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• W2897613262 abstract "Hyper-IgE syndromes comprise a group of inborn errors of immunity. STAT3-deficient hyper-IgE syndrome is characterized by elevated serum IgE levels, recurrent infections and eczema, and characteristic skeletal anomalies. A loss-of-function biallelic mutation in IL6ST encoding the GP130 receptor subunit (p.N404Y) has very recently been identified in a singleton patient (herein referred to as PN404Y) as a novel etiology of hyper-IgE syndrome. Here, we studied a patient with hyper-IgE syndrome caused by a novel homozygous mutation in IL6ST (p.P498L; patient herein referred to as PP498L) leading to abrogated GP130 signaling after stimulation with IL-6 and IL-27 in peripheral blood mononuclear cells as well as IL-6 and IL-11 in fibroblasts. Extending the initial identification of selective GP130 deficiency, we aimed to dissect the effects of aberrant cytokine signaling on T-helper cell differentiation in both patients. Our results reveal the importance of IL-6 signaling for the development of CCR6-expressing memory CD4+ T cells (including T-helper 17-enriched subsets) and non-conventional CD8+T cells which were reduced in both patients. Downstream functional analysis of the GP130 mutants (p.N404Y and p.P498L) have shown differences in response to IL-27, with the p.P498L mutation having a more severe effect that is reflected by reduced T-helper 1 cells in this patient (PP498L) only. Collectively, our data suggest that characteristic features of GP130-deficient hyper-IgE syndrome phenotype are IL-6 and IL-11 dominated, and indicate selective roles of aberrant IL-6 and IL-27 signaling on the differentiation of T-cell subsets." @default.
• W2897613262 created "2018-10-26" @default.
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• W2897613262 date "2018-10-11" @default.
• W2897613262 modified "2023-10-13" @default.
• W2897613262 title "Selective loss of function variants in <i>IL6ST</i> cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function" @default.
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• W2897613262 cites W1919902298 @default.
• W2897613262 cites W1931329582 @default.
• W2897613262 cites W1981892481 @default.
• W2897613262 cites W1983670187 @default.
• W2897613262 cites W1994233311 @default.
• W2897613262 cites W1998157143 @default.
• W2897613262 cites W1999218213 @default.
• W2897613262 cites W2003505321 @default.
• W2897613262 cites W2008713912 @default.
• W2897613262 cites W2013003453 @default.
• W2897613262 cites W2014750930 @default.
• W2897613262 cites W2020482563 @default.
• W2897613262 cites W2030345324 @default.
• W2897613262 cites W2034052014 @default.
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• W2897613262 cites W2061014664 @default.
• W2897613262 cites W2067761476 @default.
• W2897613262 cites W2068053001 @default.
• W2897613262 cites W2070159820 @default.
• W2897613262 cites W2097147259 @default.
• W2897613262 cites W2102617539 @default.
• W2897613262 cites W2104497596 @default.
• W2897613262 cites W2115779634 @default.
• W2897613262 cites W2120081319 @default.
• W2897613262 cites W2121702910 @default.
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• W2897613262 cites W2153633650 @default.
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• W2897613262 cites W2160995259 @default.
• W2897613262 cites W2162721157 @default.
• W2897613262 cites W2165647354 @default.
• W2897613262 cites W2169167040 @default.
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• W2897613262 cites W2187089797 @default.
• W2897613262 cites W2329293925 @default.
• W2897613262 cites W2466040912 @default.
• W2897613262 cites W2512898954 @default.
• W2897613262 cites W2544883123 @default.
• W2897613262 cites W2560787367 @default.
• W2897613262 cites W2580814161 @default.
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• W2897613262 cites W2734433720 @default.
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• W2897613262 cites W2755141428 @default.
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• W2897613262 doi "https://doi.org/10.3324/haematol.2018.194233" @default.
• W2897613262 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6395342" @default.
• W2897613262 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30309848" @default.
• W2897613262 hasPublicationYear "2018" @default.
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