نتایج جستجو برای: linked lymphoproliferative syndrome
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X-linked lymphoproliferative syndrome is an inherited immunodeficiency for which the responsible gene is currently unknown. Several megabase-sized deleted regions mapping to Xq25 have been identified in XLP patients, and more recently a 130-kb deletion has been reported (Lamartine et al., 1996; Lanyi et al., 1996). To establish a physical map of this deleted region and to identify the XLP gene,...
X-linked lymphoproliferative (XLP) disease is a primary immunodeficiency caused by a defect in the SH2D1A gene. At least 3 major manifestations characterize its clinical presentation: fatal infectious mononucleosis (FIM), lymphomas, and immunoglobulin deficiencies. Common variable immunodeficiency (CVID) is a syndrome characterized by immunoglobulin deficiency leading to susceptibility to infec...
The molecular basis of X-linked lymphoproliferative (XLP) disease has been attributed to mutations in the signaling lymphocytic activation molecule-associated protein (SAP), an src homology 2 domain-containing intracellular signaling molecule known to interact with the lymphocyte-activating surface receptors signaling lymphocytic activation molecule and 2B4. To investigate the effect of SAP def...
We report here a patient with mucosa associated lymphoid tissue (MALT)-lymphoma of the breast complicated with Sjögren syndrome. It is speculated that Ga-67 could accumulate not only in lymphoma lesions but also in benign lymphoproliferative locations of Sjögren syndrome. Gallium-67 scintigraphy might be useful for the diagnosis and therapeutic monitoring of MALT-lymphoma complicated with Sjögr...
OBJECTIVES To review the management of primary immunodeficiency and discuss recent advances in genetic analysis. DESIGN Retrospective study. SETTING University teaching hospital, Hong Kong. PATIENTS Children diagnosed with primary immunodeficiency and followed up in the immunology clinic during the period 1988 to 2003. MAIN OUTCOME MEASURES Demographic data, co-morbidities and treatment...
Basic attentional processes and their impact on developmental trajectories in fragile X syndrome were assessed in a 3-year prospective study. Although fragile X syndrome is a monogenic X-linked disorder, there is striking variability in outcomes even in young boys with the condition. Attention is a key factor constraining interactions with the environment, so it is a perfect candidate to predic...
Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented. Clinical features also manifest themselves through changes in the teeth, eyes, hair, central nervous system, bone structures, skeletal musculature an...
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