Literature DB >> 27697496

Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD.

Alina E Dulau Florea1, Raul C Braylan1, Kristian T Schafernak2, Kelli W Williams3, Janine Daub3, Rakesh K Goyal4, Jennifer M Puck5, V Koneti Rao3, Stefania Pittaluga6, Steven M Holland3, Gulbu Uzel3, Katherine R Calvo7.   

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Year:  2016        PMID: 27697496      PMCID: PMC5342918          DOI: 10.1016/j.jaci.2016.08.028

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


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  9 in total

Review 1.  PI3K in lymphocyte development, differentiation and activation.

Authors:  Klaus Okkenhaug; Bart Vanhaesebroeck
Journal:  Nat Rev Immunol       Date:  2003-04       Impact factor: 53.106

Review 2.  Immunophenotypic analysis of hematogones (B-lymphocyte precursors) and neoplastic lymphoblasts by 4-color flow cytometry.

Authors:  Robert W McKenna; Sheryl L Asplund; Steven H Kroft
Journal:  Leuk Lymphoma       Date:  2004-02

Review 3.  The emerging mechanisms of isoform-specific PI3K signalling.

Authors:  Bart Vanhaesebroeck; Julie Guillermet-Guibert; Mariona Graupera; Benoit Bilanges
Journal:  Nat Rev Mol Cell Biol       Date:  2010-04-09       Impact factor: 94.444

Review 4.  Role of PI3K in the generation and survival of B cells.

Authors:  Markus Werner; Elias Hobeika; Hassan Jumaa
Journal:  Immunol Rev       Date:  2010-09       Impact factor: 12.988

5.  Oncogenic transformation induced by the p110beta, -gamma, and -delta isoforms of class I phosphoinositide 3-kinase.

Authors:  Sohye Kang; Adam Denley; Bart Vanhaesebroeck; Peter K Vogt
Journal:  Proc Natl Acad Sci U S A       Date:  2006-01-23       Impact factor: 11.205

6.  Suppression of phosphatidylinositol 3,4,5-trisphosphate production is a key determinant of B cell anergy.

Authors:  Cecille D Browne; Christopher J Del Nagro; Matthew H Cato; Hart S Dengler; Robert C Rickert
Journal:  Immunity       Date:  2009-11-05       Impact factor: 31.745

7.  Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.

Authors:  Carrie L Lucas; Hye Sun Kuehn; Fang Zhao; Julie E Niemela; Elissa K Deenick; Umaimainthan Palendira; Danielle T Avery; Leen Moens; Jennifer L Cannons; Matthew Biancalana; Jennifer Stoddard; Weiming Ouyang; David M Frucht; V Koneti Rao; T Prescott Atkinson; Anahita Agharahimi; Ashleigh A Hussey; Les R Folio; Kenneth N Olivier; Thomas A Fleisher; Stefania Pittaluga; Steven M Holland; Jeffrey I Cohen; Joao B Oliveira; Stuart G Tangye; Pamela L Schwartzberg; Michael J Lenardo; Gulbu Uzel
Journal:  Nat Immunol       Date:  2013-10-28       Impact factor: 25.606

8.  Kinetics of hematogones in bone marrow samples from patients with non-Hodgkin lymphomas treated with rituximab-containing regimens: a flow cytometric study.

Authors:  Giovanni Carulli; Virginia Ottaviano; Paola Sammuri; Cristiana Domenichini; Valentina Guerri; Martina Rousseau; Eugenio M Ciancia; Elena Ciabatti; Mario Petrini
Journal:  Int J Hematol       Date:  2015-05-08       Impact factor: 2.490

9.  Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.

Authors:  Ivan Angulo; Oscar Vadas; Fabien Garçon; Edward Banham-Hall; Vincent Plagnol; Timothy R Leahy; Helen Baxendale; Tanya Coulter; James Curtis; Changxin Wu; Katherine Blake-Palmer; Olga Perisic; Deborah Smyth; Mailis Maes; Christine Fiddler; Jatinder Juss; Deirdre Cilliers; Gašper Markelj; Anita Chandra; George Farmer; Anna Kielkowska; Jonathan Clark; Sven Kracker; Marianne Debré; Capucine Picard; Isabelle Pellier; Nada Jabado; James A Morris; Gabriela Barcenas-Morales; Alain Fischer; Len Stephens; Phillip Hawkins; Jeffrey C Barrett; Mario Abinun; Menna Clatworthy; Anne Durandy; Rainer Doffinger; Edwin R Chilvers; Andrew J Cant; Dinakantha Kumararatne; Klaus Okkenhaug; Roger L Williams; Alison Condliffe; Sergey Nejentsev
Journal:  Science       Date:  2013-10-17       Impact factor: 47.728

  9 in total
  23 in total

1.  Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.

