MCID: ATM095
MIFTS: 62

Autoimmune Disease

Categories: Immune diseases, Liver diseases, Skin diseases
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Aliases & Classifications for Autoimmune Disease

MalaCards integrated aliases for Autoimmune Disease:

Name: Autoimmune Disease 57 11 28 14 16 75
Autoimmune Diseases 53 41 43 14 71
Hypersensitivity Reaction Type Ii Disease 11
Type Ii Hypersensitivity Reaction Disease 16
Autoimmune Hypersensitivity Disease 11

Characteristics:


Inheritance:

Autosomal dominant gene epistatic to other secondary genes conferring specificity to the autoimmune phenotype 57

Classifications:



External Ids:

Disease Ontology 11 DOID:417
OMIM® 57 109100
ICD9CM 34 720
MeSH 43 D001327
MedGen 40 C0004364
UMLS 71 C0003089 C0004364

Summaries for Autoimmune Disease

MedlinePlus: 41 What are autoimmune diseases? Your immune system protects you from disease and infection by attacking germs that get into your body, such as viruses and bacteria. Your immune system can tell that the germs aren't part of you, so it destroys them. If you have an autoimmune disease, your immune system attacks the healthy cells of your organs and tissues by mistake. There are more than 80 types of autoimmune diseases. They can affect almost any part of your body. For example, alopecia areata is an autoimmune disease of the skin that causes hair loss. Autoimmune hepatitis affects the liver. In type 1 diabetes, the immune system attacks the pancreas. And in rheumatoid arthritis, the immune system can attack many parts of the body, including the joints, lungs, and eyes. What causes autoimmune diseases? No one is sure why autoimmune diseases happen. But you can't catch them from other people. Autoimmune diseases do tend to run in families, which means that certain genes may make some people more likely to develop a problem. Viruses, certain chemicals, and other things in the environment may trigger an autoimmune disease if you already have the genes for it. Who is at risk for autoimmune diseases? Millions of Americans of all ages have autoimmune diseases. Women develop many types of autoimmune diseases much more often than men. And if you have one autoimmune disease, you are more likely to get another. What are the symptoms of autoimmune diseases? The symptoms of an autoimmune disease depend on the part of your body that's affected. Many types of autoimmune diseases cause redness, swelling, heat, and pain, which are the signs and symptoms of inflammation. But other illnesses can cause the same symptoms. The symptoms of autoimmune diseases can come and go. During a flare-up, your symptoms may get severe for a while. Later on, you may have a remission, which means that your symptoms get better or disappear for a period of time. How are autoimmune diseases diagnosed? Doctors often have a hard time diagnosing autoimmune diseases. There's usually not a specific test to show whether you have a certain autoimmune disease. And the symptoms can be confusing. That's because many autoimmune diseases have similar symptoms. And some symptoms, such as muscle aches, are common in many other illnesses. So it can take a long time and some visits to different types of doctors to get a diagnosis. To help your doctor find out if an autoimmune disease is causing your symptoms,: Learn about the health conditions in your family history. What health problems did your grandparents, aunts, uncles, and cousins have? Write down what you learn and share it with your doctor. Keep track of your symptoms, including how long they last and what makes them better or worse. Share your notes with your doctor. See a specialist who deals with the symptoms that bother you most. For example, if you have rash, see a dermatologist (skin doctor). What are the treatments for autoimmune diseases? The treatment depends on the disease. In most cases, the goal of treatment is to suppress (slow down) your immune system, and ease swelling, redness, and pain from inflammation. Your doctor may give you corticosteroids or other medicines to help you feel better. For some diseases, you may need treatment for the rest of your life.

MalaCards based summary: Autoimmune Disease, also known as autoimmune diseases, is related to vitiligo-associated multiple autoimmune disease susceptibility 1 and systemic lupus erythematosus. An important gene associated with Autoimmune Disease is AIS4 (Autoimmune Disease, Susceptibility To, 4), and among its related pathways/superpathways are Innate Immune System and MIF Mediated Glucocorticoid Regulation. The drugs Ledipasvir and Sofosbuvir have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone marrow and skin, and related phenotypes are autoimmune antibody positivity and liver/biliary system

Disease Ontology: 11 An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.

