Results 31 to 40 of about 165,980,093 (264)

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

Monogenic Adult-Onset Inborn Errors of Immunity

Frontiers in Immunology, 2021
Inborn errors of immunity (IEI) are a heterogenous group of disorders driven by genetic defects that functionally impact the development and/or function of the innate and/or adaptive immune system.
Frederik Staels, Frederik Staels, Tom Collignon, Albrecht Betrains, Albrecht Betrains, Margaux Gerbaux, Margaux Gerbaux, Mathijs Willemsen, Mathijs Willemsen, Stephanie Humblet-Baron, Adrian Liston, Adrian Liston, Steven Vanderschueren, Steven Vanderschueren, Rik Schrijvers, Rik Schrijvers   +15 more
doaj   +1 more source

RIPK1-Associated Inborn Errors of Innate Immunity

Frontiers in Immunology, 2021
RIPK1 (receptor-interacting serine/threonine-protein kinase 1) is a key molecule for mediating apoptosis, necroptosis, and inflammatory pathways downstream of death receptors (DRs) and pattern recognition receptors (PRRs).
Jiahui Zhang, Jiahui Zhang, Taijie Jin, Taijie Jin, Ivona Aksentijevich, Qing Zhou, Qing Zhou   +6 more
doaj   +1 more source

Disseminated mycobacterial infections after tumor necrosis factor inhibitor use, revealing inborn errors of immunity

International Journal of Infectious Diseases, 2023
Tumor necrosis factor-a inhibitors can be associated with increased risk of infections, particularly reactivation of latent tuberculosis or nontuberculous mycobacterium (NTM). However, because disseminated NTM is rare, inborn errors of immunity should be
Jacqueline D. Squire, Claudia R. Libertin, Harry Powers, Jared Nelson, Lisa Brumble, Federico R. Laham, Anahita Agharahimi, Alexandra F. Freeman, Jennifer W. Leiding   +8 more
doaj   +1 more source

Liver immunity, autoimmunity, and inborn errors of immunity

World Journal of Hepatology, 2023
The liver is the front line organ of the immune system. The liver contains the largest collection of phagocytic cells in the body that detect both pathogens that enter through the gut and endogenously produced antigens. This is possible by the highly developed differentiation capacity of the liver immune system between self-antigens or non-self ...
ÇAĞDAŞ AYVAZ, DENİZ NAZİRE, AYAR, ŞEFİKA NUR, PARLAR, YAVUZ EMRE, BALABAN, HATİCE YASEMİN   +3 more
openaire   +3 more sources

A proposed nosology of inborn errors of metabolism [PDF]

, 2018
Purpose: We propose a nosology for inborn errors of metabolism that builds on their recent redefinition. Methods: We established a strict definition of criteria to develop a self-consistent schema for inclusion of a disorder into the nosology.
Ferreira, Carlos R., Carlos R. Ferreira, Nenad Blau, Clara D.M. van Karnebeek, van Karnebeek, Clara D M, Blau, Nenad, Jerry Vockley, van Karnebeek, Clara D. M., Vockley, Jerry, Ferreira, Carlos R   +9 more
core   +1 more source

IKZF-associated inborn errors of immunityIKZF-associated inborn errors of immunity [PDF]

Journal of Human Immunity
Germline variants in IKZF family proteins cause inborn errors of immunity characterized by variable degrees of immunodeficiency, immune dysregulation, and occasional malignancies.
Motoi Yamashita, Tomohiro Morio
doaj   +1 more source

Adenosine deaminase type 2 deficiency: From rare to commonUpdate on human adenosine deaminase 2 deficiency [PDF]

Journal of Human Immunity
Wouters et al. review the clinical and genetic landscape of DADA2, a multisystem inborn error of immunity. It examines expanding phenotypes, emerging pathophysiological mechanisms, treatment strategies, and newly described dominant-negative variants that
Marjon Wouters, Verena Kienapfel, Lisa Ehlers, Hasan Hashem, Ivona Aksentijevich, Isabelle Meyts   +5 more
doaj   +1 more source

Host Defenses to Viruses: Lessons from Inborn Errors of Immunity

, 2022
The constant battle between viruses and their hosts leads to their reciprocal evolution. Viruses regularly develop survival strategies against host immunity, while their ability to replicate and disseminate is countered by the antiviral defense ...
Beatrice Rivalta, Fabrizio Leone, Caterina Cancrini, Lucia Leonardi, Leone, Fabrizio, Caffarelli, Carlo, Carlo Caffarelli, Fabio Cardinale, Cardinale, Fabio, Cancrini, Caterina, Gian Luigi Marseglia, Leonardi, Lucia, Rivalta, Beatrice, Marseglia, Gian Luigi   +13 more
core   +2 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