Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome

Uzel, Gulbu; Sampaio, Elizabeth P.; Lawrence, Monica G.; Hsu, Amy P.; Hackett, Mary; Dorsey, Morna J.; Noel, Richard J.; Verbsky, James W.; Freeman, Alexandra F.; Janssen, Erin; Bonilla, Francisco A.; Pechacek, Joseph; Chandrasekaran, Prabha; Browne, Sarah K.; Agharahimi, Anahita; Gharib, Ahmed M.; Mannurita, Sara C.; Jae Joon Yim,; Gambineri, Eleonora; Torgerson, Troy; Tran, Dat Q.; Milner, Joshua D.; Holland, Steven M.

doi:10.1016/j.jaci.2012.11.054

Mutazioni di STAT1 in pazienti IPEX-like STAT1 mutations in IPEX-like patients

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome / Gulbu Uzel, Elizabeth P. Sampaio, Monica G. Lawrence, Amy P. Hsu, Mary Hackett, Morna J. Dorsey, Richard J. Noel, James W. Verbsky, Alexandra F. Freeman, Erin Janssen, Francisco A. Bonilla, Joseph Pechacek, Prabha Chandrasekaran, Sarah K. Browne, Anahita Agharahimi, Ahmed M. Gharib, Sara C. Mannurita, Jae Joon Yim, Eleonora Gambineri, Troy Torgerson, et al.. - In: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. - ISSN 0091-6749. - STAMPA. - 131:(2013), pp. 1611-1623.e3. [10.1016/j.jaci.2012.11.054]