Literature DB >> 25831445

A human immunodeficiency caused by mutations in the PIK3R1 gene.

Marie-Céline Deau, Lucie Heurtier, Pierre Frange, Felipe Suarez, Christine Bole-Feysot, Patrick Nitschke, Marina Cavazzana, Capucine Picard, Anne Durandy, Alain Fischer, Sven Kracker.   

Abstract

Entities:  

Year:  2015        PMID： 25831445      PMCID： PMC4396486          DOI： 10.1172/JCI81746

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


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  16 in total

1.  Thyroid Carcinoma in a Child with Activated Phosphoinositide 3-Kinase δ Syndrome: Somatic Effect of a Germline Mutation.

Authors:  Giorgia Bucciol; Lien Willems; Esther Hauben; Anne Uyttebroeck; Marijke Proesmans; Isabelle Meyts
Journal:  J Clin Immunol       Date:  2017-06-11       Impact factor: 8.317

2.  Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1.

Authors:  Paoyun Tang; Julia E M Upton; Michelle A Barton-Forbes; Marina I Salvadori; Meghan P Clynick; April K Price; Sharan L Goobie
Journal:  J Clin Immunol       Date:  2017-11-25       Impact factor: 8.317

3.  Primary immunodeficiencies: novel genes and unusual presentations.

Authors:  Luigi D Notarangelo; Gulbu Uzel; V Koneti Rao
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2019-12-06

4.  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

5.  Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. A Retrospective Study of a Unique Patient Cohort.

Authors:  Chuen-Yen Lau; Andrew D Mihalek; Jing Wang; Lori E Dodd; Katie Perkins; Susan Price; Sharon Webster; Stefania Pittaluga; Les R Folio; V Koneti Rao; Kenneth N Olivier
Journal:  Ann Am Thorac Soc       Date:  2016-08

6.  Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

Authors:  Slavé Petrovski; Roberta E Parrott; Joseph L Roberts; Hongxiang Huang; Jialong Yang; Balachandra Gorentla; Talal Mousallem; Endi Wang; Martin Armstrong; Duncan McHale; Nancie J MacIver; David B Goldstein; Xiao-Ping Zhong; Rebecca H Buckley
Journal:  J Clin Immunol       Date:  2016-04-13       Impact factor: 8.317

Review 7.  Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature.

Authors:  Evelina Maines; Roberto Franceschi; Diego Martinelli; Fiorenza Soli; Francesca Romana Lepri; Giovanni Piccoli; Massimo Soffiati
Journal:  Hormones (Athens)       Date:  2021-04-20       Impact factor: 2.885

Review 8.  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

9.  The miR-26 family regulates early B cell development and transformation.

Authors:  Katharina Hutter; Silke E Lindner; Constanze Kurschat; Thomas Rülicke; Andreas Villunger; Sebastian Herzog
Journal:  Life Sci Alliance       Date:  2022-04-22

10.  BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.

Authors:  Behdad Afzali; Juha Grönholm; Jana Vandrovcova; Charlotte O'Brien; Hong-Wei Sun; Ine Vanderleyden; Fred P Davis; Ahmad Khoder; Yu Zhang; Ahmed N Hegazy; Alejandro V Villarino; Ira W Palmer; Joshua Kaufman; Norman R Watts; Majid Kazemian; Olena Kamenyeva; Julia Keith; Anwar Sayed; Dalia Kasperaviciute; Michael Mueller; Jason D Hughes; Ivan J Fuss; Mohammed F Sadiyah; Kim Montgomery-Recht; Joshua McElwee; Nicholas P Restifo; Warren Strober; Michelle A Linterman; Paul T Wingfield; Holm H Uhlig; Rahul Roychoudhuri; Timothy J Aitman; Peter Kelleher; Michael J Lenardo; John J O'Shea; Nichola Cooper; Arian D J Laurence
Journal:  Nat Immunol       Date:  2017-05-22       Impact factor: 25.606
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