Wikipedia: 75 An autoimmune disease is a condition arising from an abnormal immune response to a functioning body... more...

More information from OMIM: 109100

Related Diseases for Autoimmune Disease

Diseases related to Autoimmune Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1825)
# Related Disease Score Top Affiliating Genes
1 vitiligo-associated multiple autoimmune disease susceptibility 1 33.6 TNF PTPN22 IL2 IL17A FOXP3 CTLA4
2 systemic lupus erythematosus 33.3 TNFSF13B TNF STAT3 PTPN22 IL6 IL2
3 autoimmune disease of endocrine system 33.3 TNF PTPN22 IL6 IL2 IL17A IL10
4 autoimmune disease of musculoskeletal system 33.3 TNFSF13B TNF STAT3 PTPN22 IL6 IL2
5 autoimmune disease of skin and connective tissue 33.2 TNF STAT3 IL6 IL2 IL17A IL10
6 autoimmune disease of gastrointestinal tract 33.2 TNF STAT3 IL6 IL2 IL17A IL10
7 autoimmune disease of cardiovascular system 33.2 TNF IL6 IL2 IL17A IL10 IFNG
8 autoimmune disease of blood 33.2 TNFSF13B TNF IL6 IL2 IL17A IL10
9 autoimmune disease of exocrine system 33.2 TNFSF13B TNF IL6 IL2 IL17A IL10
10 autoimmune disease of eyes, ear, nose and throat 33.1 TNF IL6 IL2 IL17A IL10 FOXP3
11 myasthenia gravis 33.1 TNFSF13B TNF PTPN22 IL6 IL2 IL10
12 autoimmune disease of peripheral nervous system 33.1 TNFSF13B TNF IL6 IL17A IL10
13 celiac disease 1 33.0 TNFSF13B TNF STAT3 PTPN22 IL6 IL2
14 type 1 diabetes mellitus 33.0 TNF PTPN22 IL6 IL17A IL10 IFNG
15 multiple sclerosis 33.0 TNFSF13B TNF STAT3 PTPN22 IL6 IL2
16 rheumatoid arthritis 32.9 TNFSF13B TNF PTPN22 IL6 IL2 IL17A
17 autoimmune disease of central nervous system 32.9 TNF IL6 IL2 IL17A IL10 IFNG
18 primary biliary cholangitis 32.9 TNF IL6 IL2 IL17A IL10 FOXP3
19 alopecia areata 32.9 TNF PTPN22 IL6 IL2 IL17A IFNG
20 autoimmune hepatitis 32.8 TNF PTPN22 IL10 IFNG HLA-A FOXP3
21 hashimoto thyroiditis 32.8 PTPN22 IFNG ENO1 CTLA4 AIRE
22 diabetes mellitus 32.8 TNF STAT3 PTPN22 IL6 IL2 IL17A
23 graves' disease 32.8 PTPN22 IFNG HLA-A CTLA4 AIRE
24 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 32.7 STAT3 IL2 IL17A IL10 FOXP3 CTLA4
25 uveitis 32.7 TNF IL6 IL2 IL17A IL10 IFNG
26 autoimmune myocarditis 32.7 TNF IL6 IL2 IL17A IL10 FOXP3
27 granulomatosis with polyangiitis 32.7 TNFSF13B TNF PTPN22 IL17A FOXP3 CTLA4
28 psoriasis 32.7 TNF STAT3 PTPN22 IL6 IL2 IL17A
29 common variable immunodeficiency 32.7 TNFSF13B TNF STAT3 IL6 IL2 IL10
30 temporal arteritis 32.6 TNFSF13B TNF PTPN22 IL6 IL2 IL17A
31 autoimmune uveitis 32.6 TNF IL6 IL2 IL17A IL10 HLA-A
32 pemphigus 32.6 TNFSF13B TNF IL6 IL17A IL10 CTLA4
33 mixed connective tissue disease 32.6 TNFSF13B TNF IL6 IL10 IFNG
34 anemia, autoimmune hemolytic 32.6 TNFSF13B IL6 IL2 IL10 FOXP3 CTLA4
35 exanthem 32.6 TNF IL6 IL2 IL17A IL10 IFNG
36 pemphigoid 32.5 TNF IL6 IL2 IL17A IL10 IFNG
37 autoimmune gastritis 32.5 IL2 IL17A FOXP3 CTLA4 AIRE
38 vogt-koyanagi-harada disease 32.5 TNF PTPN22 IL6 IL2 IL17A IL10
39 anterior uveitis 32.5 TNF IL6 IL2 IL17A IL10 IFNG
40 psoriatic arthritis 32.5 TNF PTPN22 IL6 IL17A IL10
41 juvenile rheumatoid arthritis 32.5 TNF PTPN22 IL6 IL2
42 melioidosis 32.5 TNF IL6 IL10 IFNG
43 autoimmune polyendocrine syndrome 32.4 PTPN22 IL17A FOXP3 AIRE
44 posterior uveitis 32.4 TNF IL6 IL2 IL17A HLA-A
45 graves ophthalmopathy 32.4 TNF IL6 IFNG CTLA4
46 immune system disease 32.4 TNF IL6 IL2 IL17A IL10 FOXP3
47 familial mediterranean fever 32.4 TNF IL6 IL17A IL10 HLA-A
48 myositis 32.4 TNF IL6 IL17A IFNG
49 iridocyclitis 32.4 TNF IL6 IL17A IL10
50 autoimmune vasculitis 32.4 TNF IL6 IL2 IL17A

