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[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? regulatory subunit of class IA PI3Ks, lead to immunodeficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
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