Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

Cuchet-Lourenço, D., Eletto, D., Wu, C., Plagnol, V., Papapietro, O., Curtis, J., Ceron-Gutierrez, L., Bacon, C. M., Hackett, S., Alsaleem, B., Maes, M., Gaspar, M., Alisaac, A., Goss, E., AlIdrissi, E., Siegmund, D., Wajant, H., Kumararatne, D., AlZahrani, M. S., Arkwright, P. D., & 3 othersAbinun, M., Doffinger, R. & Nejentsev, S., 24 Aug 2018, In: Science. 361, 6404, p. 810-813 4 p.

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Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

Angulo, I., Vadas, O., Garçon, F., Banham-Hall, E., Plagnol, V., Leahy, T. R., Baxendale, H., Coulter, T., Curtis, J., Wu, C., Blake-Palmer, K., Perisic, O., Smyth, D., Maes, M., Fiddler, C., Juss, J., Cilliers, D., Markelj, G., Chandra, A., Farmer, G., & 24 othersKielkowska, A., Clark, J., Kracker, S., Debré, M., Picard, C., Pellier, I., Jabado, N., Morris, J. A., Barcenas-Morales, G., Fischer, A., Stephens, L., Hawkins, P., Barrett, J. C., Abinun, M., Clatworthy, M., Durandy, A., Doffinger, R., Chilvers, E. R., Cant, A. J., Kumararatne, D., Okkenhaug, K., Williams, R. L., Condliffe, A. & Nejentsev, S., 15 Nov 2013, In: Science. 342, 6160, p. 866-71 6 p.

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Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration

Curtis, J., Luo, Y., Zenner, H. L., Cuchet-Lourenço, D., Wu, C., Lo, K., Maes, M., Alisaac, A., Stebbings, E., Liu, J. Z., Kopanitsa, L., Ignatyeva, O., Balabanova, Y., Nikolayevskyy, V., Baessmann, I., Thye, T., Meyer, C. G., Nürnberg, P., Horstmann, R. D., Drobniewski, F., & 3 othersPlagnol, V., Barrett, J. C. & Nejentsev, S., May 2015, In: Nature Genetics. 47, 5, p. 523-527 5 p.

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Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

Eletto, D., Burns, S. O., Angulo, I., Plagnol, V., Gilmour, K. C., Henriquez, F., Curtis, J., Gaspar, M., Nowak, K., Daza-Cajigal, V., Kumararatne, D., Doffinger, R., Thrasher, A. J. & Nejentsev, S., 23 Dec 2016, In: Nature communications. 7, p. 13992

Research output: Contribution to journal › Article › Academic › peer-review

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ

Burns, S. O., Plagnol, V., Gutierrez, B. M., Al Zahrani, D., Curtis, J., Gaspar, M., Hassan, A., Jones, A. M., Malone, M., Rampling, D., McLatchie, A., Doffinger, R., Gilmour, K. C., Henriquez, F., Thrasher, A. J., Gaspar, H. B. & Nejentsev, S., Jul 2014, In: Journal of allergy and clinical immunology. 134, 1, p. 215-8 4 p.

Research output: Contribution to journal › Article › Academic › peer-review