Literature DB >> 35080321

Congenital and acquired defects of immunity: An ever-evolving story.

Riccardo Castagnoli1,2,3,4, Ottavia M Delmonte1, Luigi D Notarangelo1.   

Abstract

Inborn errors of immunity (IEI), also referred to as primary immunodeficiencies (PID), are disorders that, for the most part, result from mutations in genes involved in immune host defense and immune regulation. With the increased availability of high-throughput DNA sequencing and improved genomic data interpretation, the number of newly identified genes associated with IEI has exponentially increased over the last decade. Here, we focus on the newly described IEI associated with severe COVID-19 and SASH3 deficiency, the most recently reported IEI with impaired T-cell receptor (TCR) signaling.
© 2022 European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd. This article has been contributed to by US Government employees and their work is in the public domain in the USA.

Entities:  

Keywords:  inborn errors of immunity; new monogenic diseases of immunity; primary immunodeficiency disorders

Mesh:

Year:  2022        PMID: 35080321      PMCID: PMC9284288          DOI: 10.1111/pai.13632

Source DB:  PubMed          Journal:  Pediatr Allergy Immunol        ISSN: 0905-6157            Impact factor:   5.464


  10 in total

1.  SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.

Authors:  Ottavia M Delmonte; Jenna R E Bergerson; Tomoki Kawai; Hye Sun Kuehn; David H McDermott; Irene Cortese; Michael T Zimmermann; A Kerry Dobbs; Marita Bosticardo; Danielle Fink; Shamik Majumdar; Boaz Palterer; Francesca Pala; Nikita R Dsouza; Marie Pouzolles; Naomi Taylor; Katherine R Calvo; Stephen R Daley; Daniel Velez; Anahita Agharahimi; Katherine Myint-Hpu; Lesia K Dropulic; Jonathan J Lyons; Steven M Holland; Alexandra F Freeman; Rajarshi Ghosh; Morgan B Similuk; Julie E Niemela; Jennifer Stoddard; Douglas B Kuhns; Raul Urrutia; Sergio D Rosenzweig; Magdalena A Walkiewicz; Philip M Murphy; Luigi D Notarangelo
Journal:  Blood       Date:  2021-09-23       Impact factor: 25.476

2.  Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine.

Authors:  Eleftherios Michailidis; Hans-Heinrich Hoffmann; Marwa Chbihi; Stephen J Seligman; Qian Zhang; Margaret R MacDonald; Emmanuelle Jouanguy; Charles M Rice; Jean-Laurent Casanova; Paul Bastard; Tom Le Voyer; Jérémie Rosain; Quentin Philippot; Yoann Seeleuthner; Adrian Gervais; Marie Materna; Patricia Mouta Nunes de Oliveira; Maria de Lourdes S Maia; Ana Paula Dinis Ano Bom; Tamiris Azamor; Deborah Araújo da Conceição; Ekaterini Goudouris; Akira Homma; Günther Slesak; Johannes Schäfer; Bali Pulendran; Joseph D Miller; Ralph Huits; Rui Yang; Lindsey B Rosen; Lucy Bizien; Lazaro Lorenzo; Maya Chrabieh; Lucia V Erazo; Flore Rozenberg; Mohamed Maxime Jeljeli; Vivien Béziat; Steven M Holland; Aurélie Cobat; Luigi D Notarangelo; Helen C Su; Rafi Ahmed; Anne Puel; Shen-Ying Zhang; Laurent Abel
Journal:  J Exp Med       Date:  2021-04-05       Impact factor: 14.307

Review 3.  The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.

Authors:  Stuart G Tangye; Waleed Al-Herz; Aziz Bousfiha; Charlotte Cunningham-Rundles; Jose Luis Franco; Steven M Holland; Christoph Klein; Tomohiro Morio; Eric Oksenhendler; Capucine Picard; Anne Puel; Jennifer Puck; Mikko R J Seppänen; Raz Somech; Helen C Su; Kathleen E Sullivan; Troy R Torgerson; Isabelle Meyts
Journal:  J Clin Immunol       Date:  2021-02-18       Impact factor: 8.317

4.  Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1.

