autoimmune lymphoproliferative syndrome type 1B

Home » Classic Medicine » Syndromes » autoimmune lymphoproliferative syndrome type 1B
autoimmune lymphoproliferative syndrome type 1B2016-11-24T20:52:27+00:00

autoimmune lymphoproliferative syndrome type 1B

IMMUNOLOGY

Definition A disorder (OMIM:601859) of apoptosis that manifests in early childhood with accumulation of autoreactive lymphocytes.

Clinical findings Benign lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, thrombocytopenia and neutropenia. FAS-mediated apoptosis may play a role in inducing peripheral tolerance and/or in  antigen-stimulated suicide of mature T-cells

Molecular pathology Defects of FASLG, which encodes a cytokine involved in apoptosis, cause autoimmune lymphoproliferative syndrome type 1B. 

Synonyms Autoimmune lymphoproliferative syndrome type 1—autosomal dominant, Canale-Smith syndrome 

References  http://www.uniprot.org/uniprot/P48023

http://www.omim.org/entry/601859

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.