Associated Papers
Case Report: Characterization of a RAC2 R68W homozygous activating mutation causing combined immune deficiency.
Desjardins A et al.
Frontiers in Immunology, 2026
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
[RAC2 gain-of-function mutations causing immunodeficiency drive activation of the NLRP3 inflammasome].
Doye A et al.
Medecine Sciences : M/s, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Vorsteveld EE et al.
Clinical Immunology (orlando, Fla.), 2024
RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation.
Doye A et al.
The Journal of Experimental Medicine, 2024
Inborn errors of immunity with kidney and urinary tract disorders: a review.
Shajari A et al.
International Urology and Nephrology, 2024
Phenotypic spectrum in a family with a novel RAC2 p.I21S dominant-activating mutation.
Ashby L et al.
Clinical & Translational Immunology, 2024
Hyperactive Rac stimulates cannibalism of living target cells and enhances CAR-M-mediated cancer cell killing.
Mishra AK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Not too little, not too much: the impact of mutation types in Wiskott-Aldrich syndrome and RAC2 patients.
Hsu AP
Clinical and Experimental Immunology, 2023
Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.
Duan X et al.
Journal of Clinical Immunology, 2023
A Novel RAC2 Mutation Causing Combined Immunodeficiency.
Zhang L et al.
Journal of Clinical Immunology, 2023
Recurrent switch 2 domain RAC2 mutations in intravascular large B-cell lymphoma.
Kodgule R et al.
Blood Advances, 2022
Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.
Zhang L et al.
Journal of Clinical Immunology, 2022
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
RHO GTPases: from new partners to complex immune syndromes.
El Masri R et al.
Nature Reviews. Immunology, 2021
A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency.
Lagresle-Peyrou C et al.
Haematologica, 2021
A Novel RAC2 Variant Presenting as Severe Combined Immunodeficiency.
Stern H et al.
Journal of Clinical Immunology, 2021
Active and Inactive Cdc42 Differ in Their Insert Region Conformational Dynamics.
Haspel N et al.
Biophysical Journal, 2021
When Actin is Not Actin' Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders.
Sprenkeler EGG et al.
Journal of Innate Immunity, 2021
The molecular basis for immune dysregulation by the hyperactivated E62K mutant of the GTPase RAC2.
Arrington ME et al.
The Journal of Biological Chemistry, 2020
RAC2 and primary human immune deficiencies.
Lougaris V et al.
Journal of Leukocyte Biology, 2020
Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects.
Hsu AP et al.
Blood, 2019
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji J et al.
Cold Spring Harbor Molecular Case Studies, 2019