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Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia
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In the citing paper
“Mutations within the coding region of RAC2 and more recently RHOH have been identified in patients presenting with disorders restricted to the immune system53,23,54,34.”
From Hematopoietic-specific Rho GTPases Rac2 and RhoH and human blood disorders (2013) · cites this paper as [54]
In the citing paper
“Interestingly, alterations in both proteins have recently also been implicated in human diseases of immune function.”
From Hematopoietic-specific Rho GTPases Rac2 and RhoH and human blood disorders (2013) · cites this paper as [54]
In the citing paper
“Interestingly a second patient who had also spontaneously acquired the same RAC2 mutation was ascertained by SCID newborn screening due to abnormal T cell parameters, but otherwise had a very similar phenotype54.”
From Hematopoietic-specific Rho GTPases Rac2 and RhoH and human blood disorders (2013) · cites this paper as [54]
In the citing paper
“Whereas the first patient reported in 2000 presented with clinical symptoms that closely resembled the phenotype observed in Rac2−/− mice”
From Hematopoietic-specific Rho GTPases Rac2 and RhoH and human blood disorders (2013) · cites this paper as [54]
In the citing paper
“patient 2 had only mild T cell lymphopenia with a modest increase in T cells that displayed an effector memory phenotype in this newborn54.”
From Hematopoietic-specific Rho GTPases Rac2 and RhoH and human blood disorders (2013) · cites this paper as [54]
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Research works printed but not linked: 14
- Chan, 2005, Development of population-based newborn screening for severe combined immunodeficiency, J Allergy Clin Immunol, 115, 391, 10.1016/j.jaci.2004.10.012 · DOI
- Routes, 2009, Statewide newborn screening for severe T-cell lymphopenia, JAMA, 302, 2465, 10.1001/jama.2009.1806 · DOI · Paper page
- Selvatici, 2006, Signal transduction pathways triggered by selective formylpeptide analogues in human neutrophils, Eur J Pharmacol, 534, 1, 10.1016/j.ejphar.2006.01.034 · DOI
- Svensson, 2009, Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation, Nat Med, 15, 306, 10.1038/nm.1931 · DOI
- Ambruso, 2000, Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation, Proc Natl Acad Sci U S A, 97, 4654, 10.1073/pnas.080074897 · DOI · Paper page
- Williams, 2000, Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency, Blood, 96, 1646
- Cancelas, 2009, Rho GTPases in hematopoietic stem cell functions, Curr Opin Hematol, 16, 249, 10.1097/MOH.0b013e32832c4b80 · DOI
- Gu, 2001, Biochemical and biological characterization of a human Rac2 GTPase mutant associated with phagocytic immunodeficiency, J Biol Chem, 276, 15929, 10.1074/jbc.M010445200 · DOI · Paper page
- Heasman, 2008, Mammalian Rho GTPases: new insights into their functions from in vivo studies, Nat Rev Mol Cell Biol, 9, 690, 10.1038/nrm2476 · DOI · Paper page
- Roberts, 1999, Deficiency of the hematopoietic cell-specific Rho family GTPase Rac2 is characterized by abnormalities in neutrophil function and host defense, Immunity, 10, 183, 10.1016/S1074-7613(00)80019-9 · DOI · Paper page
- Guo, 2008, Rac GTPase isoforms Rac1 and Rac2 play a redundant and crucial role in T-cell development, Blood, 112, 1767, 10.1182/blood-2008-01-132068 · DOI · Paper page
- Sato, 2009, Rac GTPases are involved indevelopment, survival and homeostasis of T cells, Immunol Lett, 124, 27, 10.1016/j.imlet.2009.03.014 · DOI
- Baker, 2009, Development of a routine newborn screening protocol for severe combined immunodeficiency, J Allergy Clin Immunol, 124, 522, 10.1016/j.jaci.2009.04.007 · DOI
- Lokuta, 2007, Type Igamma PIP kinase is a novel uropod component that regulates rear retraction during neutrophil chemotaxis, Mol Biol Cell, 18, 5069, 10.1091/mbc.e07-05-0428 · DOI
Cited by
RHO GTPases: from new partners to complex immune syndromes
El Masri, R., & Delon, J. (2021) · Nature Reviews Immunology · doi:10.1038/s41577-021-00500-7 · Cited by 131
Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects
Hsu, A. P., Donkó, A., Arrington, M. E., Swamydas, M., Fink, D., Das, A., Escobedo, O., Bonagura, V., Szabolcs, P., Steinberg, H. N., et al. (2019) · Blood · doi:10.1182/blood-2018-11-886028 · Cited by 92
Hematopoietic-specific Rho GTPases Rac2 and RhoH and human blood disorders
Troeger, A., & Williams, D. A. (2013) · Experimental Cell Research · doi:10.1016/j.yexcr.2013.07.002 · Cited by 73
Davis, J. M., Huang, M., Botts, M. R., Hull, C. M., & Huttenlocher, A. (2016) · Infection and Immunity · doi:10.1128/iai.00506-16 · Cited by 62
Self-citationKamnev, A., Lacouture, C., Fusaro, M., & Dupré, L. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.750537 · Cited by 38
Lagresle-Peyrou, C., Olichon, A., Sadek, H., Roche, P., Tardy, C., Silva, C. D., Garrigue, A., Fischer, A., Moshous, D., Collette, Y., et al. (2020) · Haematologica · doi:10.3324/haematol.2019.230250 · Cited by 35
RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation
Doye, A., Chaintreuil, P., Lagresle-Peyrou, C., Batistic, L., Marion, V., Munro, P., Loubatier, C., Chirara, R., Sorel, N., Bessot, B., et al. (2024) · Journal of Experimental Medicine · doi:10.1084/jem.20231562 · Cited by 12
Metadata
- Authors
- Accetta, D., Syverson, G., Bonacci, B., Reddy, S., Bengtson, C., Surfus, J., Harbeck, R., Huttenlocher, A., Grossman, W., Routes, J., & Verbsky, J.
- Venue
- Journal of Allergy and Clinical Immunology
- Publisher
- Elsevier BV
- Published
- 2011-02
- Volume
- 127
- Issue
- 2
- Pages
- 535-538.e2
- ISSN
- 0091-6749
- Cited by
- 95
- References
- 0
- Language
- en
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