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Literature DB >> 28428270

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

Lucie Heurtier^1,2, Hicham Lamrini^1,2, Loïc Chentout^1,2, Marie-Céline Deau^1,2, Amine Bouafia^1,2, Jérémie Rosain³, Jean-Marc Plaza⁴, Mélanie Parisot⁵, Benoit Dumont⁶, Delphine Turpin⁷, Etienne Merlin⁸, Despina Moshous^1,2,9, Nathalie Aladjidi¹⁰, Bénédicte Neven^1,2,9, Capucine Picard^1,2,3, Marina Cavazzana^1,2,11, Alain Fischer^1,2,9,12, Anne Durandy^1,2, Jean-Louis Stephan⁶, Sven Kracker^13,2.

Abstract

Entities: Gene

Mesh：

Substances：

Year: 2017 PMID： 28428270 PMCID： PMC5566055 DOI： 10.3324/haematol.2017.167601

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

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15 in total

1. Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.

Authors: M C Crank; J K Grossman; S Moir; S Pittaluga; C M Buckner; L Kardava; A Agharahimi; H Meuwissen; J Stoddard; J Niemela; H Kuehn; S D Rosenzweig
Journal: J Clin Immunol Date: 2014-03-08 Impact factor: 8.317

2. Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1.

Authors: Gillian L Dornan; Braden D Siempelkamp; Meredith L Jenkins; Oscar Vadas; Carrie L Lucas; John E Burke
Journal: Proc Natl Acad Sci U S A Date: 2017-02-06 Impact factor: 11.205

3. The Rational Design of Selective Benzoxazepin Inhibitors of the α-Isoform of Phosphoinositide 3-Kinase Culminating in the Identification of (S)-2-((2-(1-Isopropyl-1H-1,2,4-triazol-5-yl)-5,6-dihydrobenzo[f]imidazo[1,2-d][1,4]oxazepin-9-yl)oxy)propanamide (GDC-0326).

Authors: Timothy P Heffron; Robert A Heald; Chudi Ndubaku; BinQing Wei; Martin Augistin; Steven Do; Kyle Edgar; Charles Eigenbrot; Lori Friedman; Emanuela Gancia; Philip S Jackson; Graham Jones; Aleksander Kolesnikov; Leslie B Lee; John D Lesnick; Cristina Lewis; Neville McLean; Mario Mörtl; Jim Nonomiya; Jodie Pang; Steve Price; Wei Wei Prior; Laurent Salphati; Steve Sideris; Steven T Staben; Stefan Steinbacher; Vickie Tsui; Jeffrey Wallin; Deepak Sampath; Alan G Olivero
Journal: J Med Chem Date: 2016-01-20 Impact factor: 7.446

4. Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency.

Authors: Yuki Tsujita; Kanako Mitsui-Sekinaka; Kohsuke Imai; Tzu-Wen Yeh; Noriko Mitsuiki; Takaki Asano; Hidenori Ohnishi; Zenichiro Kato; Yujin Sekinaka; Kiyotaka Zaha; Tamaki Kato; Tsubasa Okano; Takehiro Takashima; Kaoru Kobayashi; Mitsuaki Kimura; Tomoaki Kunitsu; Yoshihiro Maruo; Hirokazu Kanegane; Masatoshi Takagi; Kenichi Yoshida; Yusuke Okuno; Hideki Muramatsu; Yuichi Shiraishi; Kenichi Chiba; Hiroko Tanaka; Satoru Miyano; Seiji Kojima; Seishi Ogawa; Osamu Ohara; Satoshi Okada; Masao Kobayashi; Tomohiro Morio; Shigeaki Nonoyama
Journal: J Allergy Clin Immunol Date: 2016-07-14 Impact factor: 10.793

5. A human immunodeficiency caused by mutations in the PIK3R1 gene.

Authors: Marie-Céline Deau; Lucie Heurtier; Pierre Frange; Felipe Suarez; Christine Bole-Feysot; Patrick Nitschke; Marina Cavazzana; Capucine Picard; Anne Durandy; Alain Fischer; Sven Kracker
Journal: J Clin Invest Date: 2014-08-18 Impact factor: 14.808

Review 6. Synergy in activating class I PI3Ks.

Authors: John E Burke; Roger L Williams
Journal: Trends Biochem Sci Date: 2015-01-05 Impact factor: 13.807

7. Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome.

