Literature DB >> 32531373

Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.

Mathieu Fusaro1, Jérémie Rosain2, Virginie Grandin3, Nathalie Lambert3, Sylvain Hanein4, Cécile Fourrage5, Nicholas Renaud4, Marine Gil6, Samuel Chevalier3, Wadih Abou Chahla7, Brigitte Bader-Meunier8, Vincent Barlogis9, Stéphane Blanche8, David Boutboul10, Martin Castelle8, Thibault Comont11, Jean-Sébastien Diana8, Claire Fieschi12, Lionel Galicier10, Olivier Hermine13, Alain Lefèvre-Utile14, Marion Malphettes10, Etienne Merlin15, Eric Oksenhendler16, Marlène Pasquet17, Felipe Suarez18, Isabelle André19, Vivien Béziat20, Geneviève De Saint Basile21, Jean-Pierre De Villartay22, Sven Kracker19, Chantal Lagresle-Peyrou19, Sylvain Latour23, Frédéric Rieux-Laucat24, Nizar Mahlaoui25, Christine Bole4, Patrick Nitschke26, Elisabeth Hulier-Ammar4, Alain Fischer27, Despina Moshous28, Bénédicte Neven29, Alexandre Alcais20, Guillaume Vogt30, Jacinta Bustamante2, Capucine Picard31.   

Abstract

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Year:  2020        PMID： 32531373     DOI： 10.1016/j.jaci.2020.05.046

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


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  6 in total

1.  Trends in Pediatric Primary Immunodeficiency: Incidence, Utilization, Transplantation, and Mortality.

Authors:  Taylor Eddens; Molly Mack; Meghan McCormick; Hey Chong; Ramasubramanian Kalpatthi
Journal:  J Allergy Clin Immunol Pract       Date:  2021-10-27

2.  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

Review 3.  Current and Future Therapeutic Approaches for Thymic Stromal Cell Defects.

Authors:  Alexandra Y Kreins; Paola Bonfanti; E Graham Davies
Journal:  Front Immunol       Date:  2021-03-18       Impact factor: 7.561

4.  Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.

Authors:  Jessica Rojas-Restrepo; Andrés Caballero-Oteyza; Katrin Huebscher; Hanna Haberstroh; Manfred Fliegauf; Baerbel Keller; Robin Kobbe; Klaus Warnatz; Stephan Ehl; Michele Proietti; Bodo Grimbacher
Journal:  Front Immunol       Date:  2021-12-17       Impact factor: 7.561

5.  Primary Immunodeficiencies and Hematologic Malignancies: A Diagnostic Approach.

Authors:  Sharat Chandra; Tatiana Kalashnikova; Nicola A M Wright; Blachy J Dávila Saldaña
Journal:  Front Immunol       Date:  2022-03-18       Impact factor: 7.561

Review 6.  Germline STAT3 gain-of-function mutations in primary immunodeficiency: Impact on the cellular and clinical phenotype.

Authors:  Laura Faletti; Stephan Ehl; Maximilian Heeg
Journal:  Biomed J       Date:  2021-03-20       Impact factor: 4.910
  6 in total

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