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Publications

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.

Wang L. et al, (2021), Nat Genet

Deciphering the Transcriptomic Heterogeneity of Duodenal Coeliac Disease Biopsies

Wolf J. et al, (2021), INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 22

Functional and structural analysis of cytokine selective IL6ST defects that cause recessive hyper-IgE syndrome

Chen Y-H. et al, (2021), Journal of Allergy and Clinical Immunology

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.

Aldrian D. et al, (2021), J Clin Med, 10

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

Klionsky DJ. et al, (2021), Autophagy, 17, 1 - 382

Clinical Genomics for the Diagnosis of Monogenic forms of Inflammatory Bowel Disease: A Position Paper from The Paediatric IBD Porto Group of ESPGHAN.

Uhlig HH. et al, (2020), Journal of pediatric gastroenterology and nutrition, Publish Ahead of Print

A variant in IL6ST with a selective IL-11 signaling defect in human and mouse

Schwerd T. et al, (2020), Bone Research, 8

Discovery of CD80 and CD86 as recent activation markers on regulatory T cells by protein-RNA single-cell analysis

Trzupek D. et al, (2020), Genome Medicine, 12

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

Demyelination After Anti-TNF Therapy: Who is at Risk?

Williams I. and Uhlig HH., (2020), Journal of Crohn's & colitis

Predictive Prenatal Diagnosis for Infantile-Onset Inflammatory Bowel Disease due to Interleukin-10 Signalling Defects.

Ye Z. et al, (2020), Journal of pediatric gastroenterology and nutrition

A variant in IL6ST with a selective IL-11 signaling defect in human and mouse.

Schwerd T. et al, (2020), Bone Res, 8

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

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

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

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

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