Monogenic forms of systemic lupus erythematosus: new insights into SLE pathogenesis
نویسندگان
چکیده
The pathogenesis of Systemic Lupus Erythematosus (SLE) is complex and remains poorly understood. Infectious triggers, genetic background, immunological abnormalities and environmental factors are all supposed to interact for the disease development. Familial SLE as well as early-onset juvenile SLE studies make it possible to identify monogenic causes of SLE. Identification of these rare inherited conditions is of great interest to understand both SLE pathogenesis and molecular human tolerance mechanisms. Complement deficiencies, genetic overproduction of interferon-α and apoptosis defects are the main situations that can lead to monogenic SLE.Here, we review the different genes involved in monogenic SLE and highlight their importance in SLE pathogenesis.
منابع مشابه
PReS-FINAL-2173: Protein kinase C delta deficiency is a new cause of monogenic SLE
Introduction Systemic lupus erythematosus (SLE) is a prototype autoimmune disease. Infectious triggers, genetic background, immunological abnormalities and environmental factors are all supposed to interact in disease development. Rare causes of monogenic SLE have been described, (e.g. complement deficiencies, interferonopathies and FasL deficiency) providing unique insights into fundamental me...
متن کاملEffects of Major Epigenetic Factors on Systemic Lupus Erythematosus
The pathogenesis of systemic lupus erythematosus (SLE) is influenced by both genetic factors and epigenetic modifications; the latter is a result of exposure to various environmental factors. Epigenetic modifications affect gene expression and alter cellular functions without modifying the genomic sequences. CpG-DNA methylation, histone modifications, and miRNAs are the main epigenetic factors ...
متن کاملA review on the latest clinical and laboratory criteria for clinical diagnosis of Systemic Lupus Erythematosus
Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease with various organs involvement which early diagnosis of disease is critical for successful treatment. The subjects with the possibility of SLE who visit by physician, their full medical history and specific immunological tests should investigate precisely in order to subsequently asses their hematological and renal parameters t...
متن کاملNEW INSIGHTS INTO THE PATHOGENESIS OF SYSTEMIC LUPUS ERYTHEMATOSUS (SLE): the role of apoptosis
متن کامل
IL-17 is Aberrantly Overexpressed Among Under-treatment Systemic Lupus Erythematosus Patients
Background & Objective: Systemic lupus erythematosus (SLE) is an autoimmune disease with chronic inflammatory immune response. Current therapies mostly rely on glucocorticoids which are accompanied by side-effects and mostly fail to achieve a favorable remission. Th17 subpopulation of T cells is increased in exacerbated SLE as IL-17 cytokine is overexpressed. ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 10 شماره
صفحات -
تاریخ انتشار 2012