Results 21 to 30 of about 2,682,884 (340)
Inborn Errors of Immunity in Adults with Autoimmune Liver Diseases. [PDF]
Turk J GastroenterolBackground/Aims: Inborn errors of immunity (IEI) may associate with autoimmune diseases, including autoimmune liver diseases (AILD). However, both the IEI frequency and secondary effects of immunosuppressives are unknown in patients with AILD due to the ...
Ayar ŞN +5 more
europepmc +2 more sources
Editorial: Inborn errors of immunity and mucosal immunity
Frontiers in Immunology, 2023 Elena Wen-Yuan Hsieh +3 more
doaj +3 more sources
Current genetic diagnostics in inborn errors of immunity. [PDF]
Front PediatrNew technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI), which ...
von Hardenberg S +6 more
europepmc +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 +3 more
doaj +5 more sources
Microbiome and Its Dysbiosis in Inborn Errors of Immunity
Pathogens, 2023 Inborn errors of immunity (IEI) can present with infections, autoimmunity, lymphoproliferation, granulomas, and malignancy. IEIs are due to genetic abnormalities that disrupt normal host-immune response or immune regulation.
Madhubala Sharma +5 more
doaj +3 more sources
Development of an Expert-Based Scoring System for Early Identification of Patients with Inborn Errors of Immunity in Primary Care Settings - the PIDCAP Project. [PDF]
J Clin ImmunolEarly diagnosis of inborn errors of immunity (IEIs) has been shown to reduce mortality, morbidity, and healthcare costs. The need for early diagnosis has led to the development of computational tools that trigger earlier clinical suspicion by physicians.
Rivière JG +7 more
europepmc +2 more sources
Inborn errors of immunity associated with characteristic phenotypes
Jornal de Pediatria, 2021 Objectives: The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity.
Maine Luellah Demaret Bardou +2 more
doaj +6 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 +3 more
openalex +4 more sources
Future of Therapy for Inborn Errors of Immunity [PDF]
Clinical Reviews in Allergy & Immunology, 2022 Over the past 20 years, the rapid evolution in the diagnosis and treatment of primary immunodeficiencies (PI) and the recognition of immune dysregulation as a feature in some have prompted the use of "inborn errors of immunity" (IEI) as a more encompassing term used to describe these disorders [1, 2] .
Elena E. Perez
openalex +3 more sources
Inborn Errors of Immunity: how to diagnose them?
Jornal de Pediatria, 2021 Objectives: Inborn Errors of Immunity are characterized by infectious conditions and manifestations of immune dysregulation. The diversity of clinical phenotypes can make it difficult to direct the laboratory investigation.
Anete Sevciovic Grumach +1 more
doaj +6 more sources