The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency
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“More recently, a pair of consanguineous siblings was described with homozygous null RAC2 alleles (p.W56X), who had lymphopenia and recurrent sinopulmonary infections, clinically diagnosed as common variable immunodeficiency.7”
From Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects (2019) · cites this paper as [7]
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Citations
Cites
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
Self-citation
Research works printed but not linked: 18
- Chapel, 2008, Common variable immunodeficiency disorders: division into distinct clinical phenotypes, Blood, 112, 277, 10.1182/blood-2007-11-124545 · 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
- Kurkchubasche, 2001, Clinical features of a human Rac2 mutation: a complex neutrophil dysfunction disease, J Pediatr, 139, 141, 10.1067/mpd.2001.114718 · DOI · Paper page
- Accetta, 2011, Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia, J Allergy Clin Immunol, 127, 535, 10.1016/j.jaci.2010.10.013 · 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
- 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
- Walmsley, 2003, Critical roles for Rac1 and Rac2 GTPases in B cell development and signaling, Science, 302, 459, 10.1126/science.1089709 · DOI · Paper page
- Gu, 2002, Rac2, a hematopoiesis-specific Rho GTPase, specifically regulates mast cell protease gene expression in bone marrow-derived mast cells, Mol Cell Biol, 22, 7645, 10.1128/MCB.22.21.7645-7657.2002 · DOI
- Buckley, 2005, Variable phenotypic expression of mutations in genes of the immune system, J Clin Invest, 115, 2974, 10.1172/JCI26956 · DOI
- Abolhassani, 2014, A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency, J Allergy Clin Immunol, 134, 1375, 10.1016/j.jaci.2014.04.042 · DOI
- Rezaei, 2010, Serum bactericidal antibody response 1 year after meningococcal polysaccharide vaccination of patients with common variable immunodeficiency, Clin Vaccine Immunol, 17, 524, 10.1128/CVI.00389-09 · DOI
- Arandi, 2013, Evaluation of CD4+CD25+FOXP3+ regulatory T cells function in patients with common variable immunodeficiency, Cell Immunol, 281, 129, 10.1016/j.cellimm.2013.03.003 · DOI
- Oraei, 2012, Naive CD4+ T cells and recent thymic emigrants in common variable immunodeficiency, J Investig Allergol Clin Immunol, 22, 160
- Leavey, 1998, In vivo treatment with granulocyte colony-stimulating factor results in divergent effects on neutrophil functions measured in vitro, Blood, 92, 4366, 10.1182/blood.V92.11.4366 · DOI
- Boldt, 2014, Eight-color immunophenotyping of T-, B-, and NK-cell subpopulations for characterization of chronic immunodeficiencies, Cytometry B Clin Cytom, 86, 191, 10.1002/cytob.21162 · 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
- Kurkchubasche, 2001, Clinical features of a human Rac2 mutation: a complex neutrophil dysfunction disease, J Pediatr, 139, 141, 10.1067/mpd.2001.114718 · DOI · Paper page
- Accetta, 2011, Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia, J Allergy Clin Immunol, 127, 535, 10.1016/j.jaci.2010.10.013 · DOI · Paper page
Cited by
Roos, D. (2016) · British Medical Bulletin · doi:10.1093/bmb/ldw009 · Cited by 212
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
Kamnev, 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
Metadata
- Authors
- Alkhairy, O. K., Rezaei, N., Graham, R. R., Abolhassani, H., Borte, S., Hultenby, K., Wu, C., Aghamohammadi, A., Williams, D. A., Behrens, T. W., Hammarström, L., & Pan-Hammarström, Q.
- Venue
- Journal of Allergy and Clinical Immunology
- Publisher
- Elsevier BV
- Published
- 2015-05
- Volume
- 135
- Issue
- 5
- Pages
- 1380-1384.e5
- ISSN
- 0091-6749
- PMC
- PMC4426222
- Cited by
- 108
- References
- 1
- Language
- en
- Licence
- Funders
- European Research Council (242551 -ImmunoSwitch)
- Bundesministerium für Bildung und Forschung (1315883)
- National Institutes of Health (5R01DK062757-12)
- Cancerfonden
- Vetenskapsrådet
- Jeffrey Modell Foundation
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- CoChat. (2026). Citation check: RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency. https://app.cochat.ai/papers/10.1016/j.jaci.2014.10.039
- The paper
- Alkhairy, O. K., Rezaei, N., Graham, R. R., Abolhassani, H., Borte, S., Hultenby, K., Wu, C., Aghamohammadi, A., Williams, D. A., Behrens, T. W., Hammarström, L., & Pan-Hammarström, Q. (2015). RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency. Journal of Allergy and Clinical Immunology. https://doi.org/10.1016/j.jaci.2014.10.039
