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首页> 外文期刊>The journal of clinical investigation >Too much of a good thing: immunodeficiency due to hyperactive PI3K signaling
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Too much of a good thing: immunodeficiency due to hyperactive PI3K signaling

机译：太好了：PI3K信号过度活跃导致免疫缺陷

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Primary immune deficiency diseases arise due to heritable defects that often involve signaling molecules required for immune cell function. Typically, these genetic defects cause loss of gene function, resulting in primary immune deficiencies such as severe combined immune deficiency (SCID) and X-linked agammaglobulinemia (XLA); however, gain-of-function mutations may also promote immune deficiency. In this issue of the JCI , Deau et al. establish that gain-of-function mutations in PIK3R1 , which encodes the p85α regulatory subunit of class IA PI3Ks, lead to immunodeficiency. These observations are consistent with previous reports that hyperactivating mutations in PIK3CD , which encodes the p110δ catalytic subunit, are capable of promoting immune deficiency. Mutations that reduce PI3K activity also result in defective lymphocyte development and function; therefore, these findings support the notion that too little or too much PI3K activity leads to immunodeficiency.
机译：原发性免疫缺陷疾病是由于遗传缺陷引起的，这些缺陷通常涉及免疫细胞功能所需的信号分子。通常，这些遗传缺陷会导致基因功能丧失，从而导致主要的免疫缺陷，例如严重的联合免疫缺陷（SCID）和X连锁的丙种球蛋白血症（XLA）;然而，功能获得性突变也可能促进免疫缺陷。在JCI的这一期中，Deau等人。证实PIK3R1中的功能获得突变（导致编码IA类PI3K的p85α调节亚基）导致免疫缺陷。这些观察结果与以前的报道一致，PIK3CD中的超活化突变编码p110δ催化亚基，能够促进免疫缺陷。降低PI3K活性的突变也导致淋巴细胞发育和功能缺陷;因此，这些发现支持以下观点：PI3K活性过少或过高都会导致免疫缺陷。

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