Gain-of-function IKBKB mutation causes human combined immune deficiency

Cardinez, C., Miraghazadeh, B., Tanita, K., da Silva, E., Hoshino, A., Okada, S., Chand, R., Asano, T., Tsumura, M., Yoshida, K., Ohnishi, H., Kato, Z., Yamazaki, M., Okuno, Y., Miyano, S., Kojima, S., Ogawa, S., Andrews, T. D., Field, M. A., Burgio, G., Morio, T., Vinuesa, C. G., Kanegane, H., Cook, M. C.
Rockefeller University Press
Published 2018