Exploring the etiopathogenesis of systemic lupus erythematosus: a genetic perspective

A Javinani, A Ashraf-Ganjouei, S Aslani, A Jamshidi… - Immunogenetics, 2019 - Springer
Systemic lupus erythematosus (SLE) is an autoimmune multi-organ disorder that presents
itself in a thousand ways. Its clinical course is extremely unpredictable, which makes …

Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus: A multicenter study

AP Kısaarslan, SÖ Çiçek, ED Batu, S Şahin… - Joint bone spine, 2023 - Elsevier
Introduction Neuropsychiatric (NP) involvement is a restricted area in juvenile-onset
systemic lupus erythematosus (jSLE). Aim To investigate the prevalence, demographic and …

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

I Tirosh, S Spielman, O Barel, R Ram, T Stauber… - Pediatric …, 2019 - Springer
Background Systemic lupus erythematosus (SLE) comprise a diverse range of clinical
manifestations. To date, more than 30 single gene causes of lupus/lupus like syndromes in …

Panel sequencing links rare, likely damaging gene variants with distinct clinical phenotypes and outcomes in juvenile-onset SLE

A Charras, S Haldenby, EMD Smith, N Egbivwie… - …, 2023 - academic.oup.com
Objectives Juvenile-onset systemic lupus erythematosus (jSLE) affects 15–20% of lupus
patients. Clinical heterogeneity between racial groups, age groups and individual patients …

Neuropsychiatric Involvement in Juvenile‐Onset Systemic Lupus Erythematosus

MA Khajezadeh, G Zamani, B Moazzami… - Neurology research …, 2018 - Wiley Online Library
Objective. Systemic lupus erythematosus (SLE) is a complex autoimmune disorder
characterized by multisystem involvement, including the nervous system. In the present …

Phenotype and disease course differences in monogenic and sporadic childhood lupus

SM Al-Mayouf, F Alkhars, A AlSaleem - Lupus, 2023 - journals.sagepub.com
Objective To report the differences in phenotypic characteristics, disease course, and
outcome in monogenic and sporadic childhood lupus (SC-lupus) from a single tertiary …

Abnormal membrane-bound and soluble programmed death ligand 2 (PD-L2) expression in systemic lupus erythematosus is associated with disease activity

M Tong, X Fang, J Yang, P Wu, Y Guo, J Sun - Immunology Letters, 2020 - Elsevier
Programmed death ligand (PD-L) 2 and PD-L1 are the second and first ligands, respectively,
for programmed cell death-1 protein (PD-1), which is one of the key factors responsible for …

Ang-1, Ang-2, and Tie2 are diagnostic biomarkers for Henoch-Schönlein purpura and pediatric-onset systemic lupus erythematous

L Jia, X Li, J Shen, Y Teng, B Zhang, M Zhang… - Open Life …, 2024 - degruyter.com
Henoch-Schönlein purpura (HSP) and pediatric-onset systemic lupus erythematosus (pSLE)
are closely associated with vasculitis and vascular diseases. This study aimed to investigate …

[HTML][HTML] Autoimmune and chronic neutropenia

PM Chaudhari, SKR Mukkamalla - StatPearls [Internet], 2023 - ncbi.nlm.nih.gov
Objectives: Outline the etiology of autoimmune and idiopathic neutropenia. Review the
evaluation of autoimmune and idiopathic neutropenia. Summarize the treatment of …

Complex medical history of a patient with a compound heterozygous mutation in C1QC

R Lubbers, LJJ Beaart-van de Voorde… - Lupus, 2019 - journals.sagepub.com
Introduction C1q is an essential part of the classical pathway of complement activation.
Genetic deficiencies, caused by homozygous mutations in one of the C1q genes, are rare …