Literature DB >> 30312704

EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease.

David C Thomas1, Louis-Marie Charbonnier2, Andrea Schejtman3, Hasan Aldhekri4, Eve L Coomber5, Elizabeth R Dufficy6, Anne E Beenken6, James C Lee6, Simon Clare5, Anneliese O Speak5, Adrian J Thrasher3, Giorgia Santilli3, Hamoud Al-Mousa7, Fowzan S Alkuraya8, Talal A Chatila2, Kenneth G C Smith9.   

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Year:  2018        PMID： 30312704      PMCID： PMC6490677          DOI： 10.1016/j.jaci.2018.09.019

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


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  6 in total

Review 1.  How neutrophils kill microbes.

Authors:  Anthony W Segal
Journal:  Annu Rev Immunol       Date:  2005       Impact factor: 28.527

2.  Hemophagocytic lymphohistiocytosis in children with chronic granulomatous disease.

Authors:  Chintan Parekh; Thomas Hofstra; Joseph A Church; Thomas D Coates
Journal:  Pediatr Blood Cancer       Date:  2010-11-11       Impact factor: 3.167

3.  Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

Authors:  Francesca Conti; Saul Oswaldo Lugo-Reyes; Lizbeth Blancas Galicia; Jianxin He; Güzide Aksu; Edgar Borges de Oliveira; Caroline Deswarte; Marjorie Hubeau; Neslihan Karaca; Maylis de Suremain; Antoine Guérin; Laila Ait Baba; Carolina Prando; Gloria G Guerrero; Melike Emiroglu; Fatma Nur Öz; Marco Antonio Yamazaki Nakashimada; Edith Gonzalez Serrano; Sara Espinosa; Isil Barlan; Nestor Pérez; Lorena Regairaz; Héctor Eduardo Guidos Morales; Liliana Bezrodnik; Daniela Di Giovanni; Ghassan Dbaibo; Fatima Ailal; Miguel Galicchio; Matias Oleastro; Jalel Chemli; Silvia Danielian; Laura Perez; Maria Claudia Ortega; Susana Soto Lavin; Joseph Hertecant; Ozden Anal; Nadia Kechout; Eman Al-Idrissi; Gehad ElGhazali; Anastasia Bondarenko; Liudmyla Chernyshova; Peter Ciznar; Rose-Marie Herbigneaux; Aminata Diabate; Stéphanie Ndaga; Barik Konte; Ambre Czarna; Mélanie Migaud; Sigifredo Pedraza-Sánchez; Mussaret Bano Zaidi; Guillaume Vogt; Stéphane Blanche; Imen Benmustapha; Davood Mansouri; Laurent Abel; Stéphanie Boisson-Dupuis; Nizar Mahlaoui; Ahmed Aziz Bousfiha; Capucine Picard; Ridha Barbouche; Saleh Al-Muhsen; Francisco J Espinosa-Rosales; Necil Kütükçüler; Antonio Condino-Neto; Jean-Laurent Casanova; Jacinta Bustamante
Journal:  J Allergy Clin Immunol       Date:  2016-02-28       Impact factor: 10.793

