Results 41 to 50 of about 15,070 (233)

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

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

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  

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

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity [PDF]

, 2017
Beginning in 1970, a committee was constituted under the auspices of the World Health Organization (WHO) to catalog primary immunodeficiencies. Twenty years later, the International Union of Immunological Societies (IUIS) took the remit of this committee.
Al-Herz, W, Bobby Gaspar, H, Bousfiha, A, Casanova, JL, Chatila, T, Crow, YJ, Cunningham-Rundles, C, Etzioni, A, Franco, JL, Holland, SM, Klein, C, Morio, T, Ochs, HD, Oksenhendler, E, Picard, C, Puck, J, Sullivan, KE, Tang, MLK, Tangye, SG, Torgerson, TR   +19 more
core   +4 more sources

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

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
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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

Recent advances in primary immunodeficiency: from molecular diagnosis to treatment [version 1; peer review: 3 approved]

F1000Research, 2020
The technological advances in diagnostics and therapy of primary immunodeficiency are progressing at a fast pace. This review examines recent developments in the field of inborn errors of immunity, from their definition to their treatment.
Giorgia Bucciol, Isabelle Meyts
doaj   +1 more source

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