Results 51 to 60 of about 8,524 (262)

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

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

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

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] .
openaire   +2 more sources

Strategic Design of Soft Actuators in Translational Medical Robotics for Human‐Centered Healthcare

Advanced Robotics Research, EarlyView.
Soft robotics enables biocompatible, compliant medical devices, but clinical translation requires design‐driven engineering beyond materials. This perspective reviews implantable, surgical, and wearable systems by actuation mechanism, highlighting how optimized architectures and integration improve mechanical interfacing, adaptability, and durability ...
Ho Jun Jin, Jimin Kim, Inho Kim, Bong Hoon Kim   +3 more
wiley   +1 more source

ADA2-deficient cells exhibit increased levels of cell death and metabolic disturbances

Cell Death Discovery
Deficiency of adenosine deaminase 2 (DADA2) causes a complex phenotype of autoinflammation and immunodeficiency. Bone marrow failure is often refractory to treatment with tumour necrosis factor-alpha (TNF-alpha) inhibitors and additional treatment ...
Lisa Ehlers, Marjon Wouters, Bethany Pillay, Selket Delafontaine, Giorgia Bucciol, Marco Baggio, Mariia Dzhus, Anneleen Hombrouck, Alexandra Damerau, Lien De Somer, Rik Schrijvers, Steven Vanderschueren, Maarten Jacquemyn, Tilmann Kallinich, Dirk Daelemans, Bart Ghesquière, Patrizia Agostinis, Leen Moens, Isabelle Meyts   +18 more
doaj   +1 more source

GATA4‐Driven Transcription of HtrA1 Promotes Cellular Senescence in Ménière's Disease and Age‐Related Audio‐Vestibular Dysfunction

Advanced Science, EarlyView.
This study identifies the HDAC6/GATA4/HtrA1 axis as a critical driver of cellular senescence in the inner ear. GATA4 nuclear translocation, facilitated by HDAC6 downregulation, transcriptionally activates HtrA1, promoting hair cell senescence, SASP, and audio‐vestibular dysfunction in models of Ménière's disease and age‐related audio‐vestibular ...
Na Zhang, Na Li, Yan Wang, Jing Zhang, Jiahui Liu, Lei Chen, Yongdong Song, Yurong Mu, Yuechen Han, Yafeng Lyu, Xiaofei Li, Hanyue Wang, Jing Wang, Yao Lu, Zhaomin Fan, Daogong Zhang, Haibo Wang   +16 more
wiley   +1 more source

Recent advances in primary immunodeficiency: from molecular diagnosis to treatment [version 1; peer review: 3 approved]

F1000Research, 2020
The technological advances in diagnostics and therapy of primary immunodeficiency are progressing at a fast pace. This review examines recent developments in the field of inborn errors of immunity, from their definition to their treatment.
Giorgia Bucciol, Isabelle Meyts
doaj   +1 more source

Natural Variation of NAR5 Determines Nitrogenase Activity and the Yield in Soybean

Advanced Science, EarlyView.
This study identified NAR5, a gene encoding a subtilisin‐like protease, that regulates nitrogenase activity in soybean nodules. Overexpressing NAR5 delayed nodule senescence, enhancing nitrogenase activity, yield, and low‐nitrogen tolerance. The elite haplotype NAR5HapI‐1 linked to superior nitrogenase activity and greater seed weight has been ...
Chao Ma, Hanyu Zhao, Haojie Feng, Xulun Dong, Lin Chen, Mingliang Yang, Runyi Chen, Chengjun Lei, Chunyan Liu, Qingshan Chen, Dawei Xin, Jinhui Wang   +11 more
wiley   +1 more source

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 ...
Assiya El Kettani, Fatima Ailal, Jalila El Bakkouri, Khalid Zerouali, Vivien Béziat, Emmanuelle Jouanguy, Jean-Laurent Casanova, Ahmed Aziz Bousfiha   +7 more
doaj   +1 more source