4.  The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Authors:  Dorota Monies; Mohamed Abouelhoda; Moeenaldeen AlSayed; Zuhair Alhassnan; Maha Alotaibi; Husam Kayyali; Mohammed Al-Owain; Ayaz Shah; Zuhair Rahbeeni; Mohammad A Al-Muhaizea; Hamad I Alzaidan; Edward Cupler; Saeed Bohlega; Eissa Faqeih; Maha Faden; Banan Alyounes; Dyala Jaroudi; Ewa Goljan; Hadeel Elbardisy; Asma Akilan; Renad Albar; Hesham Aldhalaan; Shamshad Gulab; Aziza Chedrawi; Bandar K Al Saud; Wesam Kurdi; Nawal Makhseed; Tahani Alqasim; Heba Y El Khashab; Hamoud Al-Mousa; Amal Alhashem; Imaduddin Kanaan; Talal Algoufi; Khalid Alsaleem; Talal A Basha; Fathiya Al-Murshedi; Sameena Khan; Adila Al-Kindy; Maha Alnemer; Sami Al-Hajjar; Suad Alyamani; Hasan Aldhekri; Ali Al-Mehaidib; Rand Arnaout; Omar Dabbagh; Mohammad Shagrani; Dieter Broering; Maha Tulbah; Amal Alqassmi; Maisoon Almugbel; Mohammed AlQuaiz; Abdulaziz Alsaman; Khalid Al-Thihli; Raashda A Sulaiman; Wajeeh Al-Dekhail; Abeer Alsaegh; Fahad A Bashiri; Alya Qari; Suzan Alhomadi; Hisham Alkuraya; Mohammed Alsebayel; Muddathir H Hamad; Laszlo Szonyi; Faisal Abaalkhail; Sulaiman M Al-Mayouf; Hamad Almojalli; Khalid S Alqadi; Hussien Elsiesy; Taghreed M Shuaib; Mohammed Zain Seidahmed; Ibraheem Abosoudah; Hana Akleh; Abdulaziz AlGhonaium; Turki M Alkharfy; Fuad Al Mutairi; Wafa Eyaid; Abdullah Alshanbary; Farrukh R Sheikh; Fahad I Alsohaibani; Abdullah Alsonbul; Saeed Al Tala; Soher Balkhy; Randa Bassiouni; Ahmed S Alenizi; Maged H Hussein; Saeed Hassan; Mohamed Khalil; Brahim Tabarki; Saad Alshahwan; Amira Oshi; Yasser Sabr; Saad Alsaadoun; Mustafa A Salih; Sarar Mohamed; Habiba Sultana; Abdullah Tamim; Moayad El-Haj; Saif Alshahrani; Dalal K Bubshait; Majid Alfadhel; Tariq Faquih; Mohamed El-Kalioby; Shazia Subhani; Zeeshan Shah; Nabil Moghrabi; Brian F Meyer; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2017-06-09       Impact factor: 4.132

5.  Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity.

Authors:  David C Thomas; Simon Clare; John M Sowerby; Mercedes Pardo; Jatinder K Juss; David A Goulding; Louise van der Weyden; Daniel Storisteanu; Ananth Prakash; Marion Espéli; Shaun Flint; James C Lee; Kim Hoenderdos; Leanne Kane; Katherine Harcourt; Subhankar Mukhopadhyay; Yagnesh Umrania; Robin Antrobus; James A Nathan; David J Adams; Alex Bateman; Jyoti S Choudhary; Paul A Lyons; Alison M Condliffe; Edwin R Chilvers; Gordon Dougan; Kenneth G C Smith
Journal:  J Exp Med       Date:  2017-03-28       Impact factor: 14.307

6.  Chronic granulomatous disease: the European experience.

Authors:  J Merlijn van den Berg; Elsbeth van Koppen; Anders Ahlin; Bernd H Belohradsky; Ewa Bernatowska; Lucien Corbeel; Teresa Español; Alain Fischer; Magdalena Kurenko-Deptuch; Richard Mouy; Theoni Petropoulou; Joachim Roesler; Reinhard Seger; Marie-José Stasia; Niels H Valerius; Ron S Weening; Baruch Wolach; Dirk Roos; Taco W Kuijpers
Journal:  PLoS One       Date:  2009-04-21       Impact factor: 3.240
  6 in total
  17 in total

Review 1.  Inflammatory consequences of inherited disorders affecting neutrophil function.

Authors:  Mary C Dinauer
Journal:  Blood       Date:  2019-03-21       Impact factor: 22.113

Review 2.  Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.

Authors:  Laura Pöyhönen; Jacinta Bustamante; Jean-Laurent Casanova; Emmanuelle Jouanguy; Qian Zhang
Journal:  J Clin Immunol       Date:  2019-05-23       Impact factor: 8.317

3.  The phagocyte NOX2 NADPH oxidase in microbial killing and cell signaling.

Authors:  William M Nauseef
Journal:  Curr Opin Immunol       Date:  2019-07-11       Impact factor: 7.486

Review 4.  Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature.

