Literature DB >> 30639347

Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry.

Nizar Mahlaoui1, Capucine Picard2, Perrine Bach3, Laurence Costes3, Virginie Courteille3, Anja Ranohavimparany3, Alexandre Alcaïs4, Jean-Philippe Jais5, Alain Fischer6.   

Abstract

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Year:  2019        PMID: 30639347     DOI: 10.1016/j.jaci.2018.12.994

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


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  6 in total

1.  Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited.

Authors:  Vincent Allain; Virginie Grandin; Véronique Meignin; Rémi Bertinchamp; David Boutboul; Claire Fieschi; Lionel Galicier; Laurence Gérard; Marion Malphettes; Jacinta Bustamante; Mathieu Fusaro; Nathalie Lambert; Jérémie Rosain; Christelle Lenoir; Sven Kracker; Frédéric Rieux-Laucat; Sylvain Latour; Jean-Pierre de Villartay; Capucine Picard; Eric Oksenhendler
Journal:  J Clin Immunol       Date:  2022-09-26       Impact factor: 8.542

2.  Nocardiosis Associated with Primary Immunodeficiencies (Nocar-DIP): an International Retrospective Study and Literature Review.

Authors:  Olivier Lortholary; Steven M Holland; Emmanuel Lafont; Beatriz E Marciano; Nizar Mahlaoui; Bénédicte Neven; Jacinta Bustamante; Veronica Rodriguez-Nava; Amit Rawat; Miren Josebe Unzaga; Alain Fischer; Stéphane Blanche; David Lebeaux
Journal:  J Clin Immunol       Date:  2020-09-12       Impact factor: 8.317

3.  EuroFlow-Based Flowcytometric Diagnostic Screening and Classification of Primary Immunodeficiencies of the Lymphoid System.

Authors:  Jacques J M van Dongen; Mirjam van der Burg; Tomas Kalina; Martin Perez-Andres; Ester Mejstrikova; Marcela Vlkova; Eduardo Lopez-Granados; Marjolein Wentink; Anne-Kathrin Kienzler; Jan Philippé; Ana E Sousa; Menno C van Zelm; Elena Blanco; Alberto Orfao
Journal:  Front Immunol       Date:  2019-06-13       Impact factor: 7.561

Review 4.  Hematopoietic Stem Cell Transplantation for Combined Immunodeficiencies, on Behalf of IEWP-EBMT.

Authors:  Benedicte Neven; Francesca Ferrua
Journal:  Front Pediatr       Date:  2020-01-24       Impact factor: 3.418

5.  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

6.  Primary Immunodeficiencies in Russia: Data From the National Registry.

Authors:  Anna A Mukhina; Natalya B Kuzmenko; Yulia A Rodina; Irina V Kondratenko; Andrei A Bologov; Tatiana V Latysheva; Andrei P Prodeus; Alexander N Pampura; Dmitrii N Balashov; Natalya I Ilyina; Elena A Latysheva; Ekaterina A Deordieva; Oksana A Shvets; Elena V Deripapa; Irina N Abramova; Olga E Pashenko; Svetlana S Vahlyarskaya; Natalya V Zinovyeva; Sergei B Zimin; Elena V Skorobogatova; Elena B Machneva; Daria S Fomina; Maria G Ipatova; Ludmila Yu Barycheva; Ludmila S Khachirova; Irina A Tuzankina; Michail A Bolkov; Natalya V Shakhova; Elena M Kamaltynova; Farida I Sibgatullina; Marina N Guseva; Raisa N Kuznetsova; Anzhelika M Milichkina; Areg A Totolian; Natalia M Kalinina; Evgenia A Goltsman; Ekatherina I Sulima; Anastasia Yu Kutlyanceva; Anna A Moiseeva; Anna L Khoreva; Zoya Nesterenko; Elena V Tymofeeva; A Ermakova; Dilyara D Proligina; Linara R Kalmetieva; Gulshat A Davletbaieva; Irina A Mirsayapova; Olga A Richkova; Ksenia P Kuzmicheva; Maria A Grakhova; Natalya B Yudina; Ekaterina A Orlova; Olga S Selezneva; Svetlana G Piskunova; Tatiana V Samofalova; Tatiana V Bukina; Anna D Pechkurova; N Migacheva; A Zhestkov; Elena V Barmina; Natalya A Parfenova; Svetlana N Isakova; Elena V Averina; Irina V Sazonova; Svetlana Yu Starikova; Tatiana V Shilova; Tatiana V Asekretova; Roman N Suprun; Elena I Kleshchenko; Vladimir V Lebedev; Elena V Demikhova; Valerii G Demikhov; Veronica A Kalinkina; Alla V Gorenkova; Svetlana N Duryagina; Tatiana B Pavlova; Vera M Shinkareva; Irina V Smoleva; Tatiana P Aleksandrova; Zema V Bambaeva; Marina A Philippova; Elena M Gracheva; Galina I Tcyvkina; Alexey V Efremenkov; D Mashkovskaya; Irina V Yarovaya; Valentina A Alekseenko; Ivan V Fisyun; Galina V Molokova; Ekatherina V Troitskya; Ludmila I Piatkina; Elena V Vlasova; O Ukhanova; Ekaterina G Chernishova; M Vasilieva; Olga M Laba; E Volodina; Ekaterina V Safonova; Kirill A Voronin; Maria V Gurkina; Alexander G Rumyantsev; Galina A Novichkova; Anna Yu Shcherbina
Journal:  Front Immunol       Date:  2020-08-06       Impact factor: 7.561

  6 in total

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