Results 31 to 40 of about 7,040 (243)
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
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Immune dysfunction in inborn errors of immunity causing malignancies [PDF]
Expert Review of Clinical Immunology, 2021 In recent years, numerous new genetic reasons for human inborn errors of immunity (IEI) have been identified [1,2].
Baris, Safa, Kolukisa, Burcu
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Transition of care in inborn errors of immunity
Current Opinion in Allergy & Clinical Immunology, 2023 Purpose of review This review outlines the principles of transition, summarizes current information about transition practices in inborn errors of immunity (IEI) and highlights general and specific considerations for transition of patients with these conditions.
Tadros, Susan, Burns, Siobhan O.
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Liver Transplantation, EarlyView., 2022 Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala +6 more
wiley +1 more source
Human inborn errors of immunity associated with IRF4
Frontiers in Immunology, 2023 The transcription factor interferon regulatory factor 4 (IRF4) belongs to the IRF family and has several important functions for the adaptive immune response.
Romane Thouenon +3 more
doaj +1 more source
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 +1 more source
Journal of Human ImmunityClinical research and real-world observational studies are essential for advancing the diagnosis and treatment of rare diseases, such as inborn errors of immunity/primary immune disorders (IEI/PID).
Markus G. Seidel
doaj +1 more source
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 +1 more source
Thymic inborn errors of immunity
Journal of Allergy and Clinical ImmunologyThe thymus is crucial for optimal T-cell development by facilitating the generation and selection of a diverse repertoire of T cells that can recognize foreign antigens while promoting tolerance to self-antigens. A number of inborn errors of immunity causing complete or partial defects in thymic development (athymia) and/or impaired thymic function ...
Pala, Francesca +2 more
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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] .
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