A family has been identified in the Canadian province of Prince Edward Island in which 2 sisters have systemic lupus erythematosus in a sibship of 14. Studies are reported on 11 of the siblings and 16 other family members. The affected siblings, and 4 other members of their sibship, are halfnull homozygotes for the C4A component of complement. We studied the distribution in family members of antibodies to ss and dsDNA, and to Ro(SSA), La(SSB), Sm and nRNP. Eight of 11 members of the affected sibship are antibody producers, compared to only 3 of 13 members of the parental generation. Our study provides further evidence for an association between null genes for C4A and familial lupus, and suggests, in an unusually large kindred, that several other genetic factors are involved in the production of antinuclear antibodies.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Belimumab as a potential therapeutic option for bullous systemic lupus erythematosus.
Ital J Dermatol Venerol
January 2025
Section of Dermatology, Department of Medical, Surgical, and Neurological Sciences, Santa Maria alle Scotte Hospital, Siena, Italy.
Application of the Monoclonal Autoantibody and Its Target Protein Derived from the Peripheral Blood of SLE Patients in Serological Diagnosis and Differential Diagnosis of SLE.
Immunol Invest
January 2025
Key Laboratory of Aging and Cancer Biology of Zhejiang Province, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, China.
Introduction: Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder with limited reliable diagnostic biomarkers. This study evaluates the utility of DEAD-box helicase 5 (DDX5) as a diagnostic and differential marker for SLE and assesses the performance of a capture bead-based flow cytometry (CBFCM) method for detecting serum proteins.
Method: Serum samples were collected from 52 patients with SLE, 38 patients with rheumatoid arthritis (RA), 49 patients with lung cancer (LC), and 50 healthy controls (HCs).
A Case of Severe Lupus and Refractory Anemia.
Cureus
December 2024
Internal Medicine, Hospital da Senhora da Oliveira, Guimarães, PRT.
Systemic lupus erythematosus (SLE) is a multisystemic connective tissue disease with a wide range of clinical and laboratory manifestations. The diagnosis of SLE is often challenging due to the great variability in its presentation, and treatment should be individualized according to the patient's manifestations and affected organs. We present the clinical case of a 25-year-old female who developed SLE with severe hematological and renal involvement as first manifestations, including hemolytic anemia, thrombocytopenia, and nephrotic syndrome.
View Article and Find Full Text PDFExploring the shared gene signatures and mechanism among three autoimmune diseases by bulk RNA sequencing integrated with single-cell RNA sequencing analysis.
Front Mol Biosci
January 2025
Department of Neurology, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
Background: Emerging evidence underscores the comorbidity mechanisms among autoimmune diseases (AIDs), with innovative technologies such as single-cell RNA sequencing (scRNA-seq) significantly advancing the explorations in this field. This study aimed to investigate the shared genes among three AIDs-Multiple Sclerosis (MS), Systemic Lupus Erythematosus (SLE), and Rheumatoid Arthritis (RA) using bioinformatics databases, and to identify potential biomarkers for early diagnosis.
Methods: We retrieved transcriptomic data of MS, SLE, and RA patients from public databases.
Ultrasonographic assessment of optic nerve: does it help in lupus-induced optic neuropathy?
Lupus Sci Med
January 2025
Physical Medicine, Rheumatology & Rehabilitation, School of Medicine, Tanta University, Tanta, Egypt.
Objective: Evaluating the potential role of neuromuscular ultrasonography (NMUS) in assessing optic nerve affection in patients with systemic lupus erythematosus (SLE), compared with healthy controls and other conventional strategies in diagnosing optic neuropathy.
Methods: We conducted an observational cross-sectional study comparing patients with SLE and a healthy group. We measured the optic nerve diameter (OND) and optic nerve sheath diameter (ONSD) and calculated the OND/ONSD ratio and side-to-side difference.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!