Results 11 to 20 of about 165,980,093 (264)

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

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   +2 more sources

Inborn Errors of Immunity in Apoptosis

Frontiers in Bioscience-Landmark
Inborn errors of immunity (IEIs) are a group of more than 485 disorders that impair immune development and function with variable reported incidence, severity, and clinical phenotypes.
Nadia Makkoukdji, Travis Satnarine, Alana Xavier de Almeida, Matthew Wyke, Iris H. Kim, Gary I. Kleiner, Melissa Gans   +6 more
doaj   +3 more sources

Granulomatous inflammation in inborn errors of immunity

Frontiers in Pediatrics, 2023
Granulomas have been defined as inflammatory infiltrates formed by recruitment of macrophages and T cells. The three-dimensional spherical structure typically consists of a central core of tissue resident macrophages which may merge into multinucleated ...
Keith A. Sacco, Andrea Gazzin, Luigi D. Notarangelo, Ottavia M. Delmonte   +3 more
doaj   +3 more sources

Management of Inborn Errors of Immunity in the Genomic Era

Turkish Archives of Pediatrics, 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. As of 2022, over 450 gene deficiencies have been classified under ten categories, where numbers are constantly increasing.
Damla Demir, Doğa, Asnaashari, Kosar, Rezaei, Nima, Özen, Ahmet   +3 more
openaire   +4 more sources

Inborn Errors of Immunity and Autoimmune Disease

The Journal of Allergy and Clinical Immunology: In Practice, 2023
Autoimmunity may be a manifestation of inborn errors of immunity, specifically as part of the subgroup of primary immunodeficiency known as primary immune regulatory disorders. However, although making a single gene diagnosis can have important implications for prognosis and management, picking patients to screen can be difficult, against a background ...
Paul Edgar Gray, Clementine David
openaire   +4 more sources

Inborn errors of immunity in adulthood

Allergy, Asthma & Clinical Immunology
Inborn errors of immunity (IEIs) are a group of conditions whereby parts of the immune system are missing or dysfunctional. Once thought to primarily be a pediatric disorder, it is now estimated that more than 50% of worldwide incident IEI cases are ...
Joanne J. F. Wang, Arün Dhir, Kyla J. Hildebrand, Stuart E. Turvey, Robert Schellenberg, Luke Y. C. Chen, Persia Pourshahnazari, Catherine M. Biggs   +7 more
doaj   +3 more sources

Neuroinflammation Associated With Inborn Errors of Immunity [PDF]

Frontiers in Immunology, 2022
The advent of high-throughput sequencing has facilitated genotype-phenotype correlations in congenital diseases. This has provided molecular diagnosis and benefited patient management but has also revealed substantial phenotypic heterogeneity.
Hannes Lindahl, Hannes Lindahl, Yenan T. Bryceson, Yenan T. Bryceson, Yenan T. Bryceson   +4 more
doaj   +5 more sources

HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity

Pathogens, 2022
Patients with inborn errors of immunity (IEI) are prone to develop infections, either due to a broad spectrum of pathogens or to only one microbe. Since skin is a major barrier tissue, cutaneous infections are among the most prevalent in patients with ...
Vivien Béziat, Ahmed Aziz Bousfiha, Emmanuelle Jouanguy   +2 more
exaly   +3 more sources

Inborn errors of immunity (primary immunodeficiencies)

Allergy, Asthma & Clinical Immunology
Primary immunodeficiencies (PID), now often referred to as inborn errors of immunity (IEI), are a large heterogeneous group of disorders that result from deficiencies in immune system development and/or function.
Vy H. D. Kim, Julia E. M. Upton, Beata Derfalvi, Kyla J. Hildebrand, Christine McCusker   +4 more
doaj   +3 more sources

Inborn Errors of Immunity

AbstractInborn errors of immunity (IEI) comprise diseases arising from genetic defects that lead to abnormalities in immune cell development or function with a wide spectrum in severity and clinical manifestations. The number of transplants for IEI has increased significantly over the last years, elicited by better insight in the pathogenesis of the ...
Heather K. Lehman, Giulia M. Martone, Ariana Yakuby   +2 more
core   +4 more sources