Results 41 to 50 of about 7,759 (229)

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

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.
ÖZEN, SEZA, Boztug, Kaan, Pazmandi, Julia, Bal, Sevgi Koestel   +3 more
openaire   +3 more sources

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

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.
openaire   +2 more sources

Neonates with acute liver failure have higher overall mortality but similar posttransplant outcomes as older infants

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, Bridget Whitehead, Justin Godown, Matt Hall, Anna Banc‐Husu, Estella M. Alonso, Sarah A. Taylor   +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, Romane Thouenon, Sven Kracker, Sven Kracker   +3 more
doaj   +1 more source

Impact and Perspectives of Registry-Based Research in Inborn Errors of Immunity/Primary Immune Disorders: Insights from the ESID Registry of 36,681 Patients

Journal of Human Immunity
Clinical 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

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, Marina Teixeira Henriques, Anete Sevciovic Grumach   +2 more
doaj   +1 more source

Thymic inborn errors of immunity

Journal of Allergy and Clinical Immunology
The 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, Notarangelo, Luigi D., Lionakis, Michail S.   +2 more
openaire   +3 more sources