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Items: 1 to 20 of 199


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.

J Exp Med. 2020 Mar 2;217(3). pii: e20191306. doi: 10.1084/jem.20191306.


Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies.

Ouahed J, Spencer E, Kotlarz D, Shouval DS, Kowalik M, Peng K, Field M, Grushkin-Lerner L, Pai SY, Bousvaros A, Cho J, Argmann C, Schadt E, Mcgovern DPB, Mokry M, Nieuwenhuis E, Clevers H, Powrie F, Uhlig H, Klein C, Muise A, Dubinsky M, Snapper SB.

Inflamm Bowel Dis. 2019 Dec 3. pii: izz259. doi: 10.1093/ibd/izz259. [Epub ahead of print]


Loss of IL-10 signaling in macrophages limits bacterial killing driven by prostaglandin E2.

Mukhopadhyay S, Heinz E, Porreca I, Alasoo K, Yeung A, Yang HT, Schwerd T, Forbester JL, Hale C, Agu CA, Choi YH, Rodrigues J, Capitani M, Jostins-Dean L, Thomas DC, Travis S, Gaffney D, Skarnes WC, Thomson N, Uhlig HH, Dougan G, Powrie F.

J Exp Med. 2020 Feb 3;217(2). pii: e20180649. doi: 10.1084/jem.20180649.


Janus kinase inhibition for autoinflammation in patients with DNASE2 deficiency.

Hong Y, Capitani M, Murphy C, Pandey S, Cavounidis A, Takeshita H, Nanthapisal S, Yasuda T, Bader-Meunier B, McCreary D, Omoyinmi E, Rao A, Booth C, Gilmour K, Sebire N, Shah N, Klein N, Bullock AN, Eleftheriou D, Uhlig HH, Brogan P.

J Allergy Clin Immunol. 2019 Nov 24. pii: S0091-6749(19)31602-1. doi: 10.1016/j.jaci.2019.11.020. [Epub ahead of print] No abstract available.


The Role of PTEN in Innate and Adaptive Immunity.

Taylor H, Laurence ADJ, Uhlig HH.

Cold Spring Harb Perspect Med. 2019 Dec 2;9(12). pii: a036996. doi: 10.1101/cshperspect.a036996. Review.


Functionalization of porous siliceous materials, Part 2: Surface characterization by inverse gas chromatography.

Bauer F, Meyer R, Czihal S, Bertmer M, Decker U, Naumov S, Uhlig H, Steinhart M, Enke D.

J Chromatogr A. 2019 Oct 11;1603:297-310. doi: 10.1016/j.chroma.2019.06.031. Epub 2019 Jun 13.


Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation.

Bolton C, Burch N, Morgan J, Harrison B, Pandey S, Pagnamenta AT; Oxford IBD cohort investigators , Taylor JC, Taylor JM, Marsh JCW, Potter V, Travis S, Uhlig HH.

J Crohns Colitis. 2020 Jan 1;14(1):142-147. doi: 10.1093/ecco-jcc/jjz112.


Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ.

Swan DJ, Aschenbrenner D, Lamb CA, Chakraborty K, Clark J, Pandey S, Engelhardt KR, Chen R, Cavounidis A, Ding Y, Krasnogor N, Carey CD, Acres M, Needham S, Cant AJ, Arkwright PD, Chandra A, Okkenhaug K, Uhlig HH, Hambleton S.

Haematologica. 2019 Oct;104(10):e483-e486. doi: 10.3324/haematol.2018.208397. Epub 2019 May 9. No abstract available.


The Short Chain Fatty Acid Butyrate Imprints an Antimicrobial Program in Macrophages.

Schulthess J, Pandey S, Capitani M, Rue-Albrecht KC, Arnold I, Franchini F, Chomka A, Ilott NE, Johnston DGW, Pires E, McCullagh J, Sansom SN, Arancibia-Cárcamo CV, Uhlig HH, Powrie F.

Immunity. 2019 Feb 19;50(2):432-445.e7. doi: 10.1016/j.immuni.2018.12.018. Epub 2019 Jan 23.


Defining Faecal Calprotectin Thresholds as a Surrogate for Endoscopic and Histological Disease Activity in Ulcerative Colitis-a Prospective Analysis.

Walsh A, Kormilitzin A, Hinds C, Sexton V, Brain O, Keshav S, Uhlig H, Geddes J, Goodwin G, Peters M, Collins G, Travis S.

