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

Cardinez C, Miraghazadeh B, Tanita K, Chand R, da Silva E, Hoshino A, Okada S, Chand R, Asano T, Tsumura M, Yoshida M, Ohnishi H, Kato Z, Yamazaki M, Okuno Y, Miyano S, Kojima S, Ogawa S, Andrews TD, Field M, BurgioG, Vinuesa CG, and Cook MC. Gain-of-function IKBKB mutation causes human combined immune deficiency. J Exp Med.  10.1084/jem.20180639