Authors:  Paul Bastard; Elizaveta Orlova; Leila Sozaeva; Romain Lévy; Alyssa James; Monica M Schmitt; Sebastian Ochoa; Maria Kareva; Yulia Rodina; Adrian Gervais; Tom Le Voyer; Jérémie Rosain; Quentin Philippot; Anna-Lena Neehus; Elana Shaw; Mélanie Migaud; Lucy Bizien; Olov Ekwall; Stefan Berg; Guglielmo Beccuti; Lucia Ghizzoni; Gérard Thiriez; Arthur Pavot; Cécile Goujard; Marie-Louise Frémond; Edwin Carter; Anya Rothenbuhler; Agnès Linglart; Brigite Mignot; Aurélie Comte; Nathalie Cheikh; Olivier Hermine; Lars Breivik; Eystein S Husebye; Sébastien Humbert; Pierre Rohrlich; Alain Coaquette; Fanny Vuoto; Karine Faure; Nizar Mahlaoui; Primož Kotnik; Tadej Battelino; Katarina Trebušak Podkrajšek; Kai Kisand; Elise M N Ferré; Thomas DiMaggio; Lindsey B Rosen; Peter D Burbelo; Martin McIntyre; Nelli Y Kann; Anna Shcherbina; Maria Pavlova; Anna Kolodkina; Steven M Holland; Shen-Ying Zhang; Yanick J Crow; Luigi D Notarangelo; Helen C Su; Laurent Abel; Mark S Anderson; Emmanuelle Jouanguy; Bénédicte Neven; Anne Puel; Jean-Laurent Casanova; Michail S Lionakis
Journal:  J Exp Med       Date:  2021-07-05       Impact factor: 14.307

5.  Autoantibodies against type I interferons are associated with multi-organ failure in COVID-19 patients.

Authors:  Rutger Koning; Paul Bastard; Jean-Laurent Casanova; Matthijs C Brouwer; Diederik van de Beek
Journal:  Intensive Care Med       Date:  2021-04-09       Impact factor: 17.440

Review 6.  Human inborn errors of immunity: An expanding universe.

Authors:  Luigi D Notarangelo; Rosa Bacchetta; Jean-Laurent Casanova; Helen C Su
Journal:  Sci Immunol       Date:  2020-07-10

7.  Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Authors:  Stuart G Tangye; Waleed Al-Herz; Aziz Bousfiha; Talal Chatila; Charlotte Cunningham-Rundles; Amos Etzioni; Jose Luis Franco; Steven M Holland; Christoph Klein; Tomohiro Morio; Hans D Ochs; Eric Oksenhendler; Capucine Picard; Jennifer Puck; Troy R Torgerson; Jean-Laurent Casanova; Kathleen E Sullivan
Journal:  J Clin Immunol       Date:  2020-01-17       Impact factor: 8.317

8.  Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Authors:  Paul Bastard; Zhiyong Liu; Jérémie Le Pen; Marcela Moncada-Velez; Jie Chen; Masato Ogishi; Ira K D Sabli; Stephanie Hodeib; Cecilia Korol; Jérémie Rosain; Kaya Bilguvar; Junqiang Ye; Alexandre Bolze; Benedetta Bigio; Rui Yang; Andrés Augusto Arias; Qinhua Zhou; Yu Zhang; Richard P Lifton; Shen-Ying Zhang; Guy Gorochov; Vivien Béziat; Emmanuelle Jouanguy; Vanessa Sancho-Shimizu; Charles M Rice; Laurent Abel; Luigi D Notarangelo; Aurélie Cobat; Helen C Su; Jean-Laurent Casanova; Qian Zhang; Fanny Onodi; Sarantis Korniotis; Léa Karpf; Quentin Philippot; Marwa Chbihi; Lucie Bonnet-Madin; Karim Dorgham; Nikaïa Smith; William M Schneider; Brandon S Razooky; Hans-Heinrich Hoffmann; Eleftherios Michailidis; Leen Moens; Ji Eun Han; Lazaro Lorenzo; Lucy Bizien; Philip Meade; Anna-Lena Neehus; Aileen Camille Ugurbil; Aurélien Corneau; Gaspard Kerner; Peng Zhang; Franck Rapaport; Yoann Seeleuthner; Jeremy Manry; Cecile Masson; Yohann Schmitt; Agatha Schlüter; Tom Le Voyer; Taushif Khan; Juan Li; Jacques Fellay; Lucie Roussel; Mohammad Shahrooei; Mohammed F Alosaimi; Davood Mansouri; Haya Al-Saud; Fahd Al-Mulla; Feras Almourfi; Saleh Zaid Al-Muhsen; Fahad Alsohime; Saeed Al Turki; Rana Hasanato; Diederik van de Beek; Andrea Biondi; Laura Rachele Bettini; Mariella D'Angio'; Paolo Bonfanti; Luisa Imberti; Alessandra Sottini; Simone Paghera; Eugenia Quiros-Roldan; Camillo Rossi; Andrew J Oler; Miranda F Tompkins; Camille Alba; Isabelle Vandernoot; Jean-Christophe Goffard; Guillaume Smits; Isabelle Migeotte; Filomeen Haerynck; Pere Soler-Palacin; Andrea Martin-Nalda; Roger Colobran; Pierre-Emmanuel Morange; Sevgi Keles; Fatma Çölkesen; Tayfun Ozcelik; Kadriye Kart Yasar; Sevtap Senoglu; Şemsi Nur Karabela; Carlos Rodríguez-Gallego; Giuseppe Novelli; Sami Hraiech; Yacine Tandjaoui-Lambiotte; Xavier Duval; Cédric Laouénan; Andrew L Snow; Clifton L Dalgard; Joshua D Milner; Donald C Vinh; Trine H Mogensen; Nico Marr; András N Spaan; Bertrand Boisson; Stéphanie Boisson-Dupuis; Jacinta Bustamante; Anne Puel; Michael J Ciancanelli; Isabelle Meyts; Tom Maniatis; Vassili Soumelis; Ali Amara; Michel Nussenzweig; Adolfo García-Sastre; Florian Krammer; Aurora Pujol; Darragh Duffy
Journal:  Science       Date:  2020-09-24       Impact factor: 47.728

