Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome
Uzel, Gulbu, MD ; Sampaio, Elizabeth P., MD, PhD ; Lawrence, Monica G., MD ; Hsu, Amy P., BA ; Hackett, Mary, BSN ; Dorsey, Morna J., MD ; Noel, Richard J., MD ; Verbsky, James W., MD, PhD ; Freeman, Alexandra F., MD ; Janssen, Erin, MD ; Bonilla, Francisco A., MD, PhD ; Pechacek, Joseph, MS ; Chandrasekaran, Prabha, PhD ; Browne, Sarah K., MD ; Agharahimi, Anahita, MSN, CRNP ; Gharib, Ahmed M., MD ; Mannurita, Sara C., MD ; Yim, Jae Joon, MD, MPH ; Gambineri, Eleonora, MD ; Torgerson, Troy, MD, PhD ; Tran, Dat Q., MD ; Milner, Joshua D., MD ; Holland, Steven M., MD
Journal of allergy and clinical immunology, 2013-06, Vol.131 (6), p.1611-1623.e3 [Periódico revisado por pares]New York, NY: Mosby, Inc
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