Results 41 to 50 of about 15,747 (332)

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies [PDF]

, 2018
Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity.
AA Bousfiha, AA Bousfiha, Amos Etzioni, Aziz Bousfiha, Capucine Picard, Charlotte Cunningham-Rundles, Christoph Klein, Eric Oksenhendler, Fatima Ailal, H. Bobby Gaspar, Hans D. Ochs, Jean-Laurent Casanova, Jennifer Puck, Jose Luis Franco, Kathleen E. Sullivan, L Jeddane, L Kobrynski, Leïla Jeddane, Mimi L. K. Tang, Steven M. Holland, Stuart G. Tangye, Talal Chatila, Tomohiro Morio, Troy R. Torgerson, Waleed Al-Herz, Yanick J. Crow   +25 more
core   +4 more sources

Atopic manifestations of inborn errors of immunity

Current Opinion in Allergy & Clinical Immunology, 2023
Purpose of review Allergy and atopic features are now well recognized manifestations of many inborn errors of immunity (IEI), and indeed may be the hallmark in some, such as DOCK8 deficiency. In this review, we describe the current IEI associated with atopy, using a comprehensive literature search and updates from the IUIS ...
Sams, Laura, Wijetilleka, Sonali, Ponsford, Mark, Gennery, Andrew, Jolles, Stephen   +4 more
openaire   +2 more sources

Immune dysfunction in inborn errors of immunity causing malignancies [PDF]

Expert Review of Clinical Immunology, 2021
In recent years, numerous new genetic reasons for human inborn errors of immunity (IEI) have been identified [1,2].
Baris, Safa, Kolukisa, Burcu
openaire   +4 more sources

Neonates with acute liver failure have higher overall mortality but similar posttransplant outcomes as older infants

Liver Transplantation, EarlyView., 2022
Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala, Bridget Whitehead, Justin Godown, Matt Hall, Anna Banc‐Husu, Estella M. Alonso, Sarah A. Taylor   +6 more
wiley   +1 more source

Novel genetic variants of inborn errors of immunity.

PLoS ONE, 2021
ObjectivesInborn errors of immunity (IEI) are prevalent in tribal cultures due to frequent consanguineous marriages. Many of these disorders are autosomal recessive, resulting from founder mutations; hence they are amenable to prevention.
Farida Almarzooqi, Abdul-Kader Souid, Ranjit Vijayan, Suleiman Al-Hammadi   +3 more
doaj   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe [PDF]

, 2013
Background: Chronic mucocutaneous candidiasis disease (CMCD) may result from various inborn errors of interleukin (IL)-17-mediated immunity. Twelve of the 13 causal mutations described to date affect the coiled-coil domain (CCD) of STAT1.
Adrien Katalin Sarkadi, Anastasia Bondarenko, Anna Sediva, Anne Puel, Avinash Abhyankar, Beáta Soltész, Beáta Tóth, Bogunovic, Boisson-Dupuis, Bolze, Briggs, Browne, Byun, Caughman, Chalouhi, David Neumann, den Dunnen, Engelhardt, Filipe-Santos, Gabriella Csorba, Holland, Hong, Hori, Horváth, Jayaraman, Jean-Laurent Casanova, Jiri Litzman, Kita, Leonóra Méhes, Li, Li, Liao, Lilic, Lipton, Liu, Liudmyla Chernyshova, László Maródi, Marazzi, Maródi, Maródi, Maródi, Maródi, Maródi, Maródi, McKenna, Mertens, Mielke, Minegishi, Nadejda Shabashova, Naik, Oppenheim, Pavel Rozsíval, Puel, Puel, Puel, Rice, Satoshi Okada, Selmi, Smeekens, Sophie Cypowyj, Szilvia Taskó, Takezaki, Tóth, van de Veerdonk, Zheng, Zhong, Zsolt Tulassay   +66 more
core   +1 more source

Transition of care in inborn errors of immunity

Current Opinion in Allergy & Clinical Immunology, 2023
Purpose of review This review outlines the principles of transition, summarizes current information about transition practices in inborn errors of immunity (IEI) and highlights general and specific considerations for transition of patients with these conditions.
Tadros, Susan, Burns, Siobhan O.
openaire   +2 more sources

Impaired biotin status in anticonvulsant therapy [PDF]

, 1982
In 264 epileptics undergoing long-term therapy with anticonvulsants, significantly reduced plasma biotin levels were found compared with a normal control group: 74% of the epileptics had biotin levels for those treated with sodium valproate were higher ...
Bonjour, Charles, Cowan, Frigg, Krause, Patsalos, Sander, Thoene   +7 more
core   +1 more source

Inborn Errors of Immunity With Immune Dysregulation: From Bench to Bedside

Frontiers in Pediatrics, 2019
Inborn errors of immunity are genetic disorders with broad clinical manifestations, ranging from increased susceptibility to infections to significant immune dysregulation, often leading to multiple autoimmune phenomena, lymphoproliferation, and ...
Ottavia Maria Delmonte, Riccardo Castagnoli, Riccardo Castagnoli, Enrica Calzoni, Enrica Calzoni, Luigi Daniele Notarangelo   +5 more
doaj   +1 more source