I treat autoimmune lymphoproliferative syndrome. Blood. 2011 Nov 24;118(22):5741–51. https://doi.org/10.1182/blood-2011-07-325217 PMid:21885601 PMCid:PMC3228494.
Stroncek DF, Carter LB, Procter JL, Dale JK, Straus SE. RBC autoantibodies in autoimmune lymphoproliferative syndrome. Transfusion. 2001 Jan;41(1):18-23. https://doi.org/10.1046/j.1537-2995.2001.41010018.x PMid:11161240.
Oliveira JB, Bleesing JJ, Dianzani U, Fleisher TA, Jaffe ES, Lenardo MJ, Rieux-Laucat F, Siegel RM, Su HC, Teachey DT, Rao VK. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood. 2010 Oct 7;116(14):e35-40. https://doi.org/10.1182/blood-2010-04-280347 PMid:20538792 PMCid:PMC2953894.
Straus SE, Jaffe ES, Puck JM, Dale JK, Elkon KB, Rösen-Wolff A, Peters AM, Sneller MC, Hallahan CW, Wang J, Fischer RE, Jackson CE, Lin AY, Bäumler C, Siegert E, Marx A, Vaishnaw AK, Grodzicky T, Fleisher TA, Lenardo MJ The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood. 2001 Jul 1;98(1):194-200. https://doi.org/10.1182/blood.V98.1.194 PMid:11418480.
Benkerrou M, Le Deist F, de Villartay JP, Caillat-Zucman S, Rieux-Laucat F, Jabado N, Cavazzana-Calvo M, Fischer A. Correction of Fas (CD95) deficiency by haploidentical bone marrow transplantation. Eur J Immunol. 1997 Aug;27(8):2043-7. https://doi.org/10.1002/eji.1830270831 PMid:9295043.

How to cite this article

Vancouver

Ben Salah R, Snoussi M, Louati N, Donia C, Frikha F, Hela M, et al. The lymphoproliferative auto-immune syndrome: a rare cause of peripheral cytopenia. ELECTRON J GEN MED. 2018;15(5):em78. https://doi.org/10.29333/ejgm/94112

APA

Ben Salah, R., Snoussi, M., Louati, N., Donia, C., Frikha, F., Hela, M., & Zouhir, B. (2018). The lymphoproliferative auto-immune syndrome: a rare cause of peripheral cytopenia. Electronic Journal of General Medicine, 15(5), em78. https://doi.org/10.29333/ejgm/94112

AMA

Ben Salah R, Snoussi M, Louati N, et al. The lymphoproliferative auto-immune syndrome: a rare cause of peripheral cytopenia. ELECTRON J GEN MED. 2018;15(5), em78. https://doi.org/10.29333/ejgm/94112

Chicago

Ben Salah, Raida, Mona Snoussi, Nour Louati, Chebbi Donia, Faten Frikha, Mnif Hela, and Bahloul Zouhir. "The lymphoproliferative auto-immune syndrome: a rare cause of peripheral cytopenia". Electronic Journal of General Medicine 2018 15 no. 5 (2018): em78. https://doi.org/10.29333/ejgm/94112

Harvard

Ben Salah, R., Snoussi, M., Louati, N., Donia, C., Frikha, F., Hela, M., and Zouhir, B. (2018). The lymphoproliferative auto-immune syndrome: a rare cause of peripheral cytopenia. Electronic Journal of General Medicine, 15(5), em78. https://doi.org/10.29333/ejgm/94112

MLA

Ben Salah, Raida et al. "The lymphoproliferative auto-immune syndrome: a rare cause of peripheral cytopenia". Electronic Journal of General Medicine, vol. 15, no. 5, 2018, em78. https://doi.org/10.29333/ejgm/94112