Abstract
We have identified three missense mutations in the nucleotide-binding domain (NBD) of CARD15/NOD2 in four French and German families with Blau syndrome. Our findings indicate that, in addition to Crohn disease, CARD15 is involved in the susceptibility to a second granulomatous disorder.
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References
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Acknowledgements
We thank the patients and their families who participated in this study. We acknowledge P. Pasturaud, C. Vaury, T.H. Bui, F. Merlin and M. Legrand for technical assistance. We thank L. Pascoe for critically reading the manuscript. This work was supported by the Association de recherche sur les polyarthrites (ARP).
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Miceli-Richard, C., Lesage, S., Rybojad, M. et al. CARD15 mutations in Blau syndrome. Nat Genet 29, 19–20 (2001). https://doi.org/10.1038/ng720
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DOI: https://doi.org/10.1038/ng720
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