Authors:  Antonio Marzollo; Francesca Conti; Andrea Finocchi; Silvia Bresolin; Linda Rossini; Beatrice Rivalta; Lucia Leonardi; Caterina Tretti; Francesca Tosato; Maria Chiriaco; Giorgiana Madalina Ursu; Cristina Tea Natalucci; Maddalena Martella; Alessandro Borghesi; Cecilia Mancini; Andrea Ciolfi; Gigliola di Matteo; Marco Tartaglia; Caterina Cancrini; Andrea Dotta; Alessandra Biffi
Journal:  J Clin Immunol       Date:  2021-10-31       Impact factor: 8.317

5.  Clinical Features of Female Taiwanese Carriers with X-linked Chronic Granulomatous Disease from 2004 to 2019.

Authors:  Wen-I Lee; Cheng-Hsun Chiu; Chao-Yi Wu; Yi-Ching Chen; Jing-Long Huang; Li-Chen Chen; Liang-Shiou Ou; Tsung-Chieh Yao; Tang-Her Jaing; Shih-Hsiang Chen; Chi-Jou Liang; Chen-Chen Kang
Journal:  J Clin Immunol       Date:  2021-05-08       Impact factor: 8.317

Review 6.  From Flies to Men: ROS and the NADPH Oxidase in Phagocytes.

Authors:  Zohreh Mansoori Moghadam; Philipp Henneke; Julia Kolter
Journal:  Front Cell Dev Biol       Date:  2021-03-26

7.  Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.

Authors:  M Mollin; S Beaumel; B Vigne; J Brault; N Roux-Buisson; J Rendu; V Barlogis; G Catho; C Dumeril; F Fouyssac; D Monnier; V Gandemer; M Revest; J-P Brion; C Bost-Bru; E Jeziorski; L Eitenschenck; C Jarrasse; S Drillon Haus; M Houachée-Chardin; M Hancart; G Michel; Y Bertrand; D Plantaz; J Kelecic; R Traberg; L Kainulainen; J Fauré; F Fieschi; M J Stasia
Journal:  Clin Exp Immunol       Date:  2020-10-12       Impact factor: 4.330

Review 8.  Chronic Granulomatous Disease: a Comprehensive Review.

Authors:  Hsin-Hui Yu; Yao-Hsu Yang; Bor-Luen Chiang
Journal:  Clin Rev Allergy Immunol       Date:  2021-10       Impact factor: 8.667

9.  Impaired respiratory burst contributes to infections in PKCδ-deficient patients.

Authors:  Kunihiko Moriya; Alejandro Nieto-Patlán; Figen Dogu; Sule Haskologlu; Erdal İnce; Jamel El-Benna; Gulbu Uzel; Ayca Kiykim; Kaan Boztug; Marion R Roderick; Mohammad Shahrooei; Paul A Brogan; Hassan Abolhassani; Gonca Hancioglu; Nima Parvaneh; Alexandre Belot; Aydan Ikinciogullari; Jean-Laurent Casanova; Anne Puel; Jacinta Bustamante; Anna-Lena Neehus; Tom Le Voyer; Romain Lévy; Ahmet Özen; Elif Karakoc-Aydiner; Safa Baris; Alisan Yildiran; Engin Altundag; Manon Roynard; Kathrin Haake; Mélanie Migaud; Karim Dorgham; Guy Gorochov; Laurent Abel; Nico Lachmann
Journal:  J Exp Med       Date:  2021-07-15       Impact factor: 14.307

Review 10.  Mycobacterial diseases in patients with inborn errors of immunity.

Authors:  Stéphanie Boisson-Dupuis; Jacinta Bustamante
Journal:  Curr Opin Immunol       Date:  2021-07-24       Impact factor: 7.268
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