Autosomal systemic lupus erythematosus
Synonyms: Autosomal SLE | Familial SLE | Familial systemic lupus erythematosus
Autosomal systemic lupus erythematosus is a rare genetic multisystemic chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations including cutaneous (malar rash photosensitivity) ocular (keratoconjunctivitis sicca retinopathy) gastrointestinal (oral ulceration abdominal pain) cardiac (atherosclerosis chest pain) pulmonary (serositis pleurisy) musculoskeletal (arthralgia myalgia) renal (nephritis hematuria) obstetrical (increased spontaneous abortions neonatal lupus) constitutional (fatigue loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement among others.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Autosomal systemic lupus erythematosus?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Autoimmune Registry Inc.
Autoimmune Registry, Inc., ARI, is a 501(c)(3) non-profit umbrella organization that provides a hub for research, statistics, and patient data on all autoimmune diseases. Since 2016 we have operated a database for patients who suffer from any autoimmune disease. Our mission is to reduce the time of diagnosis, support research, compute prevalence statistics, and establish autoimmune disease as a major class of disease so that it receives the awareness of the public, the attention of healthcare providers, and the appropriate funding needed to improve upon existing treatment protocols and disease management strategies.
FSIC American Innovation and Opportunity Fund
Mission Statement: Renewing communities through innovation and economic empowerment AIOF's mission is to gather information from target communities, develop solutions, and educate the target communities how to support the solutions through advocacy locally & nationally. AIOF's main areas of focus on are 1) Economic Empowerment and Inclusion 2) Health Care Equity 3) Technology Inclusion
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
For a list of clinical trials in this disease area, please click here.