首页> 外文会议>Annual Meeting of the American Society for Veterinary Clinical Pathology >Canine X-linked severe combined immunodeficiency: a model for investigating the requirement for the common gamma chain (#gamma#c) in lymphocyte development and function
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Canine X-linked severe combined immunodeficiency: a model for investigating the requirement for the common gamma chain (#gamma#c) in lymphocyte development and function

机译:犬X链接严重的综合免疫缺陷:一种研究淋巴细胞发育和功能常见γ链(#γ#c)的要求

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X-linked severe combined immunodeficiency (XSCID), the most common form of human SCID, is due to mutations in the common gamma (#gamma#c) subunit of the receptors for IL-2, IL-4, IL-7, IL-9 and IL-15. The shared usage of the #gamma#c by receptors for growth factors that are essential for normal B and T cell development and function explains the profound immunologic abnormalities and clinical severity of the disease. XSCID boys rarely survive past two years of age unless given a bone marrow transplant (BMT). The most striking clinical feature is a failure to thrive. At the time of diagnosis, affected boys have markedly reduced or absent T cells that fail to proliferate in response to stimulation. Peripheral B cells are present in normal or increased numbers and have a virgin (IgM~+) phenotype, but they fail to mature and function normally. Allogeneic BMT has been the treatment of choice for all forms of SCID since 1968 when the first BMT was performed for treatment of a boy with XSCID. BMT of human XSCID patients results in engraftment of donor T cells and reconstitution of T cell function but engraftment of few, if any, donor B cells with resultant poor reconstitution of humoral immune function.
机译:X链接严重的综合免疫缺陷(XScid),最常见的人SCID形式,是由于IL-2,IL-4,IL-7,IL的受体的常见γ(#Gamma#C)亚基的突变-9和IL-15。通过对正常B和T细胞发展至关重要的增长因子的受体对#Gamma#C的共同用法解释了疾病的深远的免疫异常和临床严重程度。除非给予骨髓移植(BMT),否则XSCID男孩很少在两岁时存活。最引人注目的临床特征是未能茁壮成长。在诊断时,受影响的男孩显着减少或不存在不促进刺激的T细胞。外周B细胞以正常或增加的数量存在,并且具有处女(IgM〜+)表型,但它们不能成熟并且正常运作。当第一个BMT进行以治疗具有XSCID的男孩进行治疗时,同种异体BMT一直是自1968年以来的所有形式的SCID选择。人XSCID患者的BMT导致供体T细胞的植入和T细胞功能的重建,但植物植入少数,如果有的话,如果有的话,则具有较差的体液免疫功能差的重建。

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