A novel germline gain-of-function variant in PIK3CD.

[1]  Braden D. Siempelkamp,et al.  Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans. , 2017, The Journal of allergy and clinical immunology.

[2]  M. van der Burg,et al.  Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections. , 2017, Clinical immunology.

[3]  Braden D. Siempelkamp,et al.  Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1 , 2017, Proceedings of the National Academy of Sciences.

[4]  Bodo Grimbacher,et al.  Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study , 2017, The Journal of allergy and clinical immunology.

[5]  O. Ohara,et al.  Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency. , 2016, The Journal of allergy and clinical immunology.

[6]  B. Lambrecht,et al.  Genes associated with common variable immunodeficiency: one diagnosis to rule them all? , 2016, Journal of Medical Genetics.

[7]  James Y. Zou Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[8]  Gabor T. Marth,et al.  An integrated map of structural variation in 2,504 human genomes , 2015, Nature.

[9]  Roger L. Williams,et al.  Synergy in activating class I PI3Ks. , 2015, Trends in biochemical sciences.

[10]  Marco Biasini,et al.  SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information , 2014, Nucleic Acids Res..

[11]  S. Pittaluga,et al.  Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility , 2014, Journal of Clinical Immunology.

[12]  Nada Jabado,et al.  Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage , 2013, Science.

[13]  J. B. Oliveira,et al.  Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency , 2013, Nature Immunology.

[14]  S. Rosenzweig,et al.  Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis , 2014, Journal of Clinical Immunology.