Authors: Sven Kracker; James Curtis; Mohammad A A Ibrahim; Anna Sediva; Jon Salisbury; Vit Campr; Marianne Debré; J David M Edgar; Kohsuke Imai; Capucine Picard; Jean-Laurent Casanova; Alain Fischer; Sergey Nejentsev; Anne Durandy
Journal: J Allergy Clin Immunol Date: 2014-04-01 Impact factor: 10.793

8. 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. Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.

Authors: Carrie L Lucas; Yu Zhang; Anthony Venida; Ying Wang; Jason Hughes; Joshua McElwee; Morgan Butrick; Helen Matthews; Susan Price; Matthew Biancalana; Xiaochuan Wang; Michael Richards; Tamara Pozos; Isil Barlan; Ahmet Ozen; V Koneti Rao; Helen C Su; Michael J Lenardo
Journal: J Exp Med Date: 2014-12-08 Impact factor: 14.307

10. Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.

Authors: Elodie Elkaim; Benedicte Neven; Julie Bruneau; Kanako Mitsui-Sekinaka; Aurelie Stanislas; Lucie Heurtier; Carrie L Lucas; Helen Matthews; Marie-Céline Deau; Svetlana Sharapova; James Curtis; Janine Reichenbach; Catherine Glastre; David A Parry; Gururaj Arumugakani; Elizabeth McDermott; Sara Sebnem Kilic; Motoi Yamashita; Despina Moshous; Hicham Lamrini; Burkhard Otremba; Andrew Gennery; Tanya Coulter; Isabella Quinti; Jean-Louis Stephan; Vassilios Lougaris; Nicholas Brodszki; Vincent Barlogis; Takaki Asano; Lionel Galicier; David Boutboul; Shigeaki Nonoyama; Andrew Cant; Kohsuke Imai; Capucine Picard; Sergey Nejentsev; Thierry Jo Molina; Michael Lenardo; Sinisa Savic; Marina Cavazzana; Alain Fischer; Anne Durandy; Sven Kracker
Journal: J Allergy Clin Immunol Date: 2016-04-21 Impact factor: 10.793

13 in total

Review 1. 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

2. Loss of ARHGEF1 causes a human primary antibody deficiency.

Authors: Amine Bouafia; Sébastien Lofek; Julie Bruneau; Loïc Chentout; Hicham Lamrini; Amélie Trinquand; Marie-Céline Deau; Lucie Heurtier; Véronique Meignin; Capucine Picard; Elizabeth Macintyre; Olivier Alibeu; Marc Bras; Thierry Jo Molina; Marina Cavazzana; Isabelle André-Schmutz; Anne Durandy; Alain Fischer; Eric Oksenhendler; Sven Kracker
Journal: J Clin Invest Date: 2019-02-04 Impact factor: 14.808

3. E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1.

Authors: Yanping Wang; Xuemei Chen; Qiuyun Yang; Wenjing Tang; Yanjun Jia; Lina Zhou; Yunfei An; Zhiyong Zhang; Xuemei Tang; Xiaodong Zhao
Journal: J Clin Immunol Date: 2020-01-17 Impact factor: 8.317

4. Exhaustion of the CD8⁺ T Cell Compartment in Patients with Mutations in Phosphoinositide 3-Kinase Delta.

Authors: Marjolein W J Wentink; Yvonne M Mueller; Virgil A S H Dalm; Gertjan J Driessen; P Martin van Hagen; Joris M van Montfrans; Mirjam van der Burg; Peter D Katsikis
Journal: Front Immunol Date: 2018-03-07 Impact factor: 7.561

Review 5. Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy.

Authors: David Michalovich; Sergey Nejentsev
Journal: Front Immunol Date: 2018-02-27 Impact factor: 7.561

Review 6. Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.

Authors: Cristiane de Jesus Nunes-Santos; Sergio D Rosenzweig
Journal: Front Immunol Date: 2018-06-22 Impact factor: 7.561

Review 7. 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 8. 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

Review 9. Molecular Mechanisms of Human Disease Mediated by Oncogenic and Primary Immunodeficiency Mutations in Class IA Phosphoinositide 3-Kinases.

Authors: Gillian L Dornan; John E Burke
Journal: Front Immunol Date: 2018-03-19 Impact factor: 7.561

Review 10. Respiratory Manifestations of the Activated Phosphoinositide 3-Kinase Delta Syndrome.

Authors: Alison M Condliffe; Anita Chandra
Journal: Front Immunol Date: 2018-03-05 Impact factor: 7.561