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Current Allergy and Asthma Reports
Published in: Current Allergy and Asthma Reports 9/2014

01-09-2014 | AUTOIMMUNITY (TK TARRANT, SECTION EDITOR)

Autoimmune Lymphoproliferative Syndrome: an Update and Review of the Literature

Authors: Shaili Shah, Eveline Wu, V. Koneti Rao, Teresa K. Tarrant

Published in: Current Allergy and Asthma Reports | Issue 9/2014

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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.
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Metadata
Title
Autoimmune Lymphoproliferative Syndrome: an Update and Review of the Literature
Authors
Shaili Shah
Eveline Wu
V. Koneti Rao
Teresa K. Tarrant
Publication date
01-09-2014
Publisher
Springer US
Published in
Current Allergy and Asthma Reports / Issue 9/2014
Print ISSN: 1529-7322
Electronic ISSN: 1534-6315
DOI
https://doi.org/10.1007/s11882-014-0462-4

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