Literature DB >> 31073077

Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ.

David J Swan1, Dominik Aschenbrenner2, Christopher A Lamb1,3, Krishnendu Chakraborty4, Jonathan Clark4, Sumeet Pandey2, Karin R Engelhardt1, Rui Chen1, Athena Cavounidis2, Yuchun Ding5, Natalio Krasnogor5, Christopher D Carey3, Meghan Acres1,3, Stephanie Needham3, Andrew J Cant3, Peter D Arkwright6, Anita Chandra4,7, Klaus Okkenhaug4,8, Holm H Uhlig9,10,11, Sophie Hambleton12,3.   

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Year:  2019        PMID: 31073077      PMCID: PMC6886442          DOI: 10.3324/haematol.2018.208397

Source DB:  PubMed          Journal:  Haematologica        ISSN: 0390-6078            Impact factor:   9.941


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  12 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.  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

3.  PI3K p110delta regulates T-cell cytokine production during primary and secondary immune responses in mice and humans.

Authors:  Dalya R Soond; Elisa Bjørgo; Kristine Moltu; Verity Q Dale; Daniel T Patton; Knut Martin Torgersen; Fiona Galleway; Breda Twomey; Jonathan Clark; J S Hill Gaston; Kjetil Taskén; Peter Bunyard; Klaus Okkenhaug
Journal:  Blood       Date:  2010-01-15       Impact factor: 22.113

4.  Cutting edge: the phosphoinositide 3-kinase p110 delta is critical for the function of CD4+CD25+Foxp3+ regulatory T cells.

Authors:  Daniel T Patton; Oliver A Garden; Wayne P Pearce; Louise E Clough; Clare R Monk; Eva Leung; Wendy C Rowan; Sara Sancho; Lucy S K Walker; Bart Vanhaesebroeck; Klaus Okkenhaug
Journal:  J Immunol       Date:  2006-11-15       Impact factor: 5.422

5.  Protein kinase B controls transcriptional programs that direct cytotoxic T cell fate but is dispensable for T cell metabolism.

Authors:  Andrew N Macintyre; David Finlay; Gavin Preston; Linda V Sinclair; Caryll M Waugh; Peter Tamas; Carmen Feijoo; Klaus Okkenhaug; Doreen A Cantrell
Journal:  Immunity       Date:  2011-02-03       Impact factor: 31.745

6.  Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

Authors:  Mary Ellen Conley; A Kerry Dobbs; Anita M Quintana; Amma Bosompem; Yong-Dong Wang; Elaine Coustan-Smith; Amber M Smith; Elena E Perez; Peter J Murray
Journal:  J Exp Med       Date:  2012-02-20       Impact factor: 14.307

Review 7.  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

8.  PDK1 regulation of mTOR and hypoxia-inducible factor 1 integrate metabolism and migration of CD8+ T cells.

Authors:  David K Finlay; Ella Rosenzweig; Linda V Sinclair; Carmen Feijoo-Carnero; Jens L Hukelmann; Julia Rolf; Andrey A Panteleyev; Klaus Okkenhaug; Doreen A Cantrell
Journal:  J Exp Med       Date:  2012-11-26       Impact factor: 14.307

9.  PI3Kδ Regulates the Magnitude of CD8+ T Cell Responses after Challenge with Listeria monocytogenes.

Authors:  Verity Q Pearce; Hicham Bouabe; Amy R MacQueen; Valentina Carbonaro; Klaus Okkenhaug
Journal:  J Immunol       Date:  2015-08-26       Impact factor: 5.422

Review 10.  PI3K inhibitors in inflammation, autoimmunity and cancer.

Authors:  Anne-Katrien Stark; Srividya Sriskantharajah; Edith M Hessel; Klaus Okkenhaug
Journal:  Curr Opin Pharmacol       Date:  2015-06-18       Impact factor: 5.547

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  10 in total

1.  Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation.

Authors:  Kiera Berger; Dalia Arafat; Shanmuganathan Chandrakasan; Scott B Snapper; Greg Gibson
Journal:  J Pers Med       Date:  2022-06-01

Review 2.  The role of PI3Kγ in the immune system: new insights and translational implications.

Authors:  Stephen M Lanahan; Matthias P Wymann; Carrie L Lucas
Journal:  Nat Rev Immunol       Date:  2022-03-23       Impact factor: 53.106

3.  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

Review 4.  Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling.

Authors:  Sylvain Latour
Journal:  Biomed J       Date:  2022-01-25       Impact factor: 7.892

Review 5.  Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.

Authors:  Romane Thouenon; Nidia Moreno-Corona; Lucie Poggi; Anne Durandy; Sven Kracker
Journal:  Front Pediatr       Date:  2021-06-25       Impact factor: 3.418

6.  Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling.

Authors:  Nidia Moreno-Corona; Loïc Chentout; Lucie Poggi; Romane Thouenon; Cecile Masson; Melanie Parisot; Lou Le Mouel; Capucine Picard; Isabelle André; Marina Cavazzana; Laurence Perrin; Anne Durandy; Saba Azarnoush; Sven Kracker
Journal:  Front Pediatr       Date:  2021-06-24       Impact factor: 3.418

7.  The PI-3-Kinase P110α Catalytic Subunit of T Lymphocytes Modulates Collagen-Induced Arthritis.

Authors:  María Montes-Casado; Gloria Ojeda; Gabriel Criado; José M Rojo; Pilar Portolés
Journal:  Int J Mol Sci       Date:  2021-06-15       Impact factor: 5.923

8.  Phosphoinositide 3-Kinase p110 Delta Differentially Restrains and Directs Naïve Versus Effector CD8+ T Cell Transcriptional Programs.

Authors:  Laura Spinelli; Julia M Marchingo; Aneela Nomura; Marcos P Damasio; Doreen A Cantrell
Journal:  Front Immunol       Date:  2021-06-18       Impact factor: 7.561

Review 9.  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

Review 10.  PI3K in T Cell Adhesion and Trafficking.

Authors:  Kristoffer H Johansen; Dominic P Golec; Julie H Thomsen; Pamela L Schwartzberg; Klaus Okkenhaug
Journal:  Front Immunol       Date:  2021-08-06       Impact factor: 7.561

  10 in total

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