Results 41 to 50 of about 15,568 (286)

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  

Human inborn errors of immunity associated with IRF4

Frontiers in Immunology, 2023
The transcription factor interferon regulatory factor 4 (IRF4) belongs to the IRF family and has several important functions for the adaptive immune response.
Romane Thouenon, Romane Thouenon, Sven Kracker, Sven Kracker   +3 more
doaj   +1 more source

Thymic inborn errors of immunity. [PDF]

J Allergy Clin Immunol
The thymus is crucial for optimal T-cell development by facilitating the generation and selection of a diverse repertoire of T cells that can recognize foreign antigens while promoting tolerance to self-antigens. A number of inborn errors of immunity causing complete or partial defects in thymic development (athymia) and/or impaired thymic function ...
Pala F, Notarangelo LD, Lionakis MS.
europepmc   +3 more sources

Rheumatological manifestations in inborn errors of immunity [PDF]

Pediatric Research, 2019
Rare monogenetic diseases serve as natural models to dissect the molecular pathophysiology of the complex disease traits. Rheumatologic disorders by their nature are considered complex diseases with partially genetic origin, as illustrated by their heterogeneous genetic background and variable phenotypic presentation.
Sevgi, Köstel Bal, Julia, Pazmandi, Kaan, Boztug, Seza, Özen   +3 more
openaire   +2 more sources

Modeling viral infectious diseases and development of antiviral therapies using human induced pluripotent stem cell-derived systems [PDF]

, 2015
The recent biotechnology breakthrough of cell reprogramming and generation of induced pluripotent stem cells (iPSCs), which has revolutionized the approaches to study the mechanisms of human diseases and to test new drugs, can be exploited to generate ...
Barzon, Luisa, Berto, Alessandro, Desole, Giovanna, Pacenti, Monia, Palu', Giorgio, Sinigaglia, Alessandro, Trevisan, Marta   +6 more
core   +2 more sources

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

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

Chimerism and xenotransplantation: New concepts [PDF]

, 1999
In both transplant and infectious circumstances, the immune response is governed by migration and localization of the antigen. If the antigenic epitopes of transgenic xenografts are sufficiently altered to avoid evoking the destructive force of innate ...
Demetris, AJ, Fung, JJ, Murase, N, Rao, AS, Starzl, TE, Thomson, A   +5 more
core   +1 more source

Pro-inflammatory signaling by IL-10 and IL-22: bad habit stirred up by interferons? [PDF]

, 2013
Interleukin (IL)-10 and IL-22 are key members of the IL-10 cytokine family that share characteristic properties such as defined structural features, usage of IL-10R2 as one receptor chain, and activation of signal transducer and activator of ...
Mühl, Heiko
core   +5 more sources

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