نتایج جستجو برای: linked lymphoproliferative syndrome
تعداد نتایج: 843487 فیلتر نتایج به سال:
A diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency during adulthood is unusual. We analyzed 17 cases of autoimmune lymphoproliferative syndrome caused by FAS deficiency diagnosed during adulthood in French reference centers for hereditary immunodeficiencies and for immune cytopenias. Twelve of the 17 patients had developed their first symptoms during childhood. The ...
Lymphoproliferative disorder (LPD) is a severe adverse outcome of methotrexate (MTX) administration in patients with rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). The immunosuppression caused attributed to pathogenesis. Hence, discontinuation the treatment. Reports on spontaneous tumor lysis cessation MTX are rare. We report case female her 50s methotrexate-associated lympho...
X-Linked intellectual disability (XLID) accounts for 5%-10% of intellectual disability in males. Over 150 syndromes, the most common of which is the fragile X syndrome, have been described. A large number of families with nonsyndromal XLID, 95 of which have been regionally mapped, have been described as well. Mutations in 102 X-linked genes have been associated with 81 of these XLID syndromes a...
Autoimmune lymphoproliferative syndrome is frequently caused by mutations in genes involved in the Fas death receptor pathway, but for 20-30% of patients the genetic defect is unknown. We observed that treatment of healthy T cells with interleukin-12 induces upregulation of Fas ligand and Fas ligand-dependent apoptosis. Consistently, interleukin-12 could not induce apoptosis in Fas ligand-defic...
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