Associated Papers
Dysregulation of inflammasomes in autoinflammatory diseases.
Hou C et al.
Joint Bone Spine, 2025
Current landscape of monogenic autoinflammatory actinopathies: A literature review.
Mertz P et al.
Autoimmunity Reviews, 2025
Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.
Iannuzzo A et al.
Nature Communications, 2024
Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene.
Varea I et al.
Stem Cell Research, 2024
Genetics of Primary Hemophagocytic Lymphohistiocytosis.
Karageorgos S et al.
Advances in Experimental Medicine and Biology, 2024
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity.
Assing K et al.
Journal of Clinical Immunology, 2023
[Monogenic auto-inflammatory diseases associated with actinopathies: A review of the literature].
Mertz P et al.
La Revue De Medecine Interne, 2023
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Kapp FG et al.
Clinical Immunology (orlando, Fla.), 2023
A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation.
van Wijck RTA et al.
Journal of Clinical Immunology, 2023
The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.
La Bella S et al.
Frontiers in Immunology, 2023
Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation.
Nishitani-Isa M et al.
The Journal of Experimental Medicine, 2022
Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18.
Miyazawa H et al.
Frontiers in Immunology, 2022
Aplasia cutis congenita in a CDC42-related developmental phenotype.
Schnabel F et al.
American Journal of Medical Genetics. Part A, 2021
Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation.
Bucciol G et al.
Journal of Clinical Immunology, 2020
A New Patient with NOCARH Syndrome Due to CDC42 Defect.
He T et al.
Journal of Clinical Immunology, 2020
Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1β inhibition.
Gernez Y et al.
The Journal of Allergy and Clinical Immunology, 2019