Graphical network of the top 20 diseases related to Autoimmune Disease:



Diseases related to Autoimmune Disease

Symptoms & Phenotypes for Autoimmune Disease

Human phenotypes related to Autoimmune Disease:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmune antibody positivity 30 HP:0030057

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Immunology:
autoimmune disease

Lab:
high titer autoantibody

Clinical features from OMIM®:

109100 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Autoimmune Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 10.18 AIRE CTLA4 FOXP3 IFNG IL10 IL17A
2 endocrine/exocrine gland MP:0005379 10.18 AIRE CTLA4 FOXP3 HLA-A IFNG IL10
3 digestive/alimentary MP:0005381 10.1 AIRE CTLA4 FOXP3 IFNG IL10 IL17A
4 immune system MP:0005387 10.1 AIRE CTLA4 FOXP3 HLA-A IFNG IL10
5 no phenotypic analysis MP:0003012 10.03 AIRE FOXP3 HLA-A IFNG IL10 IL17A
6 neoplasm MP:0002006 10 AIRE IFNG IL10 IL2 IL6 STAT3
7 respiratory system MP:0005388 9.93 AIRE CTLA4 FOXP3 IFNG IL10 IL17A
8 hematopoietic system MP:0005397 9.8 AIRE CTLA4 FOXP3 HLA-A IFNG IL10
9 mortality/aging MP:0010768 9.5 AIRE CTLA4 ENO1 FOXP3 GAS5 HLA-A

