نتایج جستجو برای: linked lymphoproliferative syndrome
تعداد نتایج: 843487 فیلتر نتایج به سال:
autoimmune lymphoproliferative syndrome (alps) is a prototypic disorder of abnormal lymphocyte homeostasis. in the september 2005 issue of the iranian journal of allergy, asthma and immunology, a patient with clinical features consistent with alps was described. although the clinical presentation was in favor of alps, a precise diagnosis needed more laboratory evaluations.
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....
BACKGROUND X-linked dystonia-deafness syndrome (DDS) is characterized by early-onset deafness followed by progressive dystonia in adulthood. Only 4 families with the syndrome have been reported, and all were white. OBJECTIVE To describe the first nonwhite family with X-linked DDS, involving 5 affected males in 4 generations. RESULTS Clinical features of the family members, who were Japanese...
In this paper, we report on the results of our research, which is designed to address two broad questions about the cognitive and linguistic profile of Down syndrome: (1) Which domains of functioning are especially impaired in individuals with Down syndrome? and (2) Which aspects of the language and cognitive profile of Down syndrome are syndrome specific? To address these questions, we focused...
X-linked lymphoproliferative syndrome (XLP) is a rare primary immunodeficiency characterized by increased vulnerability to Epstein-Barr virus infection. XLP type 1 is caused by mutations in SH2D1A, whereas X-linked inhibitor of apoptosis (XIAP) encoded by XIAP/BIRC4 is mutated in XLP type 2. In XIAP deficiency, hemophagocytic lymphohistiocytosis (HLH) occurs more frequently and recurrence is co...
Autoimmunity and immune dysregulation may lead to cytopenia and represent key features of many primary immunodeficiencies (PIDs). Especially when cytopenia is the initial symptom of a PID, the order and depth of diagnostic steps have to be performed in accordance with both an immunologic and a hematologic approach and will help exclude disorders such as systemic lupus erythematosus, common vari...
X-linked lymphoproliferative syndromes (XLP) are primary immunodeficiencies characterized by a particular vulnerability toward Epstein-Barr virus infection, frequently resulting in hemophagocytic lymphohistiocytosis (HLH). XLP type 1 (XLP-1) is caused by mutations in the gene SH2D1A (also named SAP), whereas mutations in the gene XIAP underlie XLP type 2 (XLP-2). Here, a comparison of the clini...
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