نتایج جستجو برای: linked lymphoproliferative syndrome
تعداد نتایج: 843487 فیلتر نتایج به سال:
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 disorders, including autoimmune lymphoproliferative syndrome (ALPS) and Dianzani autoimmune lymphoproliferative disease (DALD), are inherited defects of the Fas apoptotic pathway characterized by lymphoid accumulation and autoimmune manifestations. We report the molecular, clinical, immunologic features and the long-term progress of 31 patients. Four carried Fas g...
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...
oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity, facial features and digits. furthermore, central nervous system (cns) abnormalities can also be part of this developmental disorder. at least 13 forms of ofds based on their pattern of signs and symptoms have been identified so far. type 1 which is now considered to be a...
The management of exudative retinal detachment in Coats disease can be very difficult with variable results. A case is presented of a 12 year old boy who was diagnosed with X-linked retinitis pigmentosa with an associated "Coat's Response". The patient had a marked reduction in his left visual acuity due to intragel and subhyaloid haemorrhage as well as exudative retinal detachment. This was ma...
Introduction. Coincidence of X-linked agammaglobulinemia (XLA) and secondary hemophagocytic syndrome (sHS) is atypical. Both diseases are rare and pathogenesis of the latter one is not clearly known. Case Presentation. A 5-year-old boy was diagnosed both with XLA and sHS. However, in his history, he did not have severe and recurrent infections. Bruton tyrosine kinase (BTK) gene mutation was pre...
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