Hematopoietic stem cell transplantation in primary immunodeficiency diseases: current status and future perspectives

R Castagnoli, OM Delmonte, E Calzoni… - Frontiers in …, 2019 - frontiersin.org
Primary immunodeficiencies (PID) are disorders that for the most part result from mutations
in genes involved in immune host defense and immunoregulation. These conditions are …

Monogenic autoinflammatory disorders: conceptual overview, phenotype, and clinical approach

PA Nigrovic, PY Lee, HM Hoffman - Journal of Allergy and Clinical …, 2020 - Elsevier
Autoinflammatory diseases are conditions in which pathogenic inflammation arises primarily
through antigen-independent hyperactivation of immune pathways. First recognized just …

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 …

Formation of neutrophil extracellular traps requires actin cytoskeleton rearrangements

EGG Sprenkeler, ATJ Tool, SSV Henriet… - Blood, The Journal …, 2022 - ashpublications.org
Neutrophils are important effector cells in the host defense against invading
microorganisms. One of the mechanisms they use to eliminate pathogens is the release of …

Actin remodeling defects leading to autoinflammation and immune dysregulation

R Papa, F Penco, S Volpi, M Gattorno - Frontiers in Immunology, 2021 - frontiersin.org
A growing number of monogenic immune-mediated diseases have been related to genes
involved in pathways of actin cytoskeleton remodeling. Increasing evidences associate …

Moving towards a systems-based classification of innate immune-mediated diseases

S Savic, EA Caseley, MF McDermott - Nature Reviews Rheumatology, 2020 - nature.com
Autoinflammation as a distinct disease category was first reported in 1999 as a group of
monogenic disorders characterized by recurrent episodes of systemic and organ-specific …

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 …

Loss of ARPC1B impairs cytotoxic T lymphocyte maintenance and cytolytic activity

LO Randzavola, K Strege, M Juzans, Y Asano… - The Journal of clinical …, 2019 - jci.org
CD8 cytotoxic T lymphocytes (CTLs) rely on rapid reorganization of the branched F-actin
network to drive the polarized secretion of lytic granules, initiating target cell death during …

Systemic autoinflammatory diseases: clinical state of the art

S Georgin-Lavialle, S Ducharme-Benard… - Best Practice & …, 2020 - Elsevier
Systemic autoinflammatory diseases (SAIDs) are defined as disorders of innate immunity.
They were initially defined in opposition to autoimmune diseases due to the lack of …

[HTML][HTML] Branching out in different directions: Emerging cellular functions for the Arp2/3 complex and WASP-family actin nucleation factors

KG Campellone, NM Lebek, VL King - European journal of cell biology, 2023 - Elsevier
The actin cytoskeleton impacts practically every function of a eukaryotic cell. Historically, the
best-characterized cytoskeletal activities are in cell morphogenesis, motility, and division …