Results 31 to 40 of about 8,524 (262)

Functional genomics in inborn errors of immunity

Immunological Reviews
SummaryInborn errors of immunity (IEI) comprise a diverse spectrum of 485 disorders as recognized by the International Union of Immunological Societies Committee on Inborn Error of Immunity in 2022. While IEI are monogenic by definition, they illuminate various pathways involved in the pathogenesis of polygenic immune dysregulation as in autoimmune or ...
Charlotte Hurabielle, Taylor N. LaFlam, Melissa Gearing, Chun Jimmie Ye   +3 more
openaire   +4 more sources

The lung in inborn errors of immunity

Pediatric Pulmonology
AbstractThe lungs are integral to immune defense, and inborn errors of immunity (IEI) often manifest as lung disease. Lung complications of IEI can involve the airways, alveolar spaces, interstitium, vasculature, and pleura. Accurate identification of these lung disease patterns requires a thorough clinical history, physical examination, and high ...
Sonia Restrepo‐Gualteros, Gustavo Nino, Maria J. Gutierrez   +2 more
openaire   +3 more sources

Inborn Errors of Immunity: New Insights

Acta Medica Academica
This paper presents a comprehensive and updated overview of inborn errors of immunity (IEIs), focusing on the optimal treatment strategies. IEIs or primary immunodeficiencies (PIDs) are a heterogeneous group of approximately 500 disorders, classified into ten categories according to the affected component of the immune system. The clinical presentation
Roganović, Jelena, Bellesi, Gaia
openaire   +4 more sources

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

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

Management of inborn errors of immunity in the genomic era

, 2022
Inborn errors of immunity are a group of rare diseases characterized by a wide variety of manifestations, including unusually severe infections, cancer susceptibility, and exaggerated inflammation that disrupts organ function.
ÖZEN, AHMET OĞUZHAN
core   +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

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