9.  Neutralizing type-I interferon autoantibodies are associated with delayed viral clearance and intensive care unit admission in patients with COVID-19.

Authors:  Michael S Abers; Lindsey B Rosen; Ottavia M Delmonte; Elana Shaw; Paul Bastard; Luisa Imberti; Virginia Quaresima; Andrea Biondi; Paolo Bonfanti; Riccardo Castagnoli; Jean-Laurent Casanova; Helen C Su; Luigi D Notarangelo; Steven M Holland; Michail S Lionakis
Journal:  Immunol Cell Biol       Date:  2021-08-08       Impact factor: 5.853

10.  Autoantibodies against type I IFNs in patients with life-threatening COVID-19.

Authors:  Paul Bastard; Lindsey B Rosen; Qian Zhang; Eleftherios Michailidis; Hans-Heinrich Hoffmann; Yu Zhang; Karim Dorgham; Quentin Philippot; Jérémie Rosain; Vivien Béziat; Steven M Holland; Guy Gorochov; Emmanuelle Jouanguy; Charles M Rice; Aurélie Cobat; Luigi D Notarangelo; Laurent Abel; Helen C Su; Jean-Laurent Casanova; Jérémy Manry; Elana Shaw; Liis Haljasmägi; Pärt Peterson; Lazaro Lorenzo; Lucy Bizien; Sophie Trouillet-Assant; Kerry Dobbs; Adriana Almeida de Jesus; Alexandre Belot; Anne Kallaste; Emilie Catherinot; Yacine Tandjaoui-Lambiotte; Jeremie Le Pen; Gaspard Kerner; Benedetta Bigio; Yoann Seeleuthner; Rui Yang; Alexandre Bolze; András N Spaan; Ottavia M Delmonte; Michael S Abers; Alessandro Aiuti; Giorgio Casari; Vito Lampasona; Lorenzo Piemonti; Fabio Ciceri; Kaya Bilguvar; Richard P Lifton; Marc Vasse; David M Smadja; Mélanie Migaud; Jérome Hadjadj; Benjamin Terrier; Darragh Duffy; Lluis Quintana-Murci; Diederik van de Beek; Lucie Roussel; Donald C Vinh; Stuart G Tangye; Filomeen Haerynck; David Dalmau; Javier Martinez-Picado; Petter Brodin; Michel C Nussenzweig; Stéphanie Boisson-Dupuis; Carlos Rodríguez-Gallego; Guillaume Vogt; Trine H Mogensen; Andrew J Oler; Jingwen Gu; Peter D Burbelo; Jeffrey I Cohen; Andrea Biondi; Laura Rachele Bettini; Mariella D'Angio; Paolo Bonfanti; Patrick Rossignol; Julien Mayaux; Frédéric Rieux-Laucat; Eystein S Husebye; Francesca Fusco; Matilde Valeria Ursini; Luisa Imberti; Alessandra Sottini; Simone Paghera; Eugenia Quiros-Roldan; Camillo Rossi; Riccardo Castagnoli; Daniela Montagna; Amelia Licari; Gian Luigi Marseglia; Xavier Duval; Jade Ghosn; John S Tsang; Raphaela Goldbach-Mansky; Kai Kisand; Michail S Lionakis; Anne Puel; Shen-Ying Zhang
Journal:  Science       Date:  2020-09-24       Impact factor: 63.714

  10 in total

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