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 …

Primary immune regulatory disorders: a growing universe of immune dysregulation

AY Chan, TR Torgerson - Current opinion in allergy and clinical …, 2020 - journals.lww.com
It is important to recognize the broad clinical manifestations of PIRD as patients may have
symptoms atypical of classical 'immunodeficiency'. Because of their diverse immune …

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 …

WAVE regulatory complex

K Rottner, TEB Stradal, B Chen - Current Biology, 2021 - cell.com
Dynamic rearrangement of the actin cytoskeleton drives a myriad of processes in eukaryotic
cells, such as cell migration and vesicle trafficking, and its dysregulation is deeply …

Systemic inflammation and normocytic anemia in DOCK11 deficiency

J Block, C Rashkova, I Castanon, S Zoghi… - … England Journal of …, 2023 - Mass Medical Soc
Background Increasing evidence links genetic defects affecting actin-regulatory proteins to
diseases with severe autoimmunity and autoinflammation, yet the underlying molecular …

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 actin cytoskeleton responds to inflammatory cues and alters macrophage activation

E Ronzier, AJ Laurenson, R Manickam, S Liu… - Cells, 2022 - mdpi.com
Much remains to be learned about the molecular mechanisms underlying a class of human
disorders called actinopathies. These genetic disorders are characterized by loss-of-function …

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 …

Diagnostic challenges in patients with inborn errors of immunity with different manifestations of immune dysregulation

K Pieniawska-Śmiech, G Pasternak… - Journal of Clinical …, 2022 - mdpi.com
Inborn errors of immunity (IEI), formerly known as primary immunodeficiency disorders
(PIDs), are inherited disorders caused by damaging germline variants in single genes …