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1
RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency.
J Allergy Clin Immunol. 2015 May;135(5):1380-4.e1-5. doi: 10.1016/j.jaci.2014.10.039. Epub 2014 Dec 12.
2
Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects.
Blood. 2019 May 2;133(18):1977-1988. doi: 10.1182/blood-2018-11-886028. Epub 2019 Feb 5.
3
Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.
Proc Natl Acad Sci U S A. 2000 Apr 25;97(9):4654-9. doi: 10.1073/pnas.080074897.
4
Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.
J Clin Immunol. 2022 Aug;42(6):1280-1292. doi: 10.1007/s10875-022-01288-4. Epub 2022 May 21.
6
A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency.
J Allergy Clin Immunol. 2019 Apr;143(4):1649-1653.e3. doi: 10.1016/j.jaci.2019.01.001. Epub 2019 Jan 14.
7
RAC2 and primary human immune deficiencies.
J Leukoc Biol. 2020 Aug;108(2):687-696. doi: 10.1002/JLB.5MR0520-194RR. Epub 2020 Jun 15.
8
Clinical and functional spectrum of RAC2-related immunodeficiency.
Blood. 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098.
9
Biochemical and biological characterization of a human Rac2 GTPase mutant associated with phagocytic immunodeficiency.
J Biol Chem. 2001 May 11;276(19):15929-38. doi: 10.1074/jbc.M010445200. Epub 2001 Feb 22.

引用本文的文献

1
Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry.
Front Genet. 2025 Aug 8;16:1584681. doi: 10.3389/fgene.2025.1584681. eCollection 2025.
2
Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.
Hum Mutat. 2025 Apr 15;2025:1725906. doi: 10.1155/humu/1725906. eCollection 2025.
3
The Role of RAC2 and PTTG1 in Cancer Biology.
Cells. 2025 Feb 23;14(5):330. doi: 10.3390/cells14050330.
4
RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation.
J Exp Med. 2024 Oct 7;221(10). doi: 10.1084/jem.20231562. Epub 2024 Aug 30.
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Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era.
J Clin Med. 2024 Jul 29;13(15):4435. doi: 10.3390/jcm13154435.
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Hem1 inborn errors of immunity: waving goodbye to coordinated immunity in mice and humans.
Front Immunol. 2024 Jul 4;15:1402139. doi: 10.3389/fimmu.2024.1402139. eCollection 2024.
7
BTK drives neutrophil activation for sterilizing antifungal immunity.
J Clin Invest. 2024 May 2;134(12):e176142. doi: 10.1172/JCI176142.
9
Case Report: Profound newborn leukopenia related to a novel RAC2 variant.
Front Pediatr. 2024 Mar 7;12:1365187. doi: 10.3389/fped.2024.1365187. eCollection 2024.
10

本文引用的文献

1
Hematopoietic-specific Rho GTPases Rac2 and RhoH and human blood disorders.
Exp Cell Res. 2013 Sep 10;319(15):2375-83. doi: 10.1016/j.yexcr.2013.07.002. Epub 2013 Jul 11.
2
Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia.
J Allergy Clin Immunol. 2011 Feb;127(2):535-538.e1-2. doi: 10.1016/j.jaci.2010.10.013. Epub 2010 Dec 16.
3
Common variable immunodeficiency disorders: division into distinct clinical phenotypes.
Blood. 2008 Jul 15;112(2):277-86. doi: 10.1182/blood-2007-11-124545. Epub 2008 Mar 4.
4
Variable phenotypic expression of mutations in genes of the immune system.
J Clin Invest. 2005 Nov;115(11):2974-6. doi: 10.1172/JCI26956.
5
Critical roles for Rac1 and Rac2 GTPases in B cell development and signaling.
Science. 2003 Oct 17;302(5644):459-62. doi: 10.1126/science.1089709.
7
Clinical features of a human Rac2 mutation: a complex neutrophil dysfunction disease.
J Pediatr. 2001 Jul;139(1):141-7. doi: 10.1067/mpd.2001.114718.
8
Biochemical and biological characterization of a human Rac2 GTPase mutant associated with phagocytic immunodeficiency.
J Biol Chem. 2001 May 11;276(19):15929-38. doi: 10.1074/jbc.M010445200. Epub 2001 Feb 22.
10
Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.
Proc Natl Acad Sci U S A. 2000 Apr 25;97(9):4654-9. doi: 10.1073/pnas.080074897.

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