Literature DB >> 33090293

A Novel CYBB Variant Causing X-Linked Chronic Granulomatous Disease in a Patient with Empyema.

Maleewan Kitcharoensakkul1, Zhimin Song2, Jeffrey J Bednarski2, Mary Dinauer2,3.   

Abstract

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Year:  2020        PMID: 33090293     DOI: 10.1007/s10875-020-00897-1

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN: 0271-9142            Impact factor:   8.317


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  9 in total

Review 1.  Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Authors:  Dirk Roos; Douglas B Kuhns; Anne Maddalena; Joachim Roesler; Juan Alvaro Lopez; Tadashi Ariga; Tadej Avcin; Martin de Boer; Jacinta Bustamante; Antonio Condino-Neto; Gigliola Di Matteo; Jianxin He; Harry R Hill; Steven M Holland; Caroline Kannengiesser; M Yavuz Köker; Irina Kondratenko; Karin van Leeuwen; Harry L Malech; László Marodi; Hiroyuki Nunoi; Marie-José Stasia; Anna Maria Ventura; Carl T Witwer; Baruch Wolach; John I Gallin
Journal:  Blood Cells Mol Dis       Date:  2010-08-21       Impact factor: 3.039

Review 2.  A Comprehensive Approach to the Management of Children and Adults with Chronic Granulomatous Disease.

Authors:  Isaac P Thomsen; Meaghan A Smith; Steven M Holland; C Buddy Creech
Journal:  J Allergy Clin Immunol Pract       Date:  2016-05-10

3.  A single-center experience using alemtuzumab, fludarabine, melphalan, and thiotepa as conditioning for transplantation in pediatric patients with chronic granulomatous disease.

Authors:  Sima T Bhatt; Ginny Schulz; Monica Hente; Ashley Slater; Lisa Murray; Shalini Shenoy; Jeffrey J Bednarski
Journal:  Pediatr Blood Cancer       Date:  2019-10-10       Impact factor: 3.167

4.  Crystal structures and atomic model of NADPH oxidase.

Authors:  Francesca Magnani; Simone Nenci; Elisa Millana Fananas; Marta Ceccon; Elvira Romero; Marco W Fraaije; Andrea Mattevi
Journal:  Proc Natl Acad Sci U S A       Date:  2017-06-12       Impact factor: 11.205

5.  A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.

Authors:  Juan D Matute; Andres A Arias; Nicola A M Wright; Iwona Wrobel; Christopher C M Waterhouse; Xing Jun Li; Christophe C Marchal; Natalie D Stull; David B Lewis; MacGregor Steele; James D Kellner; Weiming Yu; Samy O Meroueh; William M Nauseef; Mary C Dinauer
Journal:  Blood       Date:  2009-08-19       Impact factor: 22.113

6.  Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study.

Authors:  Tayfun Güngör; Pierre Teira; Mary Slatter; Georg Stussi; Polina Stepensky; Despina Moshous; Clementien Vermont; Imran Ahmad; Peter J Shaw; José Marcos Telles da Cunha; Paul G Schlegel; Rachel Hough; Anders Fasth; Karim Kentouche; Bernd Gruhn; Juliana F Fernandes; Silvy Lachance; Robbert Bredius; Igor B Resnick; Bernd H Belohradsky; Andrew Gennery; Alain Fischer; H Bobby Gaspar; Urs Schanz; Reinhard Seger; Katharina Rentsch; Paul Veys; Elie Haddad; Michael H Albert; Moustapha Hassan
Journal:  Lancet       Date:  2013-10-23       Impact factor: 79.321

7.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

Review 8.  Chronic Granulomatous Disease: Epidemiology, Pathophysiology, and Genetic Basis of Disease.

Authors:  N L Rider; M B Jameson; C B Creech
Journal:  J Pediatric Infect Dis Soc       Date:  2018-05-09       Impact factor: 3.164

  9 in total

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