Literature DB >> 30336224

Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant.

Sarah Beaussant Cohen1, Wayne Bainter1, Jared L Johnson2, Ting-Yu Lin2, Jenny C Y Wong2, Jacqueline G Wallace1, Jennifer Jones1, Sonia Qureshi3, Fatima Mir3, Farah Qamar3, Lewis C Cantley2, Raif S Geha1, Janet Chou4.   

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Year:  2018        PMID： 30336224      PMCID： PMC6387453          DOI： 10.1016/j.jaci.2018.10.005

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  9 in total

1.  Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features.

Authors:  Nigel Sharfe; Ariana Karanxha; Harjit Dadi; Daniele Merico; David Chitayat; Jo-Anne Herbrick; Spencer Freeman; Sergio Grinstein; Chaim M Roifman
Journal:  J Allergy Clin Immunol       Date:  2017-11-26       Impact factor: 10.793

2.  Profiling lymphocyte interactions at the single-cell level by microfluidic cell pairing.

Authors:  Burak Dura; Stephanie K Dougan; Marta Barisa; Melanie M Hoehl; Catherine T Lo; Hidde L Ploegh; Joel Voldman
Journal:  Nat Commun       Date:  2015-01-13       Impact factor: 14.919

Review 3.  The PI3K Pathway in Human Disease.

Authors:  David A Fruman; Honyin Chiu; Benjamin D Hopkins; Shubha Bagrodia; Lewis C Cantley; Robert T Abraham
Journal:  Cell       Date:  2017-08-10       Impact factor: 41.582

4.  Primary immunodeficiency disorder caused by phosphoinositide 3-kinase δ deficiency.

Authors:  Georgios Sogkas; Mykola Fedchenko; Akshay Dhingra; Alexandra Jablonka; Reinhold E Schmidt; Faranaz Atschekzei
Journal:  J Allergy Clin Immunol       Date:  2018-07-21       Impact factor: 10.793

5.  Innate PI3K p110δ regulates Th1/Th17 development and microbiota-dependent colitis.

Authors:  Erin C Steinbach; Taku Kobayashi; Steven M Russo; Shehzad Z Sheikh; Gregory R Gipson; Samantha T Kennedy; Jennifer K Uno; Yoshiyuki Mishima; Luke B Borst; Bo Liu; Hans Herfarth; Jenny P Y Ting; R Balfour Sartor; Scott E Plevy
Journal:  J Immunol       Date:  2014-03-14       Impact factor: 5.422

6.  The PI3K isoforms p110alpha and p110delta are essential for pre-B cell receptor signaling and B cell development.

Authors:  Faruk Ramadani; Daniel J Bolland; Fabien Garcon; Juliet L Emery; Bart Vanhaesebroeck; Anne E Corcoran; Klaus Okkenhaug
Journal:  Sci Signal       Date:  2010-08-10       Impact factor: 8.192

7.  Impaired B and T cell antigen receptor signaling in p110delta PI 3-kinase mutant mice.

Authors:  Klaus Okkenhaug; Antonio Bilancio; Géraldine Farjot; Helen Priddle; Sara Sancho; Emma Peskett; Wayne Pearce; Stephen E Meek; Ashreena Salpekar; Michael D Waterfield; Andrew J H Smith; Bart Vanhaesebroeck
Journal:  Science       Date:  2002-07-18       Impact factor: 47.728

Review 8.  PI3Kδ and primary immunodeficiencies.

Authors:  Carrie L Lucas; Anita Chandra; Sergey Nejentsev; Alison M Condliffe; Klaus Okkenhaug
Journal:  Nat Rev Immunol       Date:  2016-09-12       Impact factor: 53.106

9.  A crucial role for the p110delta subunit of phosphatidylinositol 3-kinase in B cell development and activation.

Authors:  Elizabeth Clayton; Giuseppe Bardi; Sarah E Bell; David Chantry; C Peter Downes; Alexander Gray; Lisa A Humphries; David Rawlings; Helen Reynolds; Elena Vigorito; Martin Turner
Journal:  J Exp Med       Date:  2002-09-16       Impact factor: 14.307
  9 in total
  12 in total

Review 1.  Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD-the Goldilocks' Effect.

