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

Mathieu Fusaro; Jérémie Rosain; Virginie Grandin; Nathalie Lambert; Sylvain Hanein; Cécile Fourrage; Nicholas Renaud; Marine Gil; Samuel Chevalier; Wadih Abou Chahla; Brigitte Bader-Meunier; Vincent Barlogis; Stéphane Blanche; David Boutboul; Martin Castelle; Thibault Comont; Jean-Sébastien Diana; Claire Fieschi; Lionel Galicier; Olivier Hermine; Alain Lefèvre-Utile; Marion Malphettes; Etienne Merlin; Eric Oksenhendler; Marlène Pasquet; Felipe Suarez; Isabelle André; Vivien Béziat; Geneviève De Saint Basile; Jean-Pierre De Villartay; Sven Kracker; Chantal Lagresle-Peyrou; Sylvain Latour; Frédéric Rieux-Laucat; Nizar Mahlaoui; Christine Bole; Patrick Nitschke; Elisabeth Hulier-Ammar; Alain Fischer; Despina Moshous; Bénédicte Neven; Alexandre Alcais; Guillaume Vogt; Jacinta Bustamante; Capucine Picard

doi:10.1016/j.jaci.2020.05.046

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

J Allergy Clin Immunol. 2021 Feb;147(2):734-737. doi: 10.1016/j.jaci.2020.05.046. Epub 2020 Jun 10.

Authors

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

Affiliations

¹ University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, INSERM-UMR 1163, Paris, France.
² University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM-UMR 1163, Paris, France.
³ Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
⁴ INSERM-UMR 1163, Imagine Institute, Paris, France.
⁵ INSERM-UMR 1163, Imagine Institute, Paris, France; Bioinformatics Core Facility, INSERM-UMR 1163, Imagine Institute, Paris, France; Centre National de la Recherche Scientifique, Unité Mixte de Service 3633, INSERM, University of Paris, Paris, France.
⁶ University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France.
⁷ Department of Pediatric Hematology, Jeanne de Flandre Hospital, Lille, France.
⁸ Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
⁹ Department of Pediatric Hematology, La Timone Hospital, Marseille, France; French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France.
¹⁰ Department of Clinical Immunology, St-Louis Hospital, AP-HP, Paris, France.
¹¹ Department of Internal Medicine, Institut Universitaire du Cancer-Oncopôle, Toulouse, France.
¹² French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France; Department of Clinical Immunology, St-Louis Hospital, AP-HP, Paris, France.
¹³ University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France; Department of Adult Hematology, Necker Hospital for Sick Children, AP-HP, Paris, France.
¹⁴ Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; Department of General Pediatrics, Jean Verdier Hospital, AP-HP, Bondy, France.
¹⁵ Department of Pediatrics, Estaing Hospital, Clermont-Ferrand, France.
¹⁶ French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France; Department of Clinical Immunology, St-Louis Hospital, AP-HP, Paris, France; Paris Diderot University, Paris, France.
¹⁷ Pediatric Oncology Immunology Hematology Unit, Children Hospital, Toulouse, France.
¹⁸ University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France; Department of General Pediatrics, Jean Verdier Hospital, AP-HP, Bondy, France.
¹⁹ INSERM-UMR 1163, Imagine Institute, Paris, France; Laboratory of Human Lymphohematopoiesis, INSERM-UMR 1163, Paris, France.
²⁰ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM-UMR 1163, Paris, France; INSERM-UMR 1163, Imagine Institute, Paris, France.
²¹ University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM-UMR 1163, Paris, France.
²² INSERM-UMR 1163, Imagine Institute, Paris, France; Laboratory of Genome Dynamics in The Immune System, INSERM-UMR 1163, Paris, France.
²³ Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, INSERM-UMR 1163, Paris, France; INSERM-UMR 1163, Imagine Institute, Paris, France.
²⁴ INSERM-UMR 1163, Imagine Institute, Paris, France; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM-UMR 1163, Paris, France.
²⁵ Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France.
²⁶ INSERM-UMR 1163, Imagine Institute, Paris, France; Bioinformatics Core Facility, INSERM-UMR 1163, Imagine Institute, Paris, France.
²⁷ University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France; Collège de France, Paris, France.
²⁸ University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; Laboratory of Genome Dynamics in The Immune System, INSERM-UMR 1163, Paris, France.
²⁹ University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM-UMR 1163, Paris, France.
³⁰ Neglected Human Genetics Laboratory, INSERM, University of Paris, Paris, France; Institut Sapiens, Paris, France; Neglected Human Genetics Laboratory, Centre National de Recherche en Génomique Humaine-Le Commissariat à L'énergie Atomique et aux Énergies Alternatives, Evry, France.
³¹ University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, INSERM-UMR 1163, Paris, France; Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France.

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

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Child
Child, Preschool
Female
Guanine Nucleotide Exchange Factors / genetics*
High-Throughput Nucleotide Sequencing / methods*
Humans
I-kappa B Kinase / genetics*
Immunoglobulins / genetics*
Infant
Infant, Newborn
Male
Middle Aged
Mutation / genetics*
Primary Immunodeficiency Diseases / diagnosis*
Young Adult

Substances

DOCK8 protein, human
Guanine Nucleotide Exchange Factors
IKBKG protein, human
Immunoglobulins
I-kappa B Kinase