Associated Papers
A Novel Gain-of-Function RAC2 Variant (p.Y64H) Associated With Lymphopenia and Leukopenia.
Haliloğlu Y et al.
Pediatric Blood & Cancer, 2026
Case Report: Characterization of a RAC2 R68W homozygous activating mutation causing combined immune deficiency.
Desjardins A et al.
Frontiers in Immunology, 2026
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
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
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
Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.
Zhang L et al.
Journal of Clinical Immunology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
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
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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 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
2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2020
Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects.
Hsu AP et al.
Blood, 2019
A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency.
Lougaris V et al.
The Journal of Allergy and Clinical Immunology, 2019
Primary immunodeficiencies caused by mutations in actin regulatory proteins.
Janssen E et al.
Immunological Reviews, 2019
Association Analysis of Single Nucleotide Polymorphisms in C1QTNF6, RAC2, and an Intergenic Region at 14q32.2 with Graves' Disease in Chinese Han Population.
Zhang XH et al.
Genetic Testing and Molecular Biomarkers, 2017
RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency.
Alkhairy OK et al.
The Journal of Allergy and Clinical Immunology, 2015
Actin cytoskeletal defects in immunodeficiency.
Moulding DA et al.
Immunological Reviews, 2013
Hematopoietic-specific Rho GTPases Rac2 and RhoH and human blood disorders.
Troeger A et al.
Experimental Cell Research, 2013
Rac2-deficiency leads to exacerbated and protracted colitis in response to Citrobacter rodentium infection.
Fattouh R et al.
Plos One, 2013
Dual roles for Rac2 in neutrophil motility and active retention in zebrafish hematopoietic tissue.
Deng Q et al.
Developmental Cell, 2011
RAC2 GTPase deficiency and myeloid cell dysfunction in human and mouse.
Gu Y et al.
Journal of Pediatric Hematology/oncology, 2002
Biochemical and biological characterization of a human Rac2 GTPase mutant associated with phagocytic immunodeficiency.
Gu Y et al.
The Journal of Biological Chemistry, 2001
Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency.
Williams DA et al.
Blood, 2000