Results 21 to 30 of about 7,040 (243)

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

Nature and nurture: understanding phenotypic variation in inborn errors of immunity

Frontiers in Cellular and Infection Microbiology, 2023
The overall disease burden of pediatric infection is high, with widely varying clinical outcomes including death. Among the most vulnerable children, those with inborn errors of immunity, reduced penetrance and variable expressivity are common but poorly
Morgan Similuk, Taco Kuijpers
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 ...
Parlar, Yavuz Emre, Ayar, Sefika Nur, Cagdas, Deniz, Balaban, Yasemin H   +3 more
openaire   +2 more sources

Visceral Leishmaniasis Revealing Undiagnosed Inborn Errors of Immunity

Revista da Sociedade Brasileira de Medicina Tropical, 2023
Visceral Leishmaniasis (VL) is a potentially fatal disease and may be associated with primary or acquired immunodeficiencies. There are few reports, in the literature, of inborn errors of immunity.
Daniel Gleison Carvalho, Dewton de Moraes Vasconcelos, Andreia Cristiane Rangel Santos, Jose Angelo Lauletta Lindoso   +3 more
doaj   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Epigenetic Alterations in Inborn Errors of Immunity [PDF]

Journal of Clinical Medicine, 2022
The epigenome bridges environmental factors and the genome, fine-tuning the process of gene transcription. Physiological programs, including the development, maturation and maintenance of cellular identity and function, are modulated by intricate epigenetic changes that encompass DNA methylation, chromatin remodeling, histone modifications and RNA ...
Romano R., Cillo F., Moracas C., Pignata L., Nannola C., Toriello E., De Rosa A., Cirillo E., Coppola E., Giardino G., Brunetti-pierri N., Riccio A., Pignata C.   +12 more
openaire   +5 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