The ever-increasing array of novel inborn errors of immunity: an interim update by the IUIS committee

SG Tangye, W Al-Herz, A Bousfiha… - Journal of clinical …, 2021 - Springer
The most recent updated classification of inborn errors of immunity/primary
immunodeficiencies, compiled by the International Union of Immunological Societies Expert …

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases

I Aksentijevich, O Schnappauf - Nature Reviews Rheumatology, 2021 - nature.com
Monogenic autoinflammatory diseases are a group of rheumatologic disorders caused by
dysregulation in the innate immune system. The molecular mechanisms of these disorders …

Human inborn errors of immunity: 2022 update on the classification from the international union of immunological societies expert committee

SG Tangye, W Al-Herz, A Bousfiha… - Journal of clinical …, 2022 - Springer
We report the updated classification of inborn errors of immunity, compiled by the
International Union of Immunological Societies Expert Committee. This report documents the …

Non-invasive modulation of meningeal lymphatics ameliorates ageing and Alzheimer's disease-associated pathology and cognition in mice

M Wang, C Yan, X Li, T Yang, S Wu, Q Liu… - Nature …, 2024 - nature.com
Meningeal lymphatic vessels (mLVs) have been shown to be involved in amyloid beta (Aβ)
clearance, which is considered as a potential therapeutic target for Alzheimer's disease …

WASP family proteins: Molecular mechanisms and implications in human disease

DA Kramer, HK Piper, B Chen - European journal of cell biology, 2022 - Elsevier
Abstract Proteins of the Wiskott-Aldrich syndrome protein (WASP) family play a central role
in regulating actin cytoskeletal dynamics in a wide range of cellular processes. Genetic …

Actin dynamics at the T cell synapse as revealed by immune-related actinopathies

L Dupré, K Boztug, L Pfajfer - Frontiers in cell and developmental …, 2021 - frontiersin.org
The actin cytoskeleton is composed of dynamic filament networks that build adaptable local
architectures to sustain nearly all cellular activities in response to a myriad of stimuli …

The link between rheumatic disorders and inborn errors of immunity

G Sogkas, T Witte - EBioMedicine, 2023 - thelancet.com
Inborn errors of immunity (IEIs) are immunological disorders characterized by variable
susceptibility to infections, immune dysregulation and/or malignancies, as a consequence of …

WAVE2 suppresses mTOR activation to maintain T cell homeostasis and prevent autoimmunity

M Liu, J Zhang, BD Pinder, Q Liu, D Wang, H Yao… - Science, 2021 - science.org
INTRODUCTION The essential role of actin cytoskeletal regulatory proteins in expression of
effective immune responses is exemplified by the impaired immunity manifested by patients …

New primary immunodeficiencies 2021 context and future

Y Demirdag, R Fuleihan, JS Orange… - Current Opinion in …, 2021 - journals.lww.com
New primary immunodeficiencies 2021 context and future : Current Opinion in Pediatrics New
primary immunodeficiencies 2021 context and future : Current Opinion in Pediatrics Log in or …

A proteome-wide association study identifies putative causal proteins for breast cancer risk

T Zhao, S Xu, J Ping, G Jia, Y Dou, JE Henry… - British Journal of …, 2024 - nature.com
Background Genome-wide association studies (GWAS) have identified more than 200
breast cancer risk-associated genetic loci, yet the causal genes and biological mechanisms …