Drugs & Therapeutics for Autoimmune Disease

Drugs for Autoimmune Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 301)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ledipasvir Approved Phase 4 1256388-51-8 67505836
2
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
3
Hydroxychloroquine Approved Phase 4 118-42-3 3652
4
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
5
Mitoxantrone Approved, Investigational Phase 4 70476-82-3, 65271-80-9 4212
6
Thalidomide Approved, Investigational, Withdrawn Phase 4 50-35-1 5426
7
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
8
Meticillin Approved, Investigational Phase 4 61-32-5 6087
9
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
10
Naproxen Approved, Vet_approved Phase 4 22204-53-1 156391 1302
11
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453
12 Vasoconstrictor Agents Phase 4
13 Angiogenesis Inhibitors Phase 4
14 Anti-Inflammatory Agents Phase 4
15 Antirheumatic Agents Phase 4
16 Antineoplastic Agents, Immunological Phase 4
17 Anti-Bacterial Agents Phase 4
18 Antibiotics, Antitubercular Phase 4
19 Antiprotozoal Agents Phase 4
20 Antiparasitic Agents Phase 4
21 Antimalarials Phase 4
22 Analgesics Phase 4
23 Anti-Inflammatory Agents, Non-Steroidal Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Cephalosporins Phase 4
26 Complement C3 Phase 4
27 Cyclooxygenase Inhibitors Phase 4
28
Nitroglycerin Approved, Investigational Phase 2, Phase 3 55-63-0 4510
29
Coenzyme M Approved, Investigational Phase 2, Phase 3 3375-50-6 598 23662354
30
Infliximab Approved Phase 3 170277-31-3
31
Golimumab Approved Phase 3 476181-74-5
32
Adalimumab Approved, Experimental Phase 3 331731-18-1
33
Etanercept Approved, Investigational Phase 3 185243-69-0
34
Aluminum sulfate Approved Phase 3 10043-01-3
35
Aluminum hydroxide Approved, Investigational Phase 3 21645-51-2
36
Sargramostim Approved, Investigational Phase 3 123774-72-1
37
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
38
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
39
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 3 67-97-0, 1406-16-2 5280795 10883523
40
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
41
Abetimus Investigational Phase 3 167362-48-3
42
Molgramostim Investigational Phase 3 99283-10-0
43 Immunologic Factors Phase 3
44 Immunoglobulins, Intravenous Phase 3
45 Vasodilator Agents Phase 2, Phase 3
46 gamma-Globulins Phase 3
47 Rho(D) Immune Globulin Phase 3
48 Tumor Necrosis Factor Inhibitors Phase 3
49 Hormones Phase 3
50 Pharmaceutical Solutions Phase 3

Interventional clinical trials:

