Associated Papers
Interpreting the functional impact of genetic variants: The need for context qualifiers.
Martinelli S et al.
American Journal of Human Genetics, 2026
Dysregulation of inflammasomes in autoinflammatory diseases.
Hou C et al.
Joint Bone Spine, 2025
CDC42 missense mutations and human diseases: from neurodevelopmental disorders to autoinflammation.
Yasumi T
Journal of Biochemistry, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.
Gök V et al.
Research and Practice in Thrombosis and Haemostasis, 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
Novel Molecular Therapies and Genetic Landscape in Selected Rare Diseases with Hematologic Manifestations: A Review of the Literature.
Ręka G et al.
Cells, 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 hyperinflammatory spectrum: from defects in cytotoxicity to cytokine control.
Planas R et al.
Frontiers in Immunology, 2023
The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.
La Bella S et al.
Frontiers in Immunology, 2023
Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders.
Coppola S et al.
The Journal of Allergy and Clinical Immunology, 2022
Hematopoietic stem cell transplantation in systemic autoinflammatory diseases - the first one hundred transplanted patients.
Signa S et al.
Expert Review of Clinical Immunology, 2022
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
Pathogenic roles and diagnostic utility of interleukin-18 in autoinflammatory diseases.
Shimizu M et al.
Frontiers in Immunology, 2022
Selectivity Determinants of RHO GTPase Binding to IQGAPs.
Mosaddeghzadeh N et al.
International Journal of Molecular Sciences, 2021
Infection and autoinflammation in inborn errors of immunity: brothers in arms.
Delafontaine S et al.
Current Opinion in Immunology, 2021
RHO GTPases: from new partners to complex immune syndromes.
El Masri R et al.
Nature Reviews. Immunology, 2021
Small Rho GTPases and their associated RhoGEFs mutations promote immunological defects in primary immunodeficiencies.
Hashim IF et al.
The International Journal of Biochemistry & Cell Biology, 2021
Aplasia cutis congenita in a CDC42-related developmental phenotype.
Schnabel F et al.
American Journal of Medical Genetics. Part A, 2021
Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum.
Asiri A et al.
Genes, 2021
Inborn errors of immunity with atopic phenotypes: A practical guide for allergists.
Castagnoli R et al.
The World Allergy Organization Journal, 2021
Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency.
Politiek FA et al.
Frontiers in Immunology, 2021
[An abnormal palmitoylation arising from a mutation of CDC42 results in a severe autoinflammatory syndrome].
El Masri R et al.
Medecine Sciences : M/s, 2020
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