Inflammatory bowel diseases (IBDs) are systemic diseases that manifest not only in the gut
and gastrointestinal tract, but also in the extraintestinal organs in many patients. The quality …

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 …

Background: It is important to identify patients with monogenic IBD as management may
differ from classical IBD. In this position statement we formulate recommendations for the …

Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

Genomic medicine enables the identification of patients with rare or ultra-rare monogenic
forms of inflammatory bowel disease (IBD) and supports clinical decision making. Patients …

Transcription factors specialized to limit the destructive potential of inflammatory immune
cells remain ill-defined. We discovered loss-of-function variants in the X-linked ETS …

Cytotoxic T lymphocyte antigen 4 (CTLA-4) haploinsufficiency (CHAI) and
lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency (LATAIE) are newly …

Inflammatory bowel disease (IBD), historically subdivided into Crohn's disease and
ulcerative colitis, is a very heterogeneous condition. While the tendency in medicine is to try …

Owing to advances in genomics that enable differentiation of molecular aetiologies, patients
with monogenic inflammatory bowel disease (mIBD) potentially have access to genotype …

Deficiency in X-linked inhibitor of apoptosis protein (XIAP) is the cause for X-linked
lymphoproliferative syndrome 2 (XLP2). About one-third of these patients suffer from severe …