Reed, A. E., Peraza, J., van den Haak, F., Hernandez, E. R., Gibbs, R. A., Chinn, I. K., Lupski, J. R., Marchi, E., Reshef, R., Alobeid, B., Mace, E. M., & Orange, J. S. (2024). β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination. The Journal of Immunology, 212(6), 962–973. https://doi.org/10.4049/jimmunol.2300671

Baysac, K., Sun, G., Nakano, H., Schmitz, E. G., Cruz, A. C., Fisher, C., Bailey, A. C., Mace, E., Milner, J. D., Ombrello, M. J., Abbott, J. K., Aldave Becerra, J. C., Allenspach, E. J., Assing, K., Atkinson, T. P., Bargir, U. A., Baxter, S. K., Bergerson, J. R. E., Bista, R., … Wysocki, C. A. (2024). PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants. Journal of Allergy and Clinical Immunology, 153(1), 230–242. https://doi.org/10.1016/j.jaci.2023.08.036

Alinger, J. B., Mace, E. M., Porter, Justin. R., Mah-Som, A. Y., Daugherty, A. L., Li, S., Throm, A. A., Pingel, J. T., Saucier, N., Yao, A., Chinn, I. K., Lupski, J. R., Ehlayel, M., Keller, M., Bowman, G. R., Cooper, M. A., Orange, J. S., & French, A. R. (2024). Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency. Journal of Allergy and Clinical Immunology, 153(1), 216–229. https://doi.org/10.1016/j.jaci.2023.09.002

Leiding, J. W., Vogel, T. P., Santarlas, V. G. J., Mhaskar, R., Smith, M. R., Carisey, A., Vargas-Hernández, A., Silva-Carmona, M., Heeg, M., Rensing-Ehl, A., Neven, B., Hadjadj, J., Hambleton, S., Ronan Leahy, T., Meesilpavikai, K., Cunningham-Rundles, C., Dutmer, C. M., Sharapova, S. O., Taskinen, M., … Forbes Satter, L. R. (2023). Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. Journal of Allergy and Clinical Immunology, 151(4), 1081–1095. https://doi.org/10.1016/j.jaci.2022.09.002

Syed, M. N., Kutac, C., Miller, J. M., Marsh, R., Sullivan, K. E., Cunningham-Rundles, C., Fuleihan, R. L., Kheradmand, F., & Hajjar, J. (2022). Risk Factors of Pneumonia in Primary Antibody Deficiency Patients Receiving Immunoglobulin Therapy: Data from the US Immunodeficiency Network (USIDNET). Journal of Clinical Immunology, 42(7), 1545–1552. https://doi.org/10.1007/s10875-022-01317-2

Padem, N., Wright, H., Fuleihan, R., Garabedian, E., Suez, D., Cunningham-Rundles, C., Marsh, R. A., & Khojah, A. (2022). Rheumatologic diseases in patients with inborn errors of immunity in the USIDNET registry. Clinical Rheumatology, 41(7), 2197–2203. https://doi.org/10.1007/s10067-021-06044-4