Results 31 to 40 of about 16,445 (315)

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

Inborn errors of immunity associated with characteristic phenotypes

Jornal de Pediatria, 2021
Objectives: The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity.
Maine Luellah Demaret Bardou, Marina Teixeira Henriques, Anete Sevciovic Grumach   +2 more
doaj   +5 more sources

Editorial: Inborn errors of immunity and mucosal immunity

Frontiers in Immunology, 2023
Elena Wen-Yuan Hsieh, Elena Wen-Yuan Hsieh, Scott B. Snapper, Edwin F. de Zoeten   +3 more
doaj   +3 more sources

Repercussions of inborn errors of immunity on growth

Jornal de Pediatria (Versão em Português), 2019
Objectives: This study aimed to review the literature on the repercussions of the different inborn errors of immunity on growth, drawing attention to the diagnosis of this group of diseases in patients with growth disorders, as well as to enable the ...
Ekaterini Simões Goudouris, Gesmar Rodrigues Silva Segundo, Cecilia Poli   +2 more
doaj   +7 more sources

Editorial: Immune dysregulation in inborn errors of immunity

Frontiers in Pediatrics, 2023
Eveline Y. Wu, Eveline Y. Wu, Amir H. Shahlaee, Mildred Kwan   +3 more
doaj   +3 more sources

γδ T Cells and Inborn Errors of Immunity. [PDF]

Eur J Immunol
Sagar, Ehl S.
europepmc   +3 more sources

Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry. [PDF]

Front Genet
Chavoshzadeh Z, Fallah S, Zeinali V, Sharafian S, Delavari S, Mesdaghi M, Djidjik R, Belaid B, Ikinciogullari A, Haskologlu S, Dogu F, Genel F, Gulez N, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Meric Z, Kutukculer N, Aygun A, Aksu G, Karaca NE, Geyik M, Keles S, Reisli I, Nail Guner S, Boukari R, Hakem S, Belbouab R, Barbouche MR, Ben-Mustapha I, Mekki N, Ben-Ali M, Sobh A, Elnagdy M, Djenouhat K, Tahiat A, Shendi HM, Alkuwaiti A, Nasrullayeva G, Alfars T, Alsukaiti N, Massaad M, Mehawej C, Megarbane A, Irani C, Elghazali G, Al-Tamemi S, Khalifa N, Alzyoud R, Gultekin SSK, Kose H, Khodaverdy H, Shamsian BS, Eslami N, Momen T, Sherkat R, Aleyasin S, Esmaeilzadeh H, Ahanchian H, Salami F, Fekrvand S, Dupre L, Ochs HD, Rezaei N, Al-Herz W, Abolhassani H.   +66 more
europepmc   +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

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

Failure of immunological competence: when to suspect?

Jornal de Pediatria, 2021
Objectives: To draw physicians’ attention to the different warning signs of diseases of inborn errors of immunity. Data sources: A non-systematic review of the literature was carried out in the PubMed, LILACS, and SciELO databases, in addition to ...
Fernanda Pinto-Mariz
doaj   +1 more source