Very early onset inflammatory bowel disease: a clinical approach with a focus on the role of genetics and underlying immune deficiencies

J Ouahed, E Spencer, D Kotlarz… - Inflammatory bowel …, 2020 - academic.oup.com
Very early onset inflammatory bowel disease (VEO-IBD) is defined as IBD presenting before
6 years of age. When compared with IBD diagnosed in older children, VEO-IBD has some …

Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

DJA Bogaert, M Dullaers, BN Lambrecht… - Journal of medical …, 2016 - jmg.bmj.com
Common variable immunodeficiency (CVID) is a primary antibody deficiency characterised
by hypogammaglobulinaemia, impaired production of specific antibodies after immunisation …

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 …

Uses of next-generation sequencing technologies for the diagnosis of primary immunodeficiencies

M Seleman, R Hoyos-Bachiloglu, RS Geha… - Frontiers in …, 2017 - frontiersin.org
Primary immunodeficiencies (PIDs) are genetic disorders impairing host immunity, leading
to life-threatening infections, autoimmunity, and/or malignancies. Genomic technologies …

The Rapidly Expanding Genetic Spectrum of Common Variable Immunodeficiency–Like Disorders

R Ameratunga, ESJ Edwards, K Lehnert… - The Journal of Allergy …, 2023 - Elsevier
The understanding of common variable immunodeficiency disorders (CVID) is in evolution.
CVID was previously a diagnosis of exclusion. New diagnostic criteria have allowed the …

14 years after discovery: clinical follow-up on 15 patients with inducible co-stimulator deficiency

J Schepp, J Chou, A Skrabl-Baumgartner… - Frontiers in …, 2017 - frontiersin.org
Background Inducible co-stimulator (ICOS) deficiency was the first monogenic defect
reported to cause common variable immunodeficiency (CVID)-like disease in 2003. Since …

Heterogeneity of liver disease in common variable immunodeficiency disorders

A Pecoraro, L Crescenzi, G Varricchi… - Frontiers in …, 2020 - frontiersin.org
Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency
(PID) in adulthood and is characterized by severe reduction of immunoglobulin serum levels …

Inducible T-cell co-stimulator ligand (ICOSL) blockade leads to selective inhibition of anti-KLH IgG responses in subjects with systemic lupus erythematosus

BA Sullivan, W Tsuji, A Kivitz, J Peng… - Lupus science & …, 2016 - lupus.bmj.com
Objectives To evaluate the safety, tolerability, pharmacokinetics (PK) and
pharmacodynamics (PD) of single-dose and multiple-dose administration of AMG 557, a …

Of mycelium and men: inherent human susceptibility to fungal diseases

DC Vinh - Pathogens, 2023 - mdpi.com
In medical mycology, the main context of disease is iatrogenic-based disease. However,
historically, and occasionally, even today, fungal diseases affect humans with no obvious …

Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency

ESJ Edwards, JJ Bosco, S Ojaimi, RE O'Hehir… - Cellular & Molecular …, 2021 - nature.com
Predominantly antibody deficiency (PAD) is the most prevalent form of primary
immunodeficiency, and is characterized by broad clinical, immunological and genetic …