(show top 50) (show all 348)
# Name Status NCT ID Phase Drugs
1 A Phase 4, Open-Label Study to Investigate the Efficacy and Safety of Ledipasvir/Sofosbuvir Fixed-Dose Combination for 12 Weeks in Subjects With Chronic Genotype 1 and 4 HCV Infection With Autoimmune Disease Unknown status NCT02691728 Phase 4 LDV/SOF FDC
2 Calcitriol in the Treatment of Immunoglobulin A Nephropathy Unknown status NCT00862693 Phase 4 Calcitriol
3 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Completed NCT00815282 Phase 4
4 A Placebo Controlled Trial of Amoxicillin for Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections Completed NCT00001658 Phase 4 Amoxicillin
5 A Pilot Study of Mitoxantrone for the Treatment of Recurrent Neuromyelitis Optica (Devic's Disease) Completed NCT00304291 Phase 4 Mitoxantrone
6 Study Evaluating Rapid Infusion Rituximab in Patients With Autoimmune Diseases Completed NCT02040116 Phase 4 Rituximab Infusion
7 Evaluation of Vaccination Against Influenza (Seasonal and H1N1) in Patients Presenting Systemic or Autoimmune Diseases Treated or Not With Steroids, and/or Immunosuppressant, and/or Biotherapy: an Open, Prospective Trial (MAIVAX) Completed NCT01065285 Phase 4
8 Relevance of Monitoring Blood Levels Compared to Salivar Levels of Drugs Used in Rheumatic Autoimmune Diseases: Adherence and Understanding the Possible Underlying Mechanisms Involved in Effectiveness and in Adverse Effects Completed NCT03122431 Phase 4 Thalidomide;Hydroxychloroquine reduced;standard dose of HCQ
9 Influence of Plasma Exchange Therapy on the Pharmacokinetics of Rituximab in Patients Treated for Autoimmune Disorders. Completed NCT00820469 Phase 4 Rituximab 375;rituximab 1000
10 Patient-Reported AutoImmunity Secondary to Cancer immunothErapy Recruiting NCT03849131 Phase 4
11 Antibiotic Prophylaxis in High-Risk Arthroplasty Patients Recruiting NCT04297592 Phase 4 Cephalexin Oral Tablet;Doxycycline Hyclate
12 A Multicenter, Randomized Controlled Clinical Study About Efficacy and Safety of Standard Dose and Individualized Dose of Rituximab in Maintaining Remission in Patients With Moderate to Severe Systemic Lupus Erythematosus Recruiting NCT04127747 Phase 4 Standard dose of rituximab;Individualized dose of rituximab
13 Double-Blind, Randomized, Placebo-Controlled Trial of Naproxen Sodium for the Treatment of Obsessive Compulsive Symptoms in Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infections (PANDAS) Recruiting NCT04015596 Phase 4 Naproxen Sodium
14 A Study of a Topical Formulation of Nitroglycerin, MQX-503, and Matching Vehicle in the Treatment and Prevention of Raynaud's Phenomenon Unknown status NCT00577304 Phase 3 Nitroglycerin;Topical AmphiMatrix
15 Clinical and Immunological Long-term Follow-up of Patients With Pemphigus Included in the "RITUXIMAB 3" Trial With Medico-economic Evaluation of the Treatment. Unknown status NCT03790293 Phase 3 Rituximab;corticosteroids'therapy
16 Immunogenicity and Duration of Immunity in Immunosuppressed Children Vaccinated With Quadrivalent HPV Vaccine Completed NCT02263703 Phase 3
17 Phase III Laboratory Study of a Topical Gel Formulation of Nitroglycerin, MQX-503, in the Treatment of Raynaud's Phenomenon Completed NCT00253331 Phase 2, Phase 3 topical organogel with nitroglycerin
18 Measurement and Analysis of Patient Reported Gastrointestinal (GI) and Health-related Quality of Life (HRQL) Outcomes in Patients With Autoimmune Diseases Treated With Mycophenolate (MPA) Completed NCT00351377 Phase 3 Enteric-coated Mycophenolate Sodium
