0000000000962039
AUTHOR
A Malagoli
Missense mutations in the fas gene resulting in autoimmune lymphoproliferative syndrome: A molecular and immunological analysis
AbstractProgrammed cell death (or apoptosis) is a physiological process essential to the normal development and homeostatic maintenance of the immune system. The Fas/Apo-1 receptor plays a crucial role in the regulation of apoptosis, as demonstrated by lymphoproliferation in MRL-lpr/lpr mice and by the recently described autoimmune lymphoproliferative syndrome (ALPS) in humans, both of which are due to mutations in the Fas gene. We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis. The children share common clinical features including splenomegaly and lymphadenopathy, b…
The progression rate of aortic stenosis: key to tailoring the management and potential target for treatment
: Aortic stenosis is the most frequent valvular disease to require intervention in the western world and has always been featured as a progressive disease. The rate of progression can be assessed by carefully performed Doppler echocardiography and can vary greatly between individuals with a profound impact on prognosis. Unfortunately, the determinants of disease progression had been insufficiently studied and remain challenging to define, particularly in the outpatient setting. Multiple factors have been proposed and tested, but at present, there are no proven therapies to slow the course of the stenotic process. Heart valve clinics may be particularly important to define the progression ra…