Autoimmune lymphoproliferative syndrome: an update and review of the literature.

Abstract:

:Autoimmune lymphoproliferative syndrome (ALPS) is characterized by immune dysregulation due to a defect in lymphocyte apoptosis. The clinical manifestations may be noted in multiple family members and include lymphadenopathy, splenomegaly, increased risk of lymphoma, and autoimmune disease, which typically involves hematopoietic cell lines manifesting as multilineage cytopenias. Since the disease was first characterized in the early 1990s, there have been many advances in the diagnosis and management of this syndrome. The inherited genetic defect of many ALPS patients has involved (FAS) pathway signaling proteins, but there remain those patients who carry undefined genetic defects. Despite ALPS having historically been considered a primary immune defect presenting in early childhood, adult onset presentation is increasingly becoming recognized and more so in genetically undefined patients and those with somatic FAS mutations. Thus, future research may identify novel pathways and/or regulatory proteins important in lymphocyte activation and apoptosis.

authors

Shah S,Wu E,Rao VK,Tarrant TK

doi

10.1007/s11882-014-0462-4

subject

Has Abstract

pub_date

2014-09-01 00:00:00

pages

462

issue

9

eissn

1529-7322

issn

1534-6315

journal_volume

14

pub_type

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