Study of an extended family with CTLA-4 deficiency suggests a CD28/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity

Hou, TZ; Olbrich, P; Soto, JML; Sanchez, B; Moreno, PS; Borte, S; Stauss, HJ; Burns, SO; Walker, LSK; Pan-Hammarstrom, Q; Hammarstrom, L; Sansom, DM; Neth, O

Sansom, DM (reprint author), UCL, Royal Free Hosp, Sch Life & Med Sci, Inst Immun & Transplantat, Rowland Hill St, London NW3 2PF, England.

CLINICAL IMMUNOLOGY, 2018; 188 (): 94

Abstract

The CTLA-4 checkpoint regulates the activation of T cells. Individuals with heterozygous mutations in CTLA-4 have a complex phenotype typically charac......

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