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;Dat Q. Tran;Joshua D. Milner;Steven M. Holland. - In: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. - ISSN 0091-6749. - STAMPA. - 131:(2013), pp. 1611-1623.e3. [10.1016/j.jaci.2012.11.054]