Article
Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans.
Blood - 18 Apr 2013
Kuehn Hye Sun, Niemela Julie E, Rangel-Santos Andreia, Zhang Mingchang, Pittaluga Stefania, Stoddard Jennifer L, Hussey Ashleigh A, Evbuomwan Moses O, Priel Debra A Long, Kuhns Douglas B, Park C Lucy, Fleisher Thomas A, Uzel Gulbu, Oliveira João B
Abstract excerpt
Defective lymphocyte apoptosis results in chronic lymphadenopathy and/or splenomegaly associated with autoimmune phenomena. The prototype for human apoptosis disorders is the autoimmune lymphoproliferative syndrome (ALPS), which is caused by mutations in the FAS apoptotic pathway. Recently, patients with an ALPS-like disease called RAS-associated autoimmune leukoproliferative disorder, in which somatic mutations...
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