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

ABSTRACT: The pathophysiology of adverse events following programmed cell death protein 1 (PD-1) blockade, including tuberculosis (TB) and autoimmunity, remains poorly characterized. We studied a patient with inherited PD-1 deficiency and TB who died of pulmonary autoimmunity. The patient's leukocytes did not express PD-1 or respond to PD-1-mediated suppression. The patient's lymphocytes produced only small amounts of interferon (IFN)-γ upon mycobacterial stimuli, similarly to patients with inborn errors of IFN-γ production who are vulnerable to TB. This phenotype resulted from a combined depletion of Vδ2⁺ γδ T, mucosal-associated invariant T and CD56^bright natural killer lymphocytes and dysfunction of other T lymphocyte subsets. Moreover, the patient displayed hepatosplenomega

SUBMITTER: Ogishi M 

PROVIDER: S-EPMC8446316 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature