Journal of Experimental Medicine
Iris Fagniez, Miyuki Tsumura, Antoine Guérin, Hassan Abolhassani, Samin Sharafian, Mehrnaz Mesdaghi, Toyoki Nishimura, Harsha Prasada Lashkari, Sadashiva Rao, Stephanie Richards, Ji Eun Han, Ottavia M. Delmonte, Camille Kergaravat, Janet G. Markle, Masato Ogishi, Jing Han, Jessica Peel, Joseph Vellutini, Yi Feng, Camille Soudée, Mélanie Migaud, Boaz Palterer, Katherine J.L. Jackson, Shiho Nishimura, Sonoko Sakata, Keishiro Kinoshita, Ayako Yamamoto, Hiroshi Moritake, Mohammed Alzahrani, Francisco Vallejos, Theresa Cole, Joanne M. Smart, Sharon Choo, Zahra Chavoshzadeh, Shahnaz Armin, Antoine Toubert, Peng Zhang, Jérémie Rosain, Luigi D. Notarangelo, Qiang Pan-Hammarström
We previously reported inherited retinoic acid–related orphan receptor γ T (RORγT) deficiency in seven patients from three ancestries (Chilean, Palestinian, and Saudi Arabian) with mycobacterial disease and chronic mucocutaneous candidiasis (CMC). We report here five additional patients from different ancestries (Afghan, Indian, Iranian, Japanese, and Sri Lankan), each homozygous for a new loss-of-function RORC variant. All but one patient—the exception receiving early prophylaxis—developed mycobacterial disease du …