J Crohns Colitis. 2019 Mar 30;13(4):424-430. doi: 10.1093/ecco-jcc/jjy184.


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.

Haematologica. 2019 Mar;104(3):609-621. doi: 10.3324/haematol.2018.194233. Epub 2018 Oct 11.


Interleukin-22 promotes phagolysosomal fusion to induce protection against Salmonella enterica Typhimurium in human epithelial cells.

Forbester JL, Lees EA, Goulding D, Forrest S, Yeung A, Speak A, Clare S, Coomber EL, Mukhopadhyay S, Kraiczy J, Schreiber F, Lawley TD, Hancock REW, Uhlig HH, Zilbauer M, Powrie F, Dougan G.

Proc Natl Acad Sci U S A. 2018 Oct 2;115(40):10118-10123. doi: 10.1073/pnas.1811866115. Epub 2018 Sep 14.


Multiomics Analyses to Deliver the Most Effective Treatment to Every Patient With Inflammatory Bowel Disease.

Weersma RK, Xavier RJ; IBD Multi Omics Consortium, Vermeire S, Barrett JC.

Gastroenterology. 2018 Nov;155(5):e1-e4. doi: 10.1053/j.gastro.2018.07.039. Epub 2018 Aug 2. No abstract available.


Consequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease.

Quaranta M, Wilson R, Gonçalves Serra E, Pandey S, Schwerd T, Gilmour K, Klenerman P, Powrie F, Keshav S, Travis SPL, Anderson CA, Uhlig HH.

Gastroenterology. 2018 Jul;155(1):231-234. doi: 10.1053/j.gastro.2018.03.069. Epub 2018 Jun 9. No abstract available.


A Spectrum of Genetic Variants Contributes to Immune Defects and Pathogenesis of Inflammatory Bowel Diseases.

Uhlig HH, Booth C.

Gastroenterology. 2018 Jun;154(8):2022-2024. doi: 10.1053/j.gastro.2018.05.001. Epub 2018 May 5. No abstract available.


CD161 Defines a Functionally Distinct Subset of Pro-Inflammatory Natural Killer Cells.

Kurioka A, Cosgrove C, Simoni Y, van Wilgenburg B, Geremia A, Björkander S, Sverremark-Ekström E, Thurnheer C, Günthard HF, Khanna N; Swiss HIV Cohort Study; Oxford IBD Cohort Investigators, Walker LJ, Arancibia-Cárcamo CV, Newell EW, Willberg CB, Klenerman P.

Front Immunol. 2018 Apr 9;9:486. doi: 10.3389/fimmu.2018.00486. eCollection 2018.


Translating Immunology into Therapeutic Concepts for Inflammatory Bowel Disease.

Uhlig HH, Powrie F.

Annu Rev Immunol. 2018 Apr 26;36:755-781. doi: 10.1146/annurev-immunol-042617-053055. Review.


Antibody Concentrations Decrease 14-Fold in Children With Celiac Disease on a Gluten-Free Diet but Remain High at 3 Months.

Petroff D, Wolf J, Richter T, Auth MKH, Uhlig HH, Laass MW, Lauenstein P, Krahl A, Händel N, de Laffolie J, Hauer AC, Heiduk M, Flemming G, Schmidt A, Hasenclever D, Mothes T.

Clin Gastroenterol Hepatol. 2018 Sep;16(9):1442-1449.e5. doi: 10.1016/j.cgh.2018.04.008. Epub 2018 Apr 12.


Corrigendum: Vedolizumab in Paediatric Inflammatory Bowel Disease: A Retrospective Multi-Centre Experience From the Paediatric IBD Porto Group of ESPGHAN.

Ledder O, Assa A, Levine A, Escher JC, de Ridder L, Ruemmele F, Shah N, Shaoul R, Wolters VM, Rodrigues A, Uhlig HH, Posovszky C, Kolho KL, Jakobsen C, Cohen S, Shouval DS, de Meij T, Martin-de-Carpi J, Richmond L, Bronsky J, Friedman M, Turner D.

J Crohns Colitis. 2018 Apr 27;12(5):630. doi: 10.1093/ecco-jcc/jjx172. No abstract available.


Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy.

Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C.

Nat Genet. 2018 Mar;50(3):344-348. doi: 10.1038/s41588-018-0063-6. Epub 2018 Feb 26.

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