Associated Papers
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
Case Report: Profound newborn leukopenia related to a novel RAC2 variant.
Hall G et al.
Frontiers in Pediatrics, 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
Identification of Altered Primary Immunodeficiency-Associated Genes and Their Implications in Pediatric Cancers.
Standing S et al.
Cancers, 2022
Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.
Zhang L et al.
Journal of Clinical Immunology, 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
A Novel RAC2 Variant Presenting as Severe Combined Immunodeficiency.
Stern H et al.
Journal of Clinical Immunology, 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
RAC2 and primary human immune deficiencies.
Lougaris V et al.
Journal of Leukocyte Biology, 2020
KRAS codon 12 and 13 mutations in relation to disease-free survival in BRAF-wild-type stage III colon cancers from an adjuvant chemotherapy trial (N0147 alliance).
Yoon HH et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2014
Impact of the specific mutation in KRAS codon 12 mutated tumors on treatment efficacy in patients with metastatic colorectal cancer receiving cetuximab-based first-line therapy: a pooled analysis of three trials.
Modest DP et al.
Oncology, 2012
Detection of KRAS and BRAF mutations in colorectal carcinoma roles for high-sensitivity locked nucleic acid-PCR sequencing and broad-spectrum mass spectrometry genotyping.
Arcila M et al.
The Journal of Molecular Diagnostics : Jmd, 2011