Inherited PD-1 Deficiency Underlies Tuberculosis and Autoimmunity in a Child

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Investigators studied a patient with inherited PD-1 deficiency and tuberculosis who died of pulmonary autoimmunity. The patient’s leukocytes did not express PD-1 or respond to PD-1-mediated suppression.
[Nature Medicine]
Ogishi, M., Yang, R., Aytekin, C., Langlais, D., Bourgey, M., Khan, T., Ali, F. A., Rahman, M., Delmonte, O. M., Chrabieh, M., Zhang, P., Gruber, C., Pelham, S. J., Spaan, A. N., Rosain, J., Lei, W.-T., Drutman, S., Hellmann, M. D., Callahan, M. K., … Casanova, J.-L. (2021). Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child. Nature Medicine, 1–9. https://doi.org/10.1038/s41591-021-01388-5 Cite
Abstract