期刊
JOURNAL OF CLINICAL INVESTIGATION
卷 124, 期 9, 页码 3688-3690出版社
AMER SOC CLINICAL INVESTIGATION INC
DOI: 10.1172/JCI77198
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资金
- NCI NIH HHS [P30 CA062203, R01 CA158383, CA158383] Funding Source: Medline
- NIAID NIH HHS [R21 AI099656, AI099656] Funding Source: Medline
- NIGMS NIH HHS [R01 GM099040, GM099040] Funding Source: Medline
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 p85 alpha regulatory subunit of class IA PI3Ks, lead to immunodeficiency. These observations are consistent with previous reports that hyperactivating mutations in PIK3CD, which encodes the p110 delta 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.
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