19 A Randomized, Open-Label, Phase II Multicenter Study of High-Dose Immunosuppressive Therapy Using Total Body Irradiation, Cyclophosphamide, ATGAM, and Autologous Transplantation With Auto-CD34+HPC Versus Intravenous Pulse Cyclophosphamide for the Treatment of Severe Systemic Sclerosis (SCSSc-01) Completed NCT00114530 Phase 2, Phase 3 cyclophosphamide
20 A Phase 3, Multicenter, Randomized, Double Blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Subcutaneous LY2127399 in Participants With Systemic Lupus Erythematosus (SLE) Completed NCT01196091 Phase 3 LY2127399;Placebo every 2 weeks;Placebo every 4 weeks;Standard of Care
21 A Placebo-Controlled Trial of Intravenous Immunoglobulin (IVIG) for PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections) Completed NCT01281969 Phase 3 Gamunex Intravenous Immunoglobulin;Placebo
22 A Phase 3, Multicenter, Randomized, Double-blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Subcutaneous LY2127399 in Patients With Systemic Lupus Erythematosus (SLE) Completed NCT01205438 Phase 3 LY2127399;Placebo every 2 weeks;Placebo every 4 weeks
23 Phase III "In-Life" Study of a Topical Gel Formulation of Nitroglycerin, MQX-503, and Matching Placebo Gel in the Treatment and Prevention of Raynaud's Phenomenon Completed NCT00419419 Phase 3 Topical AmphiMatrix with nitroglycerin (MQX-503)
24 Double-Blind, Parallel-group Comparison, Investigators Initiated Phase II Clinical Trial of IDEC-C2B8 (Rituximab) in Patients With Systemic Sclerosis Completed NCT04274257 Phase 2, Phase 3 Double-Blind Placebo;Double-Blind Rituximab
25 Phase 3 Study of Hydroxychloroquine Treatment of Dry Eyes in Patients With Primary Sjögren's Syndrome Completed NCT01601028 Phase 3 Hydroxychloroquine;Placebo
26 A Randomized, Double-Blind, Placebo-Controlled, Multicenter Safety and Efficacy Trial of LJP 394 in Systemic Lupus Erythematosus (SLE) Patients With a History of Renal Disease Completed NCT00035308 Phase 3 Abetimus sodium (LJP 394)
27 Childhood Onset Psychiatric Disorders: A Placebo Controlled Double-Blind Crossover Trial of Intravenous Immunoglobulin (IVIg) Completed NCT00001768 Phase 3 Intravenous immunoglobulin
28 A Golimumab Phase 3b, Multicenter, Switch Assessment of Subcutaneous and Intravenous Efficacy in Rheumatoid Arthritis Patients Who Have Inadequate Disease Control Despite Treatment With Etanercept (ENBREL) or Adalimumab (HUMIRA) Completed NCT01004432 Phase 3 Golimumab 50 mg SC;Golimumab 2 mg/kg IV;Methotrexate (MTX);Placebo SC;Placebo IV
29 Evaluation of Therapeutic Plasma Exchange (TPE) Procedure Using the AMICUS Device Completed NCT01210716 Phase 3
30 An Open-label, Non-controlled, Multicentre Clinical Trial of Inhaled Molgramostim in Autoimmune Pulmonary Alveolar Proteinosis Patients Completed NCT03482752 Phase 3 Molgramostim
31 Effect of One-week vs Two-week Discontinuation of Methotrexate on Efficacy of Seasonal Influenza Vaccination in Patients With Rheumatoid Arthritis: A Randomized Clinical Trial Recruiting NCT05069714 Phase 3 MTX-hold
32 A Phase III, Randomized, Double-blind, Placebo-controlled, Multicenter Trial to Evaluate the Efficacy and Safety of Diamyd® to Preserve Endogenous Beta Cell Function in Adolescents and Adults With Recently Diagnosed Type 1 Diabetes, Carrying the Genetic HLA DR3-DQ2 Haplotype Recruiting NCT05018585 Phase 3
33 A Randomized, Double-blind, Placebo-controlled Clinical Trial of Once-daily Inhaled Molgramostim Nebulizer Solution in Adult Subjects With Autoimmune Pulmonary Alveolar Proteinosis (aPAP) Recruiting NCT04544293 Phase 3 Molgramostim;Placebo
