Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Ogishi, Masato; Yang, Rui; Aytekin, Caner; Langlais, David; Bourgey, Mathieu; Khan, Taushif; Ali, Fatima; Rahman, Mahbuba; Delmonte, Ottavia; Chrabieh, Maya; Zhang, Peng; Gruber, Conor; Pelham, Simon; Spaan, András; Rosain, Jérémie; Lei, Wei-Te; Drutman, Scott; Hellmann, Matthew; Callahan, Margaret; Adamow, Matthew; Wong, Phillip; Wolchok, Jedd; Rao, Geetha; Ma, Cindy; Nakajima, Yuka; Yaguchi, Tomonori; Chamoto, Kenji; Williams, Samuel; Emile, Jean-Francois; Rozenberg, Flore; Glickman, Michael; Rapaport, Franck; Kerner, Gaspard; Allington, Garrett; Tezcan, FEYZİ; Cagdas, DENİZ; Hosnut, Ferda; Dogu, Figen; Ikinciogullari, Aydan; Rao, V; Kainulainen, Leena; Béziat, Vivien; Bustamante, Jacinta; Vilarinho, Silvia; Lifton, Richard; Boisson, Bertrand; Abel, Laurent; Bogunovic, Dusan; Marr, Nico; Notarangelo, Luigi; Tangye, Stuart; Honjo, Tasuku; Gros, Philippe; Boisson-Dupuis, Stéphanie; Casanova, Jean-Laurent

doi:10.1038/s41591-021-01388-5

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Ogishi M., Yang R., Aytekin C., Langlais D., Bourgey M., Khan T., ...More

NATURE MEDICINE, vol.27, no.9, pp.1646-1680, 2021 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 27 Issue: 9
Publication Date: 2021
Doi Number: 10.1038/s41591-021-01388-5
Journal Name: NATURE MEDICINE
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, Chemical Abstracts Core, EMBASE, MEDLINE, Public Affairs Index, Veterinary Science Database, DIALNET
Page Numbers: pp.1646-1680
Hacettepe University Affiliated: Yes

Abstract

Dysregulated immune features in a patient with a homozygous loss-of-function mutation in PDCD1 suggest that IL-6, IL-23, STAT3 and ROR gamma T might be potential targets for treatment of PD-1 blockade-induced autoimmunity.