CASE REPORT
The lymphoproliferative auto-immune syndrome: a rare cause of peripheral cytopenia
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1
Department of Internal Medicine, Hedi Chaker Hospital Sfax, Tunisia
 
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Center of Transfusion, Hedi Chaker Hospital Sfax, Tunisia
 
 
Publication date: 2018-08-23
 
 
Electron J Gen Med 2018;15(5):em78
 
KEYWORDS
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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.
 
REFERENCES (15)
1.
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/NEJMoa... PMid:15459303.
 
2.
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.1... PMid:10575548.
 
3.
Canale VC, Smith CH. Chronic lymphadenopathysimulating malignant lymphoma. J Pediatr. 1967;70:891–9. https://doi.org/10.1016/S0022-....
 
4.
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.18... PMID: 1849925.
 
5.
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.
 
6.
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... PMid:12454704.
 
7.
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/NEJMoa... PMid:15459302.
 
8.
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/JCI437....
 
9.
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.1... PMid:10575548.
 
10.
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/10.1016/0092-8....
 
11.
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-... PMid:21885601 PMCid:PMC3228494.
 
12.
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... PMid:11161240.
 
13.
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-... PMid:20538792 PMCid:PMC2953894.
 
14.
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.... PMid:11418480.
 
15.
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.18... PMid:9295043.
 
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