Literature DB >> 25512081

RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency.

Omar K Alkhairy1, Nima Rezaei2, Robert R Graham3, Hassan Abolhassani4, Stephan Borte5, Kjell Hultenby6, Chenglin Wu7, Asghar Aghamohammadi8, David A Williams9, Timothy W Behrens3, Lennart Hammarström7, Qiang Pan-Hammarström10.   

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Year:  2014        PMID: 25512081      PMCID: PMC4426222          DOI: 10.1016/j.jaci.2014.10.039

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


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  10 in total

1.  Biochemical and biological characterization of a human Rac2 GTPase mutant associated with phagocytic immunodeficiency.

Authors:  Y Gu; B Jia; F C Yang; M D'Souza; C E Harris; C W Derrow; Y Zheng; D A Williams
Journal:  J Biol Chem       Date:  2001-02-22       Impact factor: 5.157

2.  Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia.

Authors:  Deborah Accetta; Grant Syverson; Benedetta Bonacci; Sreelatha Reddy; Christine Bengtson; Jill Surfus; Ronald Harbeck; Anna Huttenlocher; William Grossman; John Routes; James Verbsky
Journal:  J Allergy Clin Immunol       Date:  2010-12-16       Impact factor: 10.793

3.  Clinical features of a human Rac2 mutation: a complex neutrophil dysfunction disease.

Authors:  A G Kurkchubasche; J A Panepinto; T F Tracy; G W Thurman; D R Ambruso
Journal:  J Pediatr       Date:  2001-07       Impact factor: 4.406

Review 4.  Variable phenotypic expression of mutations in genes of the immune system.

Authors:  Rebecca H Buckley
Journal:  J Clin Invest       Date:  2005-11       Impact factor: 14.808

Review 5.  Hematopoietic-specific Rho GTPases Rac2 and RhoH and human blood disorders.

Authors:  Anja Troeger; David A Williams
Journal:  Exp Cell Res       Date:  2013-07-11       Impact factor: 3.905

6.  Rac2, a hematopoiesis-specific Rho GTPase, specifically regulates mast cell protease gene expression in bone marrow-derived mast cells.

Authors:  Yi Gu; Michael C Byrne; Nivanka C Paranavitana; Bruce Aronow; Jamie E Siefring; Maria D'Souza; Heidi F Horton; Lawrence A Quilliam; David A Williams
Journal:  Mol Cell Biol       Date:  2002-11       Impact factor: 4.272

7.  Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency.

Authors:  D A Williams; W Tao; F Yang; C Kim; Y Gu; P Mansfield; J E Levine; B Petryniak; C W Derrow; C Harris; B Jia; Y Zheng; D R Ambruso; J B Lowe; S J Atkinson; M C Dinauer; L Boxer
Journal:  Blood       Date:  2000-09-01       Impact factor: 22.113

8.  Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.

Authors:  D R Ambruso; C Knall; A N Abell; J Panepinto; A Kurkchubasche; G Thurman; C Gonzalez-Aller; A Hiester; M deBoer; R J Harbeck; R Oyer; G L Johnson; D Roos
Journal:  Proc Natl Acad Sci U S A       Date:  2000-04-25       Impact factor: 11.205

9.  Critical roles for Rac1 and Rac2 GTPases in B cell development and signaling.

Authors:  Marita J Walmsley; Steen K T Ooi; Lucinda F Reynolds; Susan Harless Smith; Sandra Ruf; Anne Mathiot; Lesley Vanes; David A Williams; Michael P Cancro; Victor L J Tybulewicz
Journal:  Science       Date:  2003-10-17       Impact factor: 47.728

10.  Common variable immunodeficiency disorders: division into distinct clinical phenotypes.

Authors:  Helen Chapel; Mary Lucas; Martin Lee; Janne Bjorkander; David Webster; Bodo Grimbacher; Claire Fieschi; Vojtech Thon; Mohammad R Abedi; Lennart Hammarstrom
Journal:  Blood       Date:  2008-03-04       Impact factor: 22.113

  10 in total
  33 in total

1.  International Consensus Document (ICON): Common Variable Immunodeficiency Disorders.

Authors:  Francisco A Bonilla; Isil Barlan; Helen Chapel; Beatriz T Costa-Carvalho; Charlotte Cunningham-Rundles; M Teresa de la Morena; Francisco J Espinosa-Rosales; Lennart Hammarström; Shigeaki Nonoyama; Isabella Quinti; John M Routes; Mimi L K Tang; Klaus Warnatz
Journal:  J Allergy Clin Immunol Pract       Date:  2015-11-07

2.  Rac-mediated Stimulation of Phospholipase Cγ2 Amplifies B Cell Receptor-induced Calcium Signaling.

Authors:  Claudia Walliser; Kyrylo Tron; Karen Clauss; Orit Gutman; Andrei Yu Kobitski; Michael Retlich; Anja Schade; Carlheinz Röcker; Yoav I Henis; G Ulrich Nienhaus; Peter Gierschik
Journal:  J Biol Chem       Date:  2015-04-22       Impact factor: 5.157

Review 3.  RHO GTPases: from new partners to complex immune syndromes.

