Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K - Lucas, Carrie L.; Zhang, Yu; Venida, Anthony; Wang, Ying; Hughes, Jason; McElwee, Joshua; Butrick, Morgan; Matthews, Helen; Price, Susan; Biancalana, Matthew; Wang, Xiaochuan; Richards, Michael; et al. (The Journal of experimental medicine, 2014)
Keywords: Adolescent; Adult; Alternative Splicing - genetics; Antibody Formation; Base Sequence; Catalytic Domain; CD8-Positive T-Lymphocytes - immunology; Cell Differentiation; Child, Preschool; Enzyme Activation; Exons - genetics; Female; Genes, Dominant; Heterozygote; Humans; Immunologic Deficiency Syndromes - enzymology; Immunologic Deficiency Syndromes - genetics; Immunologic Deficiency Syndromes - immunology; Lymphoproliferative Disorders - enzymology; Lymphoproliferative Disorders - genetics; Lymphoproliferative Disorders - immunology; Male; Molecular Sequence Data; Mutation - genetics; Pedigree; Phosphatidylinositol 3-Kinases - chemistry; Phosphatidylinositol 3-Kinases - genetics; Protein Structure, Tertiary; Sequence Deletion; Signal Transduction; Telomere - metabolism; TOR Serine-Threonine Kinases - antagonists & inhibitors; TOR Serine-Threonine Kinases - metabolism