The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
A Novel RAC2 Variant Presenting as Severe Combined Immunodeficiency
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Integrity signals
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Cites
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Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Interestingly, among the patients with different forms of primary immunodeficiencies associated with RAC2 mutations, >75% (15/19) had a gain-of-function mutation (Stern et al., 2021).”
From RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation (2024) · cites this paper as Stern et al., 2021
In the citing paper
“The most striking example is the RAC2 Q61R variant that affects the same residue (Stern et al., 2021).”
From RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation (2024) · cites this paper as Stern et al., 2021
Citations
Cites
The Structural Basis of Oncogenic Mutations G12, G13 and Q61 in Small GTPase K-Ras4B
Lu, S., Jang, H., Nussinov, R., & Zhang, J. (2016) · Scientific Reports · doi:10.1038/srep21949 · Cited by 219
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
Self-citationLagresle-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
Research works printed but not linked: 8
- Ambruso DR, Knall C, Abell AN, Panepinto J, Kurkchubasche A, Thurman G, et al. Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc Natl Acad Sci U S A. 2000;97(9):4654–9. · DOI · Paper page
- Accetta D, Syverson G, Bonacci B, Reddy S, Bengtson C, Surfus J, et al. Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia. J Allergy Clin Immunol. 2011;127(2):535–8 e1–2. · DOI · Paper page
- Alkhairy OK, Rezaei N, Graham RR, Abolhassani H, Borte S, Hultenby K, et al. RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency. J Allergy Clin Immunol. 2015;135(5):1380–4 e1–5. · DOI · Paper page
- Lougaris V, Chou J, Beano A, Wallace JG, Baronio M, Gazzurelli L, et al. A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency. J Allergy Clin Immunol. 2019;143(4):1649–53 e3. · DOI
- Smits BM, Lelieveld PHC, Ververs FA, Turkenburg M, de Koning C, van Dijk M, et al. A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease. Clin Immunol. 2019;12:108248.
- Sharapova SO, Haapaniemi E, Sakovich IS, Kostyuchenko LV, Donkó A, Dulau-Florea A, et al. Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections. Clin Immunol. 2019;205:1–5. · DOI
- Cherfils J, Zeghouf M. Regulation of small GTPases by GEFs, GAPs, and GDIs. Physiol Rev. 2013;93(1):269–309. · DOI · Paper page
- Burd CE, Liu W, Huynh MV, Waqas MA, Gillahan JE, Clark KS, et al. Mutation-specific RAS oncogenicity explains NRAS codon 61 selection in melanoma. Cancer Discov. 2014;4(12):1418–29. · DOI
Cited by
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
- Stern, H., Donkó, A., Shapiro, T., Hsu, A. P., Leto, T. L., Holland, S. M., & Andreae, D. A.
- Venue
- Journal of Clinical Immunology
- Published
- 2020-11-13
- Volume
- 41
- Issue
- 2
- Pages
- 473-476
- ISSN
- 0271-9142
- 1573-2592
- Cited by
- 15
- References
- 3
- Language
- en
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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