Host genetics and infectious disease: new tools, insights and translational opportunities

AJ Kwok, A Mentzer, JC Knight - Nature Reviews Genetics, 2021 - nature.com
Understanding how human genetics influence infectious disease susceptibility offers the
opportunity for new insights into pathogenesis, potential drug targets, risk stratification …

Genetics and epigenetics of autoimmune thyroid diseases: Translational implications

HJ Lee, M Stefan–Lifshitz, CW Li, Y Tomer - Best Practice & Research …, 2023 - Elsevier
Hashimoto's thyroiditis (HT) and Graves' disease (GD) are prevalent autoimmune disorders,
representing opposite ends of the clinical spectrum of autoimmune thyroid diseases (AITD) …

B cells orchestrate tolerance to the neuromyelitis optica autoantigen AQP4

AM Afzali, L Nirschl, C Sie, M Pfaller, O Ulianov… - Nature, 2024 - nature.com
Neuromyelitis optica is a paradigmatic autoimmune disease of the central nervous system,
in which the water-channel protein AQP4 is the target antigen. The immunopathology in …

The CD40-CD40L dyad as immunotherapeutic target in cardiovascular disease

LA Bosmans, L Bosch, PJH Kusters, E Lutgens… - Journal of …, 2021 - Springer
Chronic inflammation drives the development of atherosclerosis. Despite optimal treatment
of classical cardiovascular risk factors, a substantial portion of the population has elevated …

CD40/CD40L and related signaling pathways in cardiovascular health and disease—the pros and cons for cardioprotection

S Daub, E Lutgens, T Münzel, A Daiber - International journal of …, 2020 - mdpi.com
The CD40–CD40 ligand (CD40L) dyad represents a scientific and clinical field that has
raised many controversies in the past and cannot be clearly defined as being an either …

Unbiased assessment of genome integrity and purging of adverse outcomes at the target locus upon editing of CD4+ T‐cells for the treatment of Hyper IgM1

D Canarutto, C Asperti, V Vavassori, S Porcellini… - The EMBO …, 2023 - embopress.org
Hyper IgM1 is an X‐linked combined immunodeficiency caused by CD40LG mutations,
potentially treatable with CD4+ T‐cell gene editing with Cas9 and a “one‐size‐fits‐most” …

Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China

H Fan, L Huang, D Yang, C Zhang, Q Zeng, G Yin, G Lu… - BMC pediatrics, 2022 - Springer
Background X-linked hyper-immunoglobulin M (XHIGM), a primary immunodeficiency
syndrome caused by mutations in the CD40 ligand gene (CD40LG), presents with recurrent …

Transcriptional regulation of B cell class-switch recombination: the role in development of noninfectious complications

S Vlachiotis, H Abolhassani - Expert Review of Clinical …, 2022 - Taylor & Francis
Introduction The process of immunoglobulin class switch recombination (CSR) occurs in
secondary lymphoid organs. This highly regulated process is essential for the development …

Cryptococcal meningitis and post-infectious inflammatory response syndrome in a patient with X-linked hyper IgM syndrome: a case report and review of the literature

L Romani, PR Williamson, S Di Cesare… - Frontiers in …, 2021 - frontiersin.org
The hyper IgM syndromes are a rare group of primary immunodeficiency. The X-linked
Hyper IgM syndrome (HIGM), due to a gene defect in CD40L, is the commonest variant; it is …

Overview of human B-cell development and antibody deficiencies

SL Nandiwada - Journal of Immunological Methods, 2023 - Elsevier
B cells are a key component of the humoral (antibody-mediated) immune response which is
responsible for defense against a variety of pathogens. Here we provide an overview of the …