. . . . . . . "[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."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:15:21+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .