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

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 …

Heterozygous mutations in CTLA-4 result in an inborn error of immunity with an autoimmune
and frequently severe clinical phenotype. Autologous T cell gene therapy may offer a cure …

Inborn errors of immunity (IEIs) are immunological disorders characterized by variable
susceptibility to infections, immune dysregulation and/or malignancies, as a consequence of …

Common variable immunodeficiency (CVID) is the most common symptomatic primary
immunodeficiency (PID). CVID is a heterogenous condition and clinical manifestations may …

Predominantly antibody deficiencies (PAD) are a heterogeneous group of disorders
characterized by dysfunctional antibody production, low immunoglobulin levels in serum …

Loss of NBEAL2 function leads to grey platelet syndrome (GPS), a bleeding disorder
characterized by macro-thrombocytopenia and α-granule-deficient platelets. A proportion of …

The proximal part of the small intestine, including duodenum and jejunum, is not only
dedicated to nutrient digestion and absorption but is also a highly regulated immune site …

Introduction Patients with common variable immunodeficiency (CVID) have a high frequency
of inflammatory complications like autoimmune cytopenias, interstitial lung disease and …

Background LPS-responsive beige-like anchor (LRBA) deficiency (LRBA–/–) and cytotoxic T-
lymphocyte–associated antigen-4 (CTLA4) insufficiency (CTLA4+/–) are mechanistically …