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10.1016/j.jaci.2012.11.054 http://scihub22266oqcxt.onion/10.1016/j.jaci.2012.11.054 C3672257!3672257!23534974     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\23534974.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       J+Allergy+Clin+Immunol 2013 ; 131 (6): 1611-1623.e3 Nephropedia Template TP {{tp|p=23534974|t=2013. Dominant gain-of-function STAT1 mutations in FOXP3WT IPEX-like Syndrome |pdf=|usr=}}{{23534974}} gab.com Text Dominant gain-of-function STAT1 mutations in FOXP3WT IPEX-like Syndrome JO: J Allergy Clin Immunol http://www.kidney.de/pget.php?&tw=1&pmid=23534974 #FOAvip Background: Mutations in STAT1 cause a broad spectrum of disease, ranging from severe viral and bacterial infections (amorphic alleles), to mild disseminated mycobacterial disease (hypomorphic alleles), to chronic mucocutaneous candidiasis (hypermorphic alleles). The hypermorphic mutations are also associated with arterial aneurysms, autoimmunity and squamous cell cancers. Objective: To investigate the role of STAT1 gain of function mutations in phenotypes other than CMC. Methods: We initially screened patients with chronic mucocutaneous candidiasis and autoimmunity for STAT1 mutations. We functionally characterized mutations in vitro and studied immune profiles and regulatory T cells. After our initial case identifications we explored two large cohorts of FOXP3WT IPEX-like patients for STAT1 mutations. Results: We identified 5 children with polyendocrinopathy, enteropathy, and dermatitis, reminiscent of IPEX syndrome, all but one had a variety of mucosal and disseminated fungal infections. All patients lacked FOXP3 mutations but had uniallelic STAT1 mutations [c.629 G>T, p.R210I; c.1073 T>G, p.L358W, c.796G>A; p.V266I; c.1154C>T, T385M (2 patients)]. STAT1 phosphorylation in response to IFN-?, IL-6 and IL-21 was increased and prolonged. CD4+ IL-17 producing T cells were diminished. All patients had a normal percentage of regulatory T cells in the CD4+ T cell compartment and their function was intact in the two patients tested. Patients with cells available for study had normal levels of IL-2-induced STAT5 phosphorylation.. Conclusions: Gain-of-function mutations in STAT1 can cause an IPEX-like syndrome with normal frequency and function of regulatory T cells. Twit Text FOAVip Dominant gain-of-function STAT1 mutations in FOXP3WT IPEX-like Syndrome ????J Allergy Clin Immunol http://www.kidney.de/pget.php?&tw=1&pmid=23534974 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=23534974 #FOAvip English Wikipedia <ref>{{Cite pmid|23534974}}</ref> Dominant gain-of-function STAT1 mutations in FOXP3WT IPEX-like Syndrome #MMPMID23534974 Uzel G; Sampaio EP; Lawrence MG; Hsu AP; Hackett M; Dorsey MJ; Noel RJ; Verbsky JW; Freeman AF; Janssen E; Bonilla FA; Pechacek J; Chandrasekaran P; Browne SK; Agharahimi A; Gharib AM; Mannurita SC; Yim JJ; Gambineri E; Torgerson T; Tran DQ; Milner JD; Holland SM J Allergy Clin Immunol 2013[Jun]; 131 (6): 1611-1623.e3 PMID23534974show ga Background: Mutations in STAT1 cause a broad spectrum of disease, ranging from severe viral and bacterial infections (amorphic alleles), to mild disseminated mycobacterial disease (hypomorphic alleles), to chronic mucocutaneous candidiasis (hypermorphic alleles). The hypermorphic mutations are also associated with arterial aneurysms, autoimmunity and squamous cell cancers. Objective: To investigate the role of STAT1 gain of function mutations in phenotypes other than CMC. Methods: We initially screened patients with chronic mucocutaneous candidiasis and autoimmunity for STAT1 mutations. We functionally characterized mutations in vitro and studied immune profiles and regulatory T cells. After our initial case identifications we explored two large cohorts of FOXP3WT IPEX-like patients for STAT1 mutations. Results: We identified 5 children with polyendocrinopathy, enteropathy, and dermatitis, reminiscent of IPEX syndrome, all but one had a variety of mucosal and disseminated fungal infections. All patients lacked FOXP3 mutations but had uniallelic STAT1 mutations [c.629 G>T, p.R210I; c.1073 T>G, p.L358W, c.796G>A; p.V266I; c.1154C>T, T385M (2 patients)]. STAT1 phosphorylation in response to IFN-?, IL-6 and IL-21 was increased and prolonged. CD4+ IL-17 producing T cells were diminished. All patients had a normal percentage of regulatory T cells in the CD4+ T cell compartment and their function was intact in the two patients tested. Patients with cells available for study had normal levels of IL-2-induced STAT5 phosphorylation.. Conclusions: Gain-of-function mutations in STAT1 can cause an IPEX-like syndrome with normal frequency and function of regulatory T cells. äDominant gain-of-function STAT1 mutations in FOXP3WT IPEX-like Syndrom(epmc).pdf DeepDyve Pubget Overpricing