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Publications

Deconvolution of monocyte responses in inflammatory bowel disease reveals an IL-1 cytokine network that regulates IL-23 in genetic and acquired IL-10 resistance.

Aschenbrenner D. et al, (2020), Gut

Corona Virus Disease 2019 and Paediatric Inflammatory Bowel Diseases: Global Experience and Provisional Guidance (March 2020) from the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology, and Nutrition.

Turner D. et al, (2020), Journal of pediatric gastroenterology and nutrition, 70, 727 - 733

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Béziat V. et al, (2020), Journal of Experimental Medicine, 217

COVID-19 and Paediatric Inflammatory Bowel Diseases: Global Experience and Provisional Guidance (March 2020) from the Paediatric IBD Porto group of ESPGHAN.

Turner D. et al, (2020), Journal of pediatric gastroenterology and nutrition

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

Chen Y-H. et al, (2020), J Exp Med, 217

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.

Serra EG. et al, (2020), Nature communications, 11

Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.

Crowley E. et al, (2020), Gastroenterology

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

Mukhopadhyay S. et al, (2020), The Journal of experimental medicine, 217

Alterations in T and B Cell Receptor Repertoires Patterns in Patients With IL10 Signaling Defects and History of Infantile-Onset IBD.

Werner L. et al, (2020), Frontiers in immunology, 11

Immune predictors of oral poliovirus vaccine immunogenicity among infants in South India.

Babji S. et al, (2020), NPJ vaccines, 5

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

Bolton C. et al, (2020), Journal of Crohn's and Colitis, 14, 142 - 147

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

Ouahed J. et al, (2019), Inflammatory bowel diseases

Janus kinase inhibition for autoinflammation in DNASE2 deficiency

Hong Y. et al, (2019), Journal of Allergy and Clinical Immunology

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

Swan DJ. et al, (2019), Haematologica, 104, e483 - e486

The Role of PTEN in Innate and Adaptive Immunity.

Taylor H. et al, (2019), Cold Spring Harb Perspect Med

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

Walsh A. et al, (2019), J Crohns Colitis, 13, 424 - 430

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

Schulthess J. et al, (2019), Immunity

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

Forbester JL. et al, (2018), Proc Natl Acad Sci U S A, 115, 10118 - 10123

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

Quaranta M. et al, (2018), Gastroenterology, 155, 231 - 234

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

Uhlig HH. and Booth C., (2018), Gastroenterology, 154, 2022 - 2024

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