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Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.
Chen YH, Zastrow DB, Metcalfe RD, Gartner L, Krause F, Morton CJ, Marwaha S, Fresard L, Huang Y, Zhao C, McCormack C, Bick D, Worthey EA, Eng CM, Gold J, Undiagnosed Diseases Network, Montgomery SB, Fisher PG, Ashley EA, Wheeler MT, Parker MW, Shanmugasundaram V, Putoczki TL, Schmidt-Arras D, Laurence A, Bernstein JA, Griffin MDW, Uhlig HH. Chen YH, et al. Among authors: uhlig hh. J Allergy Clin Immunol. 2021 Aug;148(2):585-598. doi: 10.1016/j.jaci.2021.02.044. Epub 2021 Mar 23. J Allergy Clin Immunol. 2021. PMID: 33771552 Clinical Trial.
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
Chen HH, Händel N, Ngeow J, Muller J, Hühn M, Yang HT, Heindl M, Berbers RM, Hegazy AN, Kionke J, Yehia L, Sack U, Bläser F, Rensing-Ehl A, Reifenberger J, Keith J, Travis S, Merkenschlager A, Kiess W, Wittekind C, Walker L, Ehl S, Aretz S, Dustin ML, Eng C, Powrie F, Uhlig HH. Chen HH, et al. Among authors: uhlig hh. J Allergy Clin Immunol. 2017 Feb;139(2):607-620.e15. doi: 10.1016/j.jaci.2016.03.059. Epub 2016 Jun 18. J Allergy Clin Immunol. 2017. PMID: 27477328 Free PMC article.
When half a glass of STAT3 is just not enough.
Laurence AD, Uhlig HH. Laurence AD, et al. Among authors: uhlig hh. Blood. 2016 Dec 29;128(26):3020-3021. doi: 10.1182/blood-2016-11-750539. Blood. 2016. PMID: 28034865 Free article. No abstract available.
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
Schwerd T, Twigg SRF, Aschenbrenner D, Manrique S, Miller KA, Taylor IB, Capitani M, McGowan SJ, Sweeney E, Weber A, Chen L, Bowness P, Riordan A, Cant A, Freeman AF, Milner JD, Holland SM, Frede N, Müller M, Schmidt-Arras D, Grimbacher B, Wall SA, Jones EY, Wilkie AOM, Uhlig HH. Schwerd T, et al. Among authors: uhlig hh. J Exp Med. 2017 Sep 4;214(9):2547-2562. doi: 10.1084/jem.20161810. Epub 2017 Jul 26. J Exp Med. 2017. PMID: 28747427 Free PMC article.
Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.
Shahin T, Aschenbrenner D, Cagdas D, Bal SK, Conde CD, Garncarz W, Medgyesi D, Schwerd T, Karaatmaca B, Cetinkaya PG, Esenboga S, Twigg SRF, Cant A, Wilkie AOM, Tezcan I, Uhlig HH, Boztug K. Shahin T, et al. Among authors: uhlig hh. Haematologica. 2019 Mar;104(3):609-621. doi: 10.3324/haematol.2018.194233. Epub 2018 Oct 11. Haematologica. 2019. PMID: 30309848 Free PMC article.
The Role of PTEN in Innate and Adaptive Immunity.
Taylor H, Laurence ADJ, Uhlig HH. Taylor H, et al. Among authors: uhlig hh. Cold Spring Harb Perspect Med. 2019 Dec 2;9(12):a036996. doi: 10.1101/cshperspect.a036996. Cold Spring Harb Perspect Med. 2019. PMID: 31501268 Free PMC article. Review.
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.
Chen YH, Grigelioniene G, Newton PT, Gullander J, Elfving M, Hammarsjö A, Batkovskyte D, Alsaif HS, Kurdi WIY, Abdulwahab F, Shanmugasundaram V, Devey L, Bacrot S, Brodszki J, Huber C, Hamel B, Gisselsson D, Papadogiannakis N, Jedrycha K, Gürtl-Lackner B, Chagin AS, Nishimura G, Aschenbrenner D, Alkuraya FS, Laurence A, Cormier-Daire V, Uhlig HH. Chen YH, et al. Among authors: uhlig hh. J Exp Med. 2020 Mar 2;217(3):e20191306. doi: 10.1084/jem.20191306. J Exp Med. 2020. PMID: 31914175 Free PMC article.
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network; Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A. Béziat V, et al. Among authors: uhlig hh. J Exp Med. 2020 Jun 1;217(6):e20191804. doi: 10.1084/jem.20191804. J Exp Med. 2020. PMID: 32207811 Free PMC article.
A variant in IL6ST with a selective IL-11 signaling defect in human and mouse.
Schwerd T, Krause F, Twigg SRF, Aschenbrenner D, Chen YH, Borgmeyer U, Müller M, Manrique S, Schumacher N, Wall SA, Jung J, Damm T, Glüer CC, Scheller J, Rose-John S, Jones EY, Laurence A, Wilkie AOM, Schmidt-Arras D, Uhlig HH. Schwerd T, et al. Among authors: uhlig hh. Bone Res. 2020 Jun 11;8:24. doi: 10.1038/s41413-020-0098-z. eCollection 2020. Bone Res. 2020. PMID: 32566365 Free PMC article.
Inborn errors of IL-6 family cytokine responses.
Chen YH, Spencer S, Laurence A, Thaventhiran JE, Uhlig HH. Chen YH, et al. Among authors: uhlig hh. Curr Opin Immunol. 2021 Oct;72:135-145. doi: 10.1016/j.coi.2021.04.007. Epub 2021 May 24. Curr Opin Immunol. 2021. PMID: 34044328 Free PMC article. Review.
182 results