Autoimmune lymphoproliferative syndrome

(Canale-Smith Syndrome, OMIM: 601859)

It is caused by a mutation in the gene for FAS or FAS ligand.


 * The FAS antigen or CD95 is encoded by the TNFRSF6 gene, located in the 10q24.1 region.
 * The FAS ligand (CD95L) is encoded by the TNFSF6 gene located at 1q23.

The syndrome is inherited autosomal recessively, although even an autosomal dominant type cannot be completely ruled out.

 Clinical manifestations 

They can be different. In principle, apoptosis disorders occur with various consequences on the overall condition of the organism. The onset of the disease may be as early as the prenatal period as well as after several years of life. The most common manifestation is a lymphoproliferative syndrome, most often accompanied by splenomegaly. Hepatomegaly and lymph node enlargement are not always present. The increase in circulating lymphocytes is not constant, mostly B-lymphocyte s multiply. T-lymphocyte s infiltrate some tissues (these are so-called double-negative CD4-CD8- T-lymphocytes). Another typical manifestation is autoimmune reactions. The formation of autoantibodies against cells of the hematopoietic lineage has been described, which results in possible thrombocytopenia, neutropenia, or anemia. However, immunodeficiency as a direct manifestation of autoimmune lymphoproliferative syndrome is relatively rare.

Related articles

 * Primary immunodeficiency

Literature


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