CTLA4 haploinsufficiency caused by a novel heterozygous splice site mutation

Lo, B., Zhang, K., Lu, W., Zheng, L., Zhang, Q., Kanellopoulou, C., Zhang, Y., Liu, Z., Fritz, J.M., Marsh, R., Husami, A., Kissell, D., Nortman, S., Chaturvedi, V., Haines, H., Young, L.R., Mo, J., Filipovich, A.H., Bleesing, J.J., Mustillo, P., Stephens, M., Rueda, C.M., Chougnet, C.A., Hoebe, K., McElwee, J., Hughes, J.D., Karakoc-Aydiner, E., Matthews, H.F., Price, S., Su, H.C., Rao, V.K., Lenardo, M.J., and Jordan, M.B. 2015. AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science (New York, N.Y.) 349(6246): 436–440 [online]. Available from https://pubmed.ncbi.nlm.nih.gov/26206937/ [accessed 30 April 2022]. doi:

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