34 COVID-19 Vaccine in Immunosuppressed Adults With Autoimmune Diseases Active, not recruiting NCT04806113 Phase 3
35 A Phase 3b, Multicenter, Open-Label Study to Evaluate the Long-Term Safety and Efficacy of Subcutaneous LY2127399 in Participants With Systemic Lupus Erythematosus (SLE) (Illuminate-X) Terminated NCT01488708 Phase 3 LY2127399;Placebo
36 A Randomized Trial of Treatment in Patients With IgG4-Related Disease Unknown status NCT02458196 Phase 2 Prednisone;Prednisone and Mycophenolate mofetil
37 Phase I/II Open-Label Monocentric Clinical Trial for Induction of Tolerance With CD34-Enriched Autologous Hematopoietic Stem Cell Transplantation After High-Dose Chemotherapy With Cyclophosphamide and Rabbit-Antithymocyte Globulin for Refractory Autoimmune Diseases Unknown status NCT00742300 Phase 1, Phase 2
38 Phase 1 Clinical Trial Using Regulatory T Cells as Individualized Medicine to Evaluate the Safety and Efficacy in Autoimmune Hepatitis Unknown status NCT02704338 Phase 1, Phase 2
39 A Phase 2 Randomized, Double-blind, Placebo-controlled Study in HLA-DQ2.5+ Adults With Celiac Disease to Assess the Effect of Nexvax2 on Symptoms After Masked Gluten Food Challenge Unknown status NCT03644069 Phase 2
40 Efficacy and Safety of Levamisole Combined With Standard Prednisolone in Warm Antibody Autoimmune Hemolytic Anemia. Unknown status NCT01579110 Phase 2 levamisole;Prednisone
41 A Prospective Study of Inhaling Granulocyte-macrophage Colony Stimulating Factor in Adult Patients With Mild-to-moderate Autoimmune Pulmonary Alveolar Proteinosis in China: a Randomized Open-label Study Unknown status NCT02243228 Phase 2 GM-CSF
42 Targeting Multiple Sclerosis as an Autoimmune Disease With Intensive Immunoablative Therapy and Immunological Reconstitution: A Potential Curative Therapy for Patients With a Predicted Poor Prognosis Completed NCT01099930 Phase 2
43 A Phase II Randomized, Placebo-Controlled Clinical Trial to Study the Safety and Immunogenicity of V212 in Adult Patients With Autoimmune Disease Completed NCT01527383 Phase 2
44 Phase II Dose Response Study of a Topical Gel Formulation of Nitroglycerin, MQX-503, in the Treatment of Raynaud's Phenomenon Completed NCT00378521 Phase 2 MQX-503
45 A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Multiple Ascending Dose Study (Induction Therapy) & Long-term Extension Therapy of an Anti-OX40 Monoclonal Antibody (KHK4083) in Subjects With Moderately Active UC Completed NCT02647866 Phase 2 KHK4083;Placebo
46 The Use of Anti-CD4 mAb-Fragment for the Imaging of Chronic Inflammation in Patients With Active Rheumatoid Arthritis (an Open Proof of Concept Study) Completed NCT00372177 Phase 1, Phase 2
47 Multicenter Clinical Trial Phase I / II Randomized, Placebo-controlled Study to Evaluate Safety and Feasibility of Therapy With Two Different Doses of Autologous Mesenchymal Stem Cells in Patients With Secondary Progressive Multiple Sclerosis Who do Not Respond to Treatment Completed NCT01056471 Phase 1, Phase 2
48 The Use of Riboflavin/Ultraviolet A Cross-linked Human Donor Corneas as Carriers for the Boston Keratoprosthesis Completed NCT01582880 Phase 1, Phase 2 Riboflavin
49 A Phase 2 Double-Blind, Placebo Controlled Multi-Center Study to Evaluate the Efficacy and Safety of Tcelna in Subjects With Secondary Progressive Multiple Sclerosis Completed NCT01684761 Phase 2
50 Expanded-access for the Use of Setmelanotide in a Single Patient With Partial Lipodystrophy (LD) Associated With Leptin Deficiency and Multiple Autoimmune Diseases Completed NCT03262610 Phase 2 Setmelanotide

