Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS)

被引：74

作者：

Teachey, David T. ^{[1
,2
]}

Seif, Alix E. ^{[2
]}

Grupp, Stephan A. ^{[1
,3
]}

机构：

[1] Univ Penn, Childrens Hosp Philadelphia, Sch Med, Div Pediat Hematol, Philadelphia, PA 19104 USA

[2] Univ Penn, Childrens Hosp Philadelphia, Sch Med, Dept Pediat Oncol, Philadelphia, PA 19104 USA

[3] Univ Penn, Childrens Hosp Philadelphia, Sch Med, Dept Pathol, Philadelphia, PA 19104 USA

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2010年 / 148卷 / 02期

关键词：

cytopenia; autoimmune haemolytic anaemia; autoimmune neutropenia; lymphoproliferative disease; immune thrombocytopenic purpura; FAS GENE-MUTATIONS; REFRACTORY IMMUNE CYTOPENIAS; CD4(-)CD8(-) T-CELLS; MYCOPHENOLATE-MOFETIL; THROMBOCYTOPENIC PURPURA; DOMINANT EXPRESSION; INTERFERON-GAMMA; MOLECULAR-BASIS; DISEASE; APOPTOSIS;

D O I：

10.1111/j.1365-2141.2009.07991.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

P>Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of T cell dysregulation caused by defective Fas-mediated apoptosis. Patients with ALPS can develop a myriad of clinical manifestations including lymphadenopathy, hepatosplenomegaly, autoimmunity and increased rates of malignancy. ALPS may be more common that originally thought, and testing for ALPS should be considered in patients with unexplained lymphadenopathy, hepatosplenomegaly, and/or autoimmunity. As the pathophysiology of ALPS is better characterized, a number of targeted therapies are in preclinical development and clinical trials with promising early results. This review describes the clinical and laboratory manifestations found in ALPS patients, as well as the molecular basis for the disease and new advances in treatment.

引用

页码：205 / 216

页数：12

共 82 条

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