Genetics of chronic kidney disease
A Vivante - New England Journal of Medicine, 2024 - Mass Medical Soc
Key Points Genetics of Chronic Kidney Disease Genetic causes of chronic kidney disease
(CKD) are not uncommon. Patients with CKD should be referred for genetic consultation and …
(CKD) are not uncommon. Patients with CKD should be referred for genetic consultation and …
Systemic lupus erythematosus in children and young people
Abstract Purpose of Review Juvenile-onset systemic lupus erythematosus ((j) SLE) is an
autoimmune/inflammatory disease that results in significant damage and disability. When …
autoimmune/inflammatory disease that results in significant damage and disability. When …
Anifrolumab efficacy and safety by type I interferon gene signature and clinical subgroups in patients with SLE: post hoc analysis of pooled data from two phase III …
Objectives To characterise the efficacy and safety of anifrolumab in patients with systemic
lupus erythematosus (SLE) according to interferon gene signature (IFNGS), demographic …
lupus erythematosus (SLE) according to interferon gene signature (IFNGS), demographic …
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy
Heterozygous gain-of-function (GOF) mutations in STAT1 in patients with chronic
mucocutaneous candidiasis (CMC) and hypothyroidism were discovered in 2011. CMC is …
mucocutaneous candidiasis (CMC) and hypothyroidism were discovered in 2011. CMC is …
Systemic lupus erythematosus as a genetic disease
Systemic lupus erythematosus is the prototypical systemic autoimmune disease, as it is
characterized both by protean multi-organ system manifestations and by the uniform …
characterized both by protean multi-organ system manifestations and by the uniform …
Monogenic lupus: tracing the therapeutic implications from single gene mutations
X Jia, L Tan, S Chen, R Tang, W Chen - Clinical Immunology, 2023 - Elsevier
Monogenic lupus, a distinctive variant of systemic lupus erythematosus (SLE), is
characterized by early onset, family-centric clustering, and heightened disease severity. So …
characterized by early onset, family-centric clustering, and heightened disease severity. So …
Genetic approaches to study rheumatic diseases and its implications in clinical practice
D Rowczenio, I Aksentijevich - Arthritis & Rheumatology, 2024 - Wiley Online Library
Patients with rare and complex rheumatic diseases (RDs) present with immense clinical
variability inherent to all immunologic diseases. In addition to systemic and organ‐specific …
variability inherent to all immunologic diseases. In addition to systemic and organ‐specific …
[HTML][HTML] Revisiting childhood-onset systemic lupus erythematosus
PÖ Avar-Aydın, HI Brunner - Turkish Archives of Pediatrics, 2024 - pmc.ncbi.nlm.nih.gov
Childhood-onset systemic lupus erythematosus (cSLE) is a chronic autoimmune disease
with a multisystemic involvement diagnosed during childhood. The disease is marked by the …
with a multisystemic involvement diagnosed during childhood. The disease is marked by the …
The phosphatase PTEN links platelets with immune regulatory functions of mouse T follicular helper cells
X Chen, Y Xu, Q Chen, H Zhang, Y Zeng… - Nature …, 2022 - nature.com
Beyond a function in hemostasis and thrombosis, platelets can regulate innate and adaptive
immune responses. Hyperactive platelets are frequently associated with multiple human …
immune responses. Hyperactive platelets are frequently associated with multiple human …
Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus
KM Vazzana, AM Musolf, JE Bailey-Wilson… - Genes & …, 2023 - nature.com
Childhood-onset systemic lupus erythematosus (cSLE) patients are unique, with hallmarks
of Mendelian disorders (early-onset and severe disease) and thus are an ideal population …
of Mendelian disorders (early-onset and severe disease) and thus are an ideal population …