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 …
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 …
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 …
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 …
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 …
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 …
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 …
(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 …
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 …
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
Predominantly antibody deficiency (PAD) is the most prevalent form of primary
immunodeficiency, and is characterized by broad clinical, immunological and genetic …
immunodeficiency, and is characterized by broad clinical, immunological and genetic …