Authors:  Stuart G Tangye; Julia Bier; Anthony Lau; Tina Nguyen; Gulbu Uzel; Elissa K Deenick
Journal:  J Clin Immunol       Date:  2019-03-25       Impact factor: 8.317

Review 2.  Phosphoinositide 3-kinase δ is a regulatory T-cell target in cancer immunotherapy.

Authors:  Ee Lyn Lim; Klaus Okkenhaug
Journal:  Immunology       Date:  2019-07       Impact factor: 7.397

3.  PI3K Isoforms in B Cells.

Authors:  Elissa K Deenick; Julia Bier; Anthony Lau
Journal:  Curr Top Microbiol Immunol       Date:  2022       Impact factor: 4.737

4.  Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells.

Authors:  Rémy Rodriguez; Benjamin Fournier; Debora Jorge Cordeiro; Sarah Winter; Kazushi Izawa; Emmanuel Martin; David Boutboul; Christelle Lenoir; Sylvie Fraitag; Sven Kracker; Tania H Watts; Capucine Picard; Julie Bruneau; Isabelle Callebaut; Alain Fischer; Bénédicte Neven; Sylvain Latour
Journal:  J Exp Med       Date:  2019-09-19       Impact factor: 14.307

5.  Flow Cytometry-Based Protocols for the Analysis of Human Plasma Cell Differentiation.

Authors:  Sharesta Khoenkhoen; Monika Ádori; Gabriel K Pedersen; Gunilla B Karlsson Hedestam
Journal:  Front Immunol       Date:  2020-09-29       Impact factor: 7.561

Review 6.  Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies.

Authors:  Jodie Ouahed; Elizabeth Spencer; Daniel Kotlarz; Dror S Shouval; Matthew Kowalik; Kaiyue Peng; Michael Field; Leslie Grushkin-Lerner; Sung-Yun Pai; Athos Bousvaros; Judy Cho; Carmen Argmann; Eric Schadt; Dermot P B Mcgovern; Michal Mokry; Edward Nieuwenhuis; Hans Clevers; Fiona Powrie; Holm Uhlig; Christoph Klein; Aleixo Muise; Marla Dubinsky; Scott B Snapper
Journal:  Inflamm Bowel Dis       Date:  2020-05-12       Impact factor: 5.325

Review 7.  Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.

Authors:  Emily S J Edwards; Julian J Bosco; Samar Ojaimi; Robyn E O'Hehir; Menno C van Zelm
Journal:  Cell Mol Immunol       Date:  2020-08-17       Impact factor: 11.530

Review 8.  PI3K inhibitors are finally coming of age.

Authors:  Bart Vanhaesebroeck; Matthew W D Perry; Jennifer R Brown; Fabrice André; Klaus Okkenhaug
Journal:  Nat Rev Drug Discov       Date:  2021-06-14       Impact factor: 112.288

9.  Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Authors:  Stuart G Tangye; Waleed Al-Herz; Aziz Bousfiha; Talal Chatila; Charlotte Cunningham-Rundles; Amos Etzioni; Jose Luis Franco; Steven M Holland; Christoph Klein; Tomohiro Morio; Hans D Ochs; Eric Oksenhendler; Capucine Picard; Jennifer Puck; Troy R Torgerson; Jean-Laurent Casanova; Kathleen E Sullivan
Journal:  J Clin Immunol       Date:  2020-01-17       Impact factor: 8.317

10.  Hyperactive PI3Kδ predisposes naive T cells to activation via aerobic glycolysis programs.

Authors:  Yanjun Jia; Qiuyun Yang; Yanping Wang; Wenyan Li; Xuemei Chen; Tao Xu; Zhirui Tian; Minxuan Feng; Liang Zhang; Wenjing Tang; Na Tian; Lina Zhou; Wenxia Song; Xiaodong Zhao
Journal:  Cell Mol Immunol       Date:  2020-02-25       Impact factor: 22.096
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