PURPOSE OF REVIEW The autoimmune lymphoproliferative syndrome is a recently identified human disorder of lymphocyte apoptosis that has provided important information about Fas-mediated lymphocyte apoptosis. In this review we summarize current information regarding the diagnosis, management and underlying molecular basis of the syndrome. RECENT FINDINGS The genetic basis of autoimmune lymphopr...

1»Titu Maiorescu« University, Faculty of Medicine, Department of Physiology, Center for Rheumatic Diseases, Bucharest, Romania 2»Carol Davila« University of Medicine and Pharmacy, Clinic of Neurology, Colentina Clinical Hospital, Bucharest, Romania 3University of Medicine and Pharmacy, Department of Immunology, Craiova, Romania 4»Carol Davila« University of Medicine and Pharmacy, Clinical Hospi...

autoimmune lymphoproliferative syndrome is a disorder of lymphoid system regulation characterized by chronic splenomegaly, lymphadenopathy and autoimmune phenomena especially immune-mediated cytopenias. the hallmark of the disease is the presence in peripheral blood and lymphoid tissue of increased numbers of a normally rare t lymphocyte subset, usually referred to as “double-negative” t cells....

Coordinated membrane and cytoskeletal remodeling activities are required for membrane extension in processes such as cytokinesis and syncytial nuclear division cycles in Drosophila Pseudocleavage furrow membranes in the syncytial Drosophila blastoderm embryo show rapid extension and retraction regulated by actin-remodeling proteins. The F-BAR domain protein Syndapin (Synd) is involved in membra...

Autoimmune lymphoproliferative Syndrome (ALPS) is a rare inherited disorder of apoptosis. It usually presents with chronic lymphadenopathy, splenomegaly, and symptomatic cytopenia in a child. Herein, we report a 14-year-old boy with symptoms misdiagnosed as hemophagocytic lymphohistiocytosis who was treated before ALPS was diagnosed for the patient. This case should alert pediatricians to consi...

The paper reported on a case of severe myoclonic epilepsy of infancy (SMEI) associated with a probable autoimmune lymphoproliferative syndrome variant (Dianzani autoimmune lymphoproliferative disease) (DALD). A male patient with typical features of SMEI and a SCN1A gene variant presented in the first year of life with multiple lymph nodes, palpable liver at 2 cm from the costal margin, neutrope...