Genetics of human telomere biology disorders

P Revy, C Kannengiesser, AA Bertuch - Nature Reviews Genetics, 2023 - nature.com
Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …

Glomerulonephritis: immunopathogenesis and immunotherapy

HJ Anders, AR Kitching, N Leung… - Nature Reviews …, 2023 - nature.com
Abstract 'Glomerulonephritis'(GN) is a term used to describe a group of heterogeneous
immune-mediated disorders characterized by inflammation of the filtration units of the kidney …

A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic data sets

C Vlasschaert, T Mack, JB Heimlich… - Blood, The Journal …, 2023 - ashpublications.org
Clonal hematopoiesis of indeterminate potential (CHIP) is a common form of age-related
somatic mosaicism that is associated with significant morbidity and mortality. CHIP mutations …

Spectrum of clonal hematopoiesis in VEXAS syndrome

F Gutierrez-Rodrigues, Y Kusne… - Blood, The Journal …, 2023 - ashpublications.org
Abstract Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is
caused by somatic mutations in UBA1 (UBA1 mut) and characterized by heterogenous …

Single-cell multi-omics of human clonal hematopoiesis reveals that DNMT3A R882 mutations perturb early progenitor states through selective hypomethylation

AS Nam, N Dusaj, F Izzo, R Murali, RM Myers… - Nature …, 2022 - nature.com
Somatic mutations in cancer genes have been detected in clonal expansions across healthy
human tissue, including in clonal hematopoiesis. However, because mutated and wild-type …

Azacitidine for patients with vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French …

T Comont, M Heiblig, E Rivière… - British journal of …, 2022 - Wiley Online Library
Azacitidine can be effective in myelodysplastic syndromes (MDS) associated with
inflammatory/autoimmune diseases. Vacuoles, E1 Enzyme, X‐linked, Autoinflammatory …

An update on VEXAS syndrome

A Al-Hakim, S Savic - Expert Review of Clinical Immunology, 2023 - Taylor & Francis
Introduction VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome
is a recently described, late-onset, acquired autoinflammatory disorder caused by mutations …

Clonal hematopoiesis, somatic mosaicism, and age-associated disease

MA Evans, K Walsh - Physiological Reviews, 2023 - journals.physiology.org
Somatic mosaicism, the occurrence of multiple genetically distinct cell clones within the
same tissue, is an evitable consequence of human aging. The hematopoietic system is no …

Long-term outcomes in patients with severe aplastic anemia treated with immunosuppression and eltrombopag: a phase 2 study

BA Patel, EM Groarke, J Lotter… - Blood, The Journal …, 2022 - ashpublications.org
Patients with severe aplastic anemia (SAA) are either treated with bone marrow transplant
(BMT) or immunosuppression (IST) depending on their age, comorbidities, and available …

Naturally occurring T cell mutations enhance engineered T cell therapies

J Garcia, J Daniels, Y Lee, I Zhu, K Cheng, Q Liu… - Nature, 2024 - nature.com
Adoptive T cell therapies have produced exceptional responses in a subset of patients with
cancer. However, therapeutic efficacy can be hindered by poor T cell persistence and …