Results 1 to 10 of about 7,598 (255)

Inborn Errors of Immunity: how to diagnose them?

Jornal de Pediatria, 2021
Objectives: Inborn Errors of Immunity are characterized by infectious conditions and manifestations of immune dysregulation. The diversity of clinical phenotypes can make it difficult to direct the laboratory investigation.
Anete Sevciovic Grumach, Ekaterini Simões Goudouris   +1 more
doaj   +2 more sources

Inborn errors of immunity with eosinophilia

Allergology International, 2021
Monogenic diseases of the immune system, also known as inborn errors of immunity (IEIs), are caused by single-gene mutations and result in immune deficiency and dysregulation.
Keisuke Okamoto, Tomohiro Morio
doaj   +2 more sources

Thrombocytopenia in patients with inborn errors of immunity [PDF]

BMC Immunology
Background Inborn errors of immunity (IEI) are inherited defects of innate or adaptive immune system. Thrombocytopenia is a significant multifactorial complication in IEI patients leading to severe clinical consequences including coagulative disorders ...
Saba Fekrvand, Maryam Mohtashami, Negin Sanadgol, Helia Salehi, Najmeh Nameh Goshay Fard, Ehsan Khoshnezhad Afkham, Zahra Chavoshzadeh, Nima Parvaneh, Seyed Alireza Mahdaviani, Samin Sharafian, Sahar Barzamini, Hamid Ahanchian, Arash Kalantari, Alireza Shafiei, Marzieh Tavakol, Farhad Abolnezhadian, Mina Kianmanesh Rad, Gholamreza Hassanpour, Taher Cheraghi, Amir Salehi Farid, Samaneh Delavari, Hassan Abolhassani, Nima Rezaei, Reza Yazdani   +23 more
doaj   +2 more sources

HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity [PDF]

Pathogens, 2022
Patients with inborn errors of immunity (IEI) are prone to develop infections, either due to a broad spectrum of pathogens or to only one microbe. Since skin is a major barrier tissue, cutaneous infections are among the most prevalent in patients with ...
Assiya El Kettani, Fatima Ailal, Jalila El Bakkouri, Khalid Zerouali, Vivien Béziat, Emmanuelle Jouanguy, Jean-Laurent Casanova, Ahmed Aziz Bousfiha   +7 more
doaj   +2 more sources

Inborn errors of immunity (primary immunodeficiencies) [PDF]

Allergy, Asthma & Clinical Immunology
Primary immunodeficiencies (PID), now often referred to as inborn errors of immunity (IEI), are a large heterogeneous group of disorders that result from deficiencies in immune system development and/or function.
Vy H. D. Kim, Julia E. M. Upton, Beata Derfalvi, Kyla J. Hildebrand, Christine McCusker   +4 more
doaj   +2 more sources

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunityIntronic branchpoint-to-acceptor variants [PDF]

Journal of Human Immunity
We describe seven intronic pathogenic variants underlying inborn errors of immunity.
Najiba Alioua, Nathalie Lambert, Mathilde Puel, Sylvain Hanein, Paul Bastard, Mathieu Fusaro, Marie Jaffray, Bernardita Medel, Lydia Khellaf, Yoann Seeleuthner, Mélodie Perin, Corinne Jacques, Marlène Pasquet, Laura Olivier, Fernando Sepulveda, Tom Le Voyer, Aurélie Cobat, Patrick Nitschké, Lionel Galicier, Nicolas Schleinitz, Eric Oksenhendler, Marion Malphettes, Bénédicte Neven, Despina Moshous, Felipe Suarez, Claire Fieschi, Jean-Laurent Casanova, Geneviève de Saint Basile, Guillaume Dorval, Capucine Picard, Jacinta Bustamante, Peng Zhang, Jérémie Rosain   +32 more
doaj   +2 more sources

Gastroenterological disorders in inborn errors of immunity. Part 1. Epidemiology, classification, symptoms, diagnosis, and treatment. [PDF]

Prz Gastroenterol
Napiórkowska-Baran K, Treichel P, Koperska K, Kudrej O, Mućka N, Rajewska A, Wawrzeńczyk A, Bartuzi Z.   +7 more
europepmc   +3 more sources

Inborn Errors of Immunity and Cancer

Biology, 2021
Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterized by a defect in the function of at least one, and often more, components of the immune system.
Alessandra Tiri, Riccardo Masetti, Francesca Conti, Anna Tignanelli, Elena Turrini, Patrizia Bertolini, Susanna Esposito, Andrea Pession   +7 more
doaj   +1 more source

An ACE2 Triple Decoy that neutralizes SARS-CoV-2 shows enhanced affinity for virus variants

Scientific Reports, 2021
The SARS-CoV-2 variants replacing the first wave strain pose an increased threat by their potential ability to escape pre-existing humoral protection. An angiotensin converting enzyme 2 (ACE2) decoy that competes with endogenous ACE2 for binding of the ...
Shiho Tanaka, Gard Nelson, C. Anders Olson, Oleksandr Buzko, Wendy Higashide, Annie Shin, Marcos Gonzalez, Justin Taft, Roosheel Patel, Sofija Buta, Ashley Richardson, Dusan Bogunovic, Patricia Spilman, Kayvan Niazi, Shahrooz Rabizadeh, Patrick Soon-Shiong   +15 more
doaj   +1 more source

Endocrinopathies in Inborn Errors of Immunity

Frontiers in Immunology, 2021
Inborn errors of immunity (IEI), caused by hereditary or genetic defects, are a group of more than 400 disorders, in which the immune system, including lymphocytes, neutrophils, macrophages, and complements, does not function properly.
Kei Takasawa, Hirokazu Kanegane, Kenichi Kashimada, Tomohiro Morio   +3 more
doaj   +1 more source