Non-homologous DNA end joining and alternative pathways to double-strand break repair

HHY Chang, NR Pannunzio, N Adachi… - … reviews Molecular cell …, 2017 - nature.com
DNA double-strand breaks (DSBs) are the most dangerous type of DNA damage because
they can result in the loss of large chromosomal regions. In all mammalian cells, DSBs that …

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 …

Safety and efficacy of the mRNA BNT162b2 vaccine against SARS-CoV-2 in five groups of immunocompromised patients and healthy controls in a prospective open …

P Bergman, O Blennow, L Hansson, S Mielke… - …, 2021 - thelancet.com
Background Patients with immunocompromised disorders have mainly been excluded from
clinical trials of vaccination against COVID-19. Thus, the aim of this prospective clinical trial …

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 …

The pathogenesis of giant condyloma acuminatum (Buschke-Lowenstein tumor): an overview

D Purzycka-Bohdan, RJ Nowicki, F Herms… - International Journal of …, 2022 - mdpi.com
Giant condyloma acuminatum, also known as Buschke-Lowenstein tumor (BLT), is a rare
disease of the anogenital region. BLT is considered a locally aggressive tumor of benign …

Use of genetic testing for primary immunodeficiency patients

JR Heimall, D Hagin, J Hajjar, SE Henrickson… - Journal of clinical …, 2018 - Springer
Genetic testing plays a critical role in diagnosis for many primary immunodeficiency
diseases. The goals of this report are to outline some of the challenges that clinical …

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 …

[HTML][HTML] Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass …

E Blanco, M Pérez-Andrés, S Arriba-Méndez… - Journal of Allergy and …, 2019 - Elsevier
Background Predominantly antibody deficiencies (PADs) are the most prevalent primary
immunodeficiencies, but their B-cell defects and underlying genetic alterations remain …

EuroFlow-based flowcytometric diagnostic screening and classification of primary immunodeficiencies of the lymphoid system

JJM Van Dongen, M Van der Burg, T Kalina… - Frontiers in …, 2019 - frontiersin.org
Guidelines for screening for primary immunodeficiencies (PID) are well-defined and several
consensus diagnostic strategies have been proposed. These consensus proposals have …

Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis

V Béziat - Human genetics, 2020 - Springer
Human papillomaviruses (HPVs) infect mucosal or cutaneous stratified epithelia. There are
5 genera and more than 200 types of HPV, each with a specific tropism and virulence. HPV …