Search NIH Clinical Center for Autoimmune Disease

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Methylprednisolone
methylprednisolone acetate
Methylprednisolone Sodium Succinate
Prednisone
PREDNISONE PWDR

Cochrane evidence based reviews: autoimmune diseases

Genetic Tests for Autoimmune Disease

Genetic tests related to Autoimmune Disease:

# Genetic test Affiliating Genes
1 Autoimmune Disease 28

Anatomical Context for Autoimmune Disease

Organs/tissues related to Autoimmune Disease:

MalaCards : T Cells, Bone Marrow, Skin, Pancreas, Liver, B Cells, Thyroid

Publications for Autoimmune Disease

Articles related to Autoimmune Disease:

(show top 50) (show all 56663)
# Title Authors PMID Year
1
Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. 62 57
9707586 1998
2
Classification of experimental data for genetic analysis in autoimmune disease. 62 57
3337106 1988
3
Evidence that autoimmunity in man is a Mendelian dominant trait. 62 57
3098096 1986
4
Primary Sjögren's syndrome and other autoimmune diseases in families. Prevalence and immunogenetic studies in six kindreds. 62 57
6437309 1984
5
Genetic factors predisposing to autoimmune diseases. Autoimmune hemolytic anemia, chronic thrombocytopenic purpura, and systemic lupus erythematosus. 62 57
6756137 1982
6
H gene theory of inherited autoimmune disease. 62 57
6101848 1980
7
Analysis of T cell repertoires of CD45RO CD4 T cells in cohorts of patients with bullous pemphigoid: A pilot study. 62 41
36458004 2022
8
Pediatric and adult forms of type I autoimmune hepatitis in Argentina: evidence for differential genetic predisposition. 57
10573514 1999
9
Mapping the major susceptibility loci for familial Graves' and Hashimoto's diseases: evidence for genetic heterogeneity and gene interactions. 57
10599734 1999
10
Familial polyarteritis nodosa. 57
7914412 1994
11
On genetic components in autoimmunity: a critical review based on evolutionarily oriented rationality. 57
1483686 1992
12
Familial polyarteritis nodosa: a serologic and immunogenetic analysis. 57
2568486 1989
13
Evidence that autoimmunity in man is a Mendelian dominant trait. 57
3337107 1988
14
Inherited susceptibility to autoimmune Addison's disease is linked to human leukocyte antigens-DR3 and/or DR4, except when associated with type I autoimmune polyglandular syndrome. 57
3484749 1986
15
[Familial autoimmune pathology comprising 2 cases of primary biliary cirrhosis]. 57
6578990 1983
16
Hereditary autoimmune thrombocytopenic purpura: an immunologic and genetic study. 57
7195175 1981
17
The genetic lesions of autoimmunity. 57
6769621 1980
18
Hereditary aspects of autoimmune hemolytic anemia; a retrospective analysis. 57
5660845 1968
19
MYASTHENIA GRAVIS AND HYPERTHYROIDISM IN TWO SISTERS. 57
14158527 1964
20
The dichotomous outcomes of TNFα signaling in CD4+ T cells. 41
36466853 2022
21
Integrative metabolic analysis of orbital adipose/connective tissue in patients with thyroid-associated ophthalmopathy. 41
36465658 2022
22
A biochemical and genetic study on all non-synonymous single nucleotide polymorphisms of the gene encoding human deoxyribonuclease I potentially relevant to autoimmunity. 53 62
20417303 2010
23
Allele and haplotype frequency distribution in PTPN22 gene across variable ethnic groups: Implications for genetic association studies for autoimmune diseases. 53 62
20166877 2010
24
IL-9: basic biology, signaling pathways in CD4+ T cells and implications for autoimmunity. 53 62
20020328 2010
25
Targeting SDF-1/CXCL12 with a ligand that prevents activation of CXCR4 through structure-based drug design. 53 62
20459090 2010
26
Retinoic acid-inducible gene-I (RIG-I) is induced by IFN-{gamma} in human mesangial cells in culture: possible involvement of RIG-I in the inflammation in lupus nephritis. 53 62
20167631 2010
27
Functional signaling of membrane-bound TL1A induces IFN-gamma expression. 53 62
20403353 2010
28
HLA and CTLA4 polymorphisms may confer a synergistic risk in the susceptibility to Graves' disease. 53 62
20300120 2010
29
High levels of B cell activating factor during the peritransplantation period are associated with a reduced incidence of acute graft-versus-host disease following myeloablative allogeneic stem cell transplantation. 53 62
19963070 2010
30
Toll-like receptor 2 signaling in CD4(+) T lymphocytes promotes T helper 17 responses and regulates the pathogenesis of autoimmune disease. 53 62
20434372 2010
31
The cytokine milieu in the interplay of pathogenic Th1/Th17 cells and regulatory T cells in autoimmune disease. 53 62
20383174 2010
32
The ROQUIN family of proteins localizes to stress granules via the ROQ domain and binds target mRNAs. 53 62
20412057 2010
33
Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap. 53 62
20479942 2010
34
Expression of IFNalpha-inducible genes and modulation of HLA-DR and thyroid stimulating hormone receptors in Graves' disease. 53 62
20015465 2010
35
The +49A>G CTLA-4 polymorphism is associated with rheumatoid arthritis in Mexican population. 53 62
20138855 2010
36
STAT4 gene influences genetic predisposition to ulcerative colitis but not Crohn's disease in the Spanish population: a replication study. 53 62
20153791 2010
37
ST2: a novel biomarker for heart failure. 53 62
20465500 2010
38
Interleukin-17 and its expanding biological functions. 53 62
20383173 2010
39
Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy. 53 62
19863576 2010
40
IL-21 regulates Th17 cells in rheumatoid arthritis. 53 62
20079789 2010
41
The interferon-inducible HIN-200 gene family in apoptosis and inflammation: implication for autoimmunity. 53 62
20187706 2010
42
Immunoglobulin heavy chain variable region genes contribute to the induction of thyