[HTML][HTML] A systematic review of monogenic inflammatory bowel disease

R Nambu, N Warner, DJ Mulder, D Kotlarz… - Clinical …, 2022 - Elsevier
Background and aims Advances in genomic technologies have led to increasing reports of
monogenic inflammatory bowel disease (IBD). However, there has not been a detailed …

Exome and genome sequencing for inborn errors of immunity

I Meyts, B Bosch, A Bolze, B Boisson, Y Itan… - Journal of Allergy and …, 2016 - Elsevier
The advent of next-generation sequencing (NGS) in 2010 has transformed medicine,
particularly the growing field of inborn errors of immunity. NGS has facilitated the discovery …

The type I interferonopathies

MA Lee-Kirsch - Annual review of medicine, 2017 - annualreviews.org
Type I interferons (IFNs) play a central role in the immune defense against viral infections.
Type I IFN activation is induced by pattern-recognition receptors of the innate immune …

Type I interferon–mediated monogenic autoinflammation: the type I interferonopathies, a conceptual overview

MP Rodero, YJ Crow - Journal of Experimental Medicine, 2016 - rupress.org
Type I interferon is a potent substance. As such, the induction, transmission, and resolution
of the type I interferon–mediated immune response are tightly regulated. As defined, the type …

An integrated taxonomy for monogenic inflammatory bowel disease

C Bolton, CS Smillie, S Pandey, R Elmentaite, G Wei… - Gastroenterology, 2022 - Elsevier
Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

Assessment of type I interferon signaling in pediatric inflammatory disease

GI Rice, I Melki, ML Frémond, TA Briggs… - Journal of clinical …, 2017 - Springer
Purpose Increased type I interferon is considered relevant to the pathology of a number of
monogenic and complex disorders spanning pediatric rheumatology, neurology, and …

Type I interferonopathies in children: an overview

DM d'Angelo, P Di Filippo, L Breda, F Chiarelli - Frontiers in pediatrics, 2021 - frontiersin.org
Notable advances in gene sequencing methods in recent years have permitted enormous
progress in the phenotypic and genotypic characterization of autoinflammatory syndromes …

[HTML][HTML] Clinical genomics in inflammatory bowel disease

HH Uhlig, AM Muise - Trends in Genetics, 2017 - cell.com
Genomic technologies inform the complex genetic basis of polygenic inflammatory bowel
disease (IBD) as well as Mendelian disease-associated IBD. Aiming to diagnose patients …

Iron–sulfur clusters as inhibitors and catalysts of viral replication

K Honarmand Ebrahimi, S Ciofi-Baffoni… - Nature Chemistry, 2022 - nature.com
A virus hijacks host cellular machineries and metabolites in order to reproduce. In response,
the innate immune system activates different processes to fight back. Although many aspects …

Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies

B Lin, R Goldbach-Mansky - Journal of Allergy and Clinical Immunology, 2022 - Elsevier
A number of systemic autoinflammatory diseases arise from gain-of-function mutations in
genes encoding IL-1–activating inflammasomes or cytoplasmic nucleic acid sensors …