Authors:  Rana El Masri; Jérôme Delon
Journal:  Nat Rev Immunol       Date:  2021-02-05       Impact factor: 53.106

Review 4.  When Actin is Not Actin' Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders.

Authors:  Evelien G G Sprenkeler; Steven D S Webbers; Taco W Kuijpers
Journal:  J Innate Immun       Date:  2020-08-26       Impact factor: 7.349

Review 5.  Advances in clinical immunology in 2015.

Authors:  Javier Chinen; Luigi D Notarangelo; William T Shearer
Journal:  J Allergy Clin Immunol       Date:  2016-12       Impact factor: 10.793

6.  Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects.

Authors:  Amy P Hsu; Agnes Donkó; Megan E Arrington; Muthulekha Swamydas; Danielle Fink; Arundhoti Das; Omar Escobedo; Vincent Bonagura; Paul Szabolcs; Harry N Steinberg; Jenna Bergerson; Amanda Skoskiewicz; Melanie Makhija; Joie Davis; Ladan Foruraghi; Cindy Palmer; Ramsay L Fuleihan; Joseph A Church; Avinash Bhandoola; Michail S Lionakis; Sharon Campbell; Thomas L Leto; Douglas B Kuhns; Steven M Holland
Journal:  Blood       Date:  2019-02-05       Impact factor: 22.113

Review 7.  Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.

Authors:  Mingyan Fang; Hassan Abolhassani; Che Kang Lim; Jianguo Zhang; Lennart Hammarström
Journal:  J Clin Immunol       Date:  2016-03-18       Impact factor: 8.317

8.  Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis.

Authors:  Hassan Abolhassani; Fatemeh Kiaee; Marzieh Tavakol; Zahra Chavoshzadeh; Seyed Alireza Mahdaviani; Tooba Momen; Reza Yazdani; Gholamreza Azizi; Sima Habibi; Mohammad Gharagozlou; Masoud Movahedi; Amir Ali Hamidieh; Nasrin Behniafard; Mohammamd Nabavi; Mohammad Hassan Bemanian; Saba Arshi; Rasol Molatefi; Roya Sherkat; Afshin Shirkani; Reza Amin; Soheila Aleyasin; Reza Faridhosseini; Farahzad Jabbari-Azad; Iraj Mohammadzadeh; Javad Ghaffari; Alireza Shafiei; Arash Kalantari; Mahboubeh Mansouri; Mehrnaz Mesdaghi; Delara Babaie; Hamid Ahanchian; Maryam Khoshkhui; Habib Soheili; Mohammad Hossein Eslamian; Taher Cheraghi; Abbas Dabbaghzadeh; Mahmoud Tavassoli; Rasoul Nasiri Kalmarzi; Seyed Hamidreza Mortazavi; Sara Kashef; Hossein Esmaeilzadeh; Javad Tafaroji; Abbas Khalili; Fariborz Zandieh; Mahnaz Sadeghi-Shabestari; Sepideh Darougar; Fatemeh Behmanesh; Hedayat Akbari; Mohammadreza Zandkarimi; Farhad Abolnezhadian; Abbas Fayezi; Mojgan Moghtaderi; Akefeh Ahmadiafshar; Behzad Shakerian; Vahid Sajedi; Behrang Taghvaei; Mojgan Safari; Marzieh Heidarzadeh; Babak Ghalebaghi; Seyed Mohammad Fathi; Behzad Darabi; Saeed Bazregari; Nasrin Bazargan; Morteza Fallahpour; Alireza Khayatzadeh; Naser Javahertrash; Bahram Bashardoust; Mohammadali Zamani; Azam Mohsenzadeh; Sarehsadat Ebrahimi; Samin Sharafian; Ahmad Vosughimotlagh; Mitra Tafakoridelbari; Maziar Rahimi; Parisa Ashournia; Anahita Razaghian; Arezou Rezaei; Setareh Mamishi; Nima Parvaneh; Nima Rezaei; Lennart Hammarström; Asghar Aghamohammadi
Journal:  J Clin Immunol       Date:  2018-10-09       Impact factor: 8.317

9.  Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency.

Authors:  Hassan Abolhassani; Asghar Aghamohammadi; Mingyan Fang; Nima Rezaei; Chongyi Jiang; Xiao Liu; Qiang Pan-Hammarström; Lennart Hammarström
Journal:  Genet Med       Date:  2018-06-19       Impact factor: 8.822

Review 10.  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

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