VEXAS syndrome
VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a
monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic …
monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic …
[HTML][HTML] Epithelial–immune cell interplay in primary Sjögren syndrome salivary gland pathogenesis
GM Verstappen, S Pringle, H Bootsma… - Nature Reviews …, 2021 - nature.com
In primary Sjögren syndrome (pSS), the function of the salivary glands is often considerably
reduced. Multiple innate immune pathways are likely dysregulated in the salivary gland …
reduced. Multiple innate immune pathways are likely dysregulated in the salivary gland …
[HTML][HTML] Evolution of immune responses to SARS-CoV-2 in mild-moderate COVID-19
The durability of infection-induced SARS-CoV-2 immunity has major implications for
reinfection and vaccine development. Here, we show a comprehensive profile of antibody, B …
reinfection and vaccine development. Here, we show a comprehensive profile of antibody, B …
Distinction of lymphoid and myeloid clonal hematopoiesis
Clonal hematopoiesis (CH) results from somatic genomic alterations that drive clonal
expansion of blood cells. Somatic gene mutations associated with hematologic …
expansion of blood cells. Somatic gene mutations associated with hematologic …
[HTML][HTML] A probabilistic classification tool for genetic subtypes of diffuse large B cell lymphoma with therapeutic implications
GW Wright, JD Phelan, ZA Coulibaly, S Roulland… - Cancer cell, 2020 - cell.com
The development of precision medicine approaches for diffuse large B cell lymphoma
(DLBCL) is confounded by its pronounced genetic, phenotypic, and clinical heterogeneity …
(DLBCL) is confounded by its pronounced genetic, phenotypic, and clinical heterogeneity …
Clonal haematopoiesis and dysregulation of the immune system
Age-related diseases are frequently linked to pathological immune dysfunction, including
excessive inflammation, autoreactivity and immunodeficiency. Recent analyses of human …
excessive inflammation, autoreactivity and immunodeficiency. Recent analyses of human …
Human T-bet governs the generation of a distinct subset of CD11chighCD21low B cells
High-level expression of the transcription factor T-bet characterizes a phenotypically distinct
murine B cell population known as “age-associated B cells”(ABCs). T-bet–deficient mice …
murine B cell population known as “age-associated B cells”(ABCs). T-bet–deficient mice …
[HTML][HTML] Diverse mutational landscapes in human lymphocytes
HE Machado, E Mitchell, NF Øbro, K Kübler, M Davies… - Nature, 2022 - nature.com
The lymphocyte genome is prone to many threats, including programmed mutation during
differentiation, antigen-driven proliferation and residency in diverse microenvironments …
differentiation, antigen-driven proliferation and residency in diverse microenvironments …
Transitioning single-cell genomics into the clinic
The use of genomics is firmly established in clinical practice, resulting in innovations across
a wide range of disciplines such as genetic screening, rare disease diagnosis and …
a wide range of disciplines such as genetic screening, rare disease diagnosis and …
Somatic mutations in “benign” disease
S Mustjoki, NS Young - New England Journal of Medicine, 2021 - Mass Medical Soc
Somatic Mutations in “Benign” Disease DNA mutations occur in nearly every tissue
throughout the human life span and accumulate at various rates in different tissues …
throughout the human life span and accumulate at various rates in different tissues …