Results 71 to 80 of about 15,070 (233)

Exome and genome sequencing for inborn errors of immunity [PDF]

Journal of Allergy and Clinical Immunology, 2016
The advent of next-generation sequencing (NGS) in 2010 has transformed medicine, particularly the growing field of inborn errors of immunity. NGS has facilitated the discovery of novel disease-causing genes and the genetic diagnosis of patients with monogenic inborn errors of immunity.
Yuval Itan, Capucine Picard, Xavier Bossuyt, Leen Moens, Isabelle Meyts, Jean-Laurent Casanova, Aurélie Cobat, Aurélie Cobat, Laurent Abel, Laurent Abel, Laurent Abel, Alexandre Bolze, Aziz Belkadi, Aziz Belkadi, Barbara Bosch, Barbara Bosch, Bertrand Boisson, Bertrand Boisson, Bertrand Boisson, Vincent Pedergnana, Vincent Pedergnana, Vincent Pedergnana   +21 more
openaire   +4 more sources

Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs

The Journal of Clinical Investigation, 2023
Since 2003, rare inborn errors of human type I IFN immunity have been discovered, each underlying a few severe viral illnesses. Autoantibodies neutralizing type I IFNs due to rare inborn errors of autoimmune regulator (AIRE)–driven T cell tolerance were ...
Jean-Laurent Casanova, Mark S. Anderson
doaj   +1 more source

TYK2-induced phosphorylation of Y640 suppresses STAT3 transcriptional activity [PDF]

, 2017
STAT3 is a pleiotropic transcription factor involved in homeostatic and host defense processes in the human body. It is activated by numerous cytokines and growth factors and generates a series of cellular effects.
De Bosscher, Karolien, De Cauwer, Lode, Icardi, Laura, Mori, Raffaele, Peelman, Frank, Tavernier, Jan, Van Der Heyden, José, Wauman, Joris   +7 more
core   +3 more sources

Consanguinity and polygenic diseases: a model for antibody deficiencies [PDF]

, 2014
Primary immunodeficiencies represent a heterogeneous group of disorders of the immune system, predisposing to various types of infections. Among them, common variable immunodeficiency is the most common symptomatic antibody deficiency.
Angelino, G, Cancrini, C, Di Pierro, V, Ferrari, S, Finocchi, A, Rossi, P, Zuntini, R   +6 more
core   +2 more sources

Red flags to suspect inborn errors of immunity in patients with autoimmune diseases

Biomédica: revista del Instituto Nacional de Salud
Inborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are ...
Natalia Vélez, Juliette De Ávila, Jaime Cortés, Nelson Barrero, Leosirlay Rojas, Juan Manuel Bello, Consuelo Romero-Sánchez   +6 more
doaj   +1 more source

ISG15 protects human Tregs from interferon alpha‐induced contraction in a cell‐intrinsic fashion

Clinical & Translational Immunology, 2020
Objectives Type I interferons (IFNs) inhibit regulatory T‐cell (Treg) expansion and activation, making them beneficial in antiviral responses, but detrimental in autoimmune diseases.
Ilenia Pacella, Francesca Romana Spinelli, Martina Severa, Eleonora Timperi, Gloria Tucci, Marta Zagaglioni, Fulvia Ceccarelli, Fabiana Rizzo, Eliana M Coccia, Roosheel S Patel, Marta Martin‐Fernandez, Dusan Bogunovic, Fabrizio Conti, Vincenzo Barnaba, Silvia Piconese   +14 more
doaj   +1 more source

Pneumonia in inborn errors of immunity [PDF]

, 2023
Pneumonia este o inflamație acută a sistemului respirator inferior și este una dintre principalele cauze de deces în rândul copiilor din întreaga lume.
Sciuca, Svetlana, Tomacinschii, Cristina
core  

What a Clinician Needs to Know About Genome Editing: Status and Opportunities for Inborn Errors of Immunity [PDF]

During the past 20 years, gene editing has emerged as a novel form of gene therapy. Since the publication of the first potentially therapeutic gene editing platform for genetic disorders, increasingly sophisticated editing technologies have been ...
Booth, Claire, Kohn, Donald B, Kuo, Caroline Y, Mudde, Anne CA   +3 more
core  

Rise and fall of Achille de Giovanni\u2019s clinical anthropometry [PDF]

, 2018
Achille de Giovanni (1838-1916), Italian clinician and pathologist, developed a constitutional method for clinical investigations based on the morphology of the human body.
Zampieri, Fabio
core  

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients [PDF]

, 2021
Alice Grossi, Maurizio Miano, Marina Lanciotti, Francesca Fioredda, Daniela Guardo, Elena Palmisani, Paola Terranova, Giuseppe Santamaria, Francesco Caroli, Roberta Caorsi, Stefano Volpi, Marco Gattorno, Carlo Dufour, Isabella Ceccherini   +13 more
openalex   +1 more source