Authors:  David Boutboul; Hye Sun Kuehn; Zoé Van de Wyngaert; Julie E Niemela; Isabelle Callebaut; Jennifer Stoddard; Christelle Lenoir; Vincent Barlogis; Catherine Farnarier; Frédéric Vely; Nao Yoshida; Seiji Kojima; Hirokazu Kanegane; Akihiro Hoshino; Fabian Hauck; Ludovic Lhermitte; Vahid Asnafi; Philip Roehrs; Shaoying Chen; James W Verbsky; Katherine R Calvo; Ammar Husami; Kejian Zhang; Joseph Roberts; David Amrol; John Sleaseman; Amy P Hsu; Steven M Holland; Rebecca Marsh; Alain Fischer; Thomas A Fleisher; Capucine Picard; Sylvain Latour; Sergio D Rosenzweig
Journal:  J Clin Invest       Date:  2018-06-11       Impact factor: 14.808

Review 2.  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

3.  Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1).

Authors:  Lucie Heurtier; Hicham Lamrini; Loïc Chentout; Marie-Céline Deau; Amine Bouafia; Jérémie Rosain; Jean-Marc Plaza; Mélanie Parisot; Benoit Dumont; Delphine Turpin; Etienne Merlin; Despina Moshous; Nathalie Aladjidi; Bénédicte Neven; Capucine Picard; Marina Cavazzana; Alain Fischer; Anne Durandy; Jean-Louis Stephan; Sven Kracker
Journal:  Haematologica       Date:  2017-04-20       Impact factor: 9.941

Review 4.  Autoimmunity and Inflammation in CVID: a Possible Crosstalk between Immune Activation, Gut Microbiota, and Epigenetic Modifications.

Authors:  Silje F Jørgensen; Børre Fevang; Pål Aukrust
Journal:  J Clin Immunol       Date:  2018-11-21       Impact factor: 8.317

Review 5.  Advances and highlights in primary immunodeficiencies in 2017.

Authors:  Javier Chinen; Morton J Cowan
Journal:  J Allergy Clin Immunol       Date:  2018-08-29       Impact factor: 10.793

Review 6.  Role of inhibitory signaling in peripheral B cell tolerance.

Authors:  Andrew Getahun
Journal:  Immunol Rev       Date:  2022-02-06       Impact factor: 12.988

7.  Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.

Authors:  V Koneti Rao; Sharon Webster; Virgil A S H Dalm; Anna Šedivá; P Martin van Hagen; Steven Holland; Sergio D Rosenzweig; Andreas D Christ; Birgitte Sloth; Maciej Cabanski; Aniket D Joshi; Stefan de Buck; Julie Doucet; Danilo Guerini; Christoph Kalis; Ilona Pylvaenaeinen; Nicolas Soldermann; Anuj Kashyap; Gulbu Uzel; Michael J Lenardo; Dhavalkumar D Patel; Carrie L Lucas; Christoph Burkhart
Journal:  Blood       Date:  2017-09-29       Impact factor: 22.113

8.  Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome.

Authors:  Ying Wang; Wenjie Wang; Luyao Liu; Jia Hou; Wenjing Ying; Xiaoying Hui; Qinhua Zhou; Danru Liu; Haili Yao; Jinqiao Sun; Xiaochuan Wang
Journal:  J Clin Immunol       Date:  2018-11-29       Impact factor: 8.542

Review 9.  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

Review 10.  Epstein-Barr Virus Susceptibility in Activated PI3Kδ Syndrome (APDS) Immunodeficiency.

Authors:  Jean-Marie Carpier; Carrie L Lucas
Journal:  Front Immunol       Date:  2018-01-16       Impact factor: 7.561

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