The DOI matches its Crossref record; 18 of the 18 references it cites were found in a registry or an index.
The infevers autoinflammatory mutation online registry: update with new genes and functions
Open accessAbstract
Infevers (Internet Fevers; http://fmf.igh.cnrs.fr/ISSAID/infevers), a website dedicated to mutations responsible for hereditary autoinflammatory diseases, was created in 2002 and has continued to evolve. This new version includes eight genes; six were already present: MEFV, MVK, TNFRSF1A, NLRP3, NOD2, PSTPIP1, and two are new, LPIN2 and NLRP7. Currently, Infevers contains over 540 sequence variants. Several new database functions were recently instituted. The website now accepts confidential data and complex alleles. For each gene, a newly created menu offers: 1) a tabular list of the variants that can be sorted by several parameters; 2) a gene graph providing a schematic representation of the variants along the gene; 3) statistical analysis of the data according to the phenotype, alteration type, and location of the mutation in the gene; 4) the cDNA and gDNA sequences of each gene, showing the nucleotide changes along the sequence, with a color-based code highlighting the gene domains, the first ATG, and the termination codon; and 5) a "download" menu making all tables and figures available for the users, which, except for the gene graphs, are all automatically generated and updated upon submission of the variants. Finally, the entire database was curated to comply with the HUGO Gene Nomenclature Committee (HGNC) and HGVS nomenclature guidelines, and wherever necessary, an informative note was provided. Infevers has already proven useful for the scientific community with a mean number of visits per month of 200 in 2002 and 800 in 2007, and its new design will lead to a more comprehensive comparative analysis and interpretation of auto-inflammatory sequence variants.
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Cites
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
Hugot, J.-P., Chamaillard, M., Zouali, H., Lesage, S., Cézard, J.-P., Belaiche, J., Almer, S., Tysk, C., O'Morain, C. A., Gassull, M., et al. (2001) · Nature · doi:10.1038/35079107 · Cited by 5,591
Self-citationMutation nomenclature extensions and suggestions to describe complex mutations: A discussion
Dunnen, J. T. D., & Antonarakis, S. E. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200001)15:1<7::aid-humu4>3.0.co;2-n · Cited by 1,756
Hoffman, H. M., Mueller, J. L., Broide, D. H., Wanderer, A. A., & Kolodner, R. D. (2001) · Nature Genetics · doi:10.1038/ng756 · Cited by 1,682
Self-citationMcDermott, M. F., Aksentijevich, I., Galon, J., McDermott, E. M., Ogunkolade, B. W., Centola, M., Mansfield, E., Gadina, M., Karenko, L., Pettersson, T., et al. (1999) · Cell · doi:10.1016/s0092-8674(00)80721-7 · Cited by 1,408
Self-citationCARD15 mutations in Blau syndrome
Miceli-Richard, C., Lesage, S., Rybojad, M., Prieur, A.-M., Manouvrier-Hanu, S., Häfner, R., Chamaillard, M., Zouali, H., Thomas, G., & Hugot, J.-P. (2001) · Nature Genetics · doi:10.1038/ng720 · Cited by 969
Self-citationNALP1 in Vitiligo-Associated Multiple Autoimmune Disease
Jin, Y., Mailloux, C. M., Gowan, K., Riccardi, S. L., LaBerge, G., Bennett, D. C., Fain, P. R., & Spritz, R. A. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa061592 · Cited by 630
Shoham, N. G., Centola, M., Mansfield, E., Hull, K. M., Wood, G., Wise, C. A., & Kastner, D. L. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2135380100 · Cited by 493
Self-citationMutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans
Murdoch, S., Djuric, U., Mazhar, B., Seoud, M., Khan, R., Kuick, R., Bagga, R., Kircheisen, R., Ao, A., Ratti, B., et al. (2006) · Nature Genetics · doi:10.1038/ng1740 · Cited by 489
Self-citationFerguson, P. J., Chen, S., Tayeh, M. K., Ochoa, L., Leal, S. M., Pelet, A., Munnich, A., Lyonnet, S., Majeed, H. A., & El-Shanti, H. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.030759 · Cited by 405
Self-citationAganna, E., Martinon, F., Hawkins, P. N., Ross, J. B., Swan, D. C., Booth, D. R., Lachmann, H. J., Gaudet, R., Woo, P., Feighery, C., et al. (2002) · Arthritis & Rheumatism · doi:10.1002/art.10509 · Cited by 367
Cited by
The role of inflammasomes in kidney disease
Komada, T., & Muruve, D. A. (2019) · Nature Reviews Nephrology · doi:10.1038/s41581-019-0158-z · Cited by 304
The Inflammasomes and Autoinflammatory Syndromes
Broderick, L., De Nardo, D., Franklin, B. S., Hoffman, H. M., & Latz, E. (2015) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-012414-040431 · Cited by 295
Self-citationPRESCOTT: a population aware, epistatic, and structural model accurately predicts missense effects
Tekpinar, M., David, L., Henry, T., & Carbone, A. (2025) · Genome Biology · doi:10.1186/s13059-025-03581-y · Cited by 18
Metadata
- Authors
- Milhavet, F., Cuisset, L., Hoffman, H. M., Slim, R., El-Shanti, H., Aksentijevich, I., Lesage, S., Waterham, H., Wise, C., Sarrauste de Menthiere, C., & Touitou, I.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2008-06
- Volume
- 29
- Issue
- 6
- Pages
- 803-808
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W1978034623
- Cited by
- 280
- References
- 18
- FWCI
- 6.08
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- CoChat. (2026). Citation check: The infevers autoinflammatory mutation online registry: update with new genes and functions. https://app.cochat.ai/papers/10.1002/humu.20720
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- Milhavet, F., Cuisset, L., Hoffman, H. M., Slim, R., El-Shanti, H., Aksentijevich, I., Lesage, S., Waterham, H., Wise, C., Sarrauste de Menthiere, C., & Touitou, I. (2008). The infevers autoinflammatory mutation online registry: update with new genes and functions. Human Mutation. https://doi.org/10.1002/humu.20720
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