Defective expression of the interleukin-2/interleukin-15 receptor beta subunit leads to a natural killer cell-deficient form of severe combined immunodeficiency.
Defective expression of the interleukin-2/interleukin-15 receptor beta subunit leads to a natural killer cell-deficient form of severe combined immunodeficiency.
复制标题
白细胞介素 2/白细胞介素 15 受体 β 亚基的缺陷表达会导致自然杀伤细胞缺陷形式的严重联合免疫缺陷。
作者：
Kimberly C Gilmour;Hodaka Fujii;Treena Cranston;E. Graham Davies;Christine Kinnon;H. B. Gaspar
T和自然杀伤（NK）细胞的发育严重依赖于细胞因子信号传导，细胞因子受体复合物亚单位的缺陷已被证明在人和小鼠模型中导致严重的联合免疫缺陷（SCID）综合征。一个男婴有典型的临床特征SCID和发现缺乏NK细胞在他的外周循环。分子分析未发现他的γ - mac或JAK-3基因异常，并对他进行了白介素-15 （IL-15）受体复合物缺陷的研究，因为功能性IL-15信号传导对NK细胞发育至关重要。免疫印迹、流式细胞术和Northern印迹分析显示，患者外周血单个核细胞（PBMCs）中IL-2R/IL-15Rbeta链的表达显著降低。此外，IL-2刺激PBMCs仅显示极少量的JAK-3酪氨酸磷酸化。这些数据表明，IL-2R/1L-15Rbeta表达缺陷可导致独特的nk缺陷SCID免疫表型。(血。2001;98:877 - 879)
Development of T and natural killer (NK) cells is critically dependent on cytokine signaling, and defects in cytokine receptor complex subunits have been shown to result in severe combined immunodeficiency (SCID) syndromes in humans and in murine models. An infant boy had typical clinical features of SCID and was found to lack NK cells in his peripheral circulation. Molecular analysis did not reveal abnormalities in his gammac or JAK-3 genes, and he was investigated for defects in the interleukin-15 (IL-15) receptor complex because functional IL-15 signaling is essential for NK cell development. Expression of the IL-2R/IL-15Rbeta chain was significantly reduced in the patient's peripheral blood mononuclear cells (PBMCs) by immunoblot, flow cytometry, and Northern blot analysis. Furthermore, IL-2 stimulation of PBMCs showed only minimal tyrosine phosphorylation of JAK-3. These data demonstrate that defects in IL-2R/1L-15Rbeta expression can lead to a unique NK-deficient SCID immunophenotype. (Blood. 2001;98:877-879)
通过激活潜在 DNA 结合因子，催乳素和白细胞介素 2 的细胞核信号转导受体。
DOI：
10.1073/pnas.91.15.6850
发表时间：
1994
影响因子：
11.1
作者：
Gilmour,KC;Reich,NC
通讯作者：
Reich,NC
影响因子：
32.4
作者：
WILLERFORD, DM;CHEN, JZ;ALT, FW
通讯作者：
ALT, FW
影响因子：
32.4
作者：
Lodolce, JP;Boone, DL;Ma, A
通讯作者：
Ma, A