自身免疫性淋巴增生综合征：一名5岁儿童对霉酚酸酯及乙胺嘧啶/磺胺多辛的反应

Autoimmune lymphoproliferative syndrome: response to mycophenolate mofetil and pyrimethamine/sulfadoxine in a 5-year-old child.

作者信息

Arora Sunaina, Singh Neeraj, Chaudhary Gurmeet Kaur, John M Joseph

出版信息

Indian J Hematol Blood Transfus. 2011 Jun;27(2):101-3. doi: 10.1007/s12288-011-0058-2. Epub 2011 Apr 16.

DOI:10.1007/s12288-011-0058-2

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3136666/

Abstract

Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare inherited disorder of disrupted lymphocyte homeostasis characterized by chronic splenomegaly and lymphadenopathy of early onset, hypergammaglobulinemia (Ig G and Ig A), autoimmune phenomena, and expanded populations of TCR-α/β+, CD3+, CD4-, CD8-T cells (Fisher et al. Cell 81:935-946; 1995), called double negative T-cells [(DN) T cells]. We discuss a case of ALPS which showed good response to immunosuppressant drug Mycophenolate-Mofetil in combination with Pyrimethamine/Sulfadoxine.

摘要

自身免疫性淋巴细胞增生综合征（ALPS）是一种罕见的遗传性疾病，其特征是淋巴细胞稳态紊乱，表现为慢性脾肿大和早发性淋巴结病、高球蛋白血症（IgG和IgA）、自身免疫现象，以及TCR-α/β+、CD3+、CD4-、CD8-T细胞群扩大（Fisher等人，《细胞》81:935-946；1995年），这些细胞被称为双阴性T细胞[（DN）T细胞]。我们讨论了一例ALPS病例，该病例对免疫抑制药物霉酚酸酯与乙胺嘧啶/磺胺多辛联合治疗反应良好。

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本文引用的文献

1

Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype.

Br J Haematol. 2006 Apr;133(2):124-40. doi: 10.1111/j.1365-2141.2006.05993.x.

2

Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome.

Br J Haematol. 2005 May;129(4):534-8. doi: 10.1111/j.1365-2141.2005.05496.x.

3

Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations.

Blood. 1999 Oct 15;94(8):2575-82.

4

The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.

J Clin Invest. 1999 Feb;103(3):355-63. doi: 10.1172/JCI5121.

5

Pathological findings in human autoimmune lymphoproliferative syndrome.

Am J Pathol. 1998 Nov;153(5):1541-50. doi: 10.1016/S0002-9440(10)65742-2.

6

Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity.

N Engl J Med. 1996 Nov 28;335(22):1643-9. doi: 10.1056/NEJM199611283352204.

7

Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.

Cell. 1995 Jun 16;81(6):935-46. doi: 10.1016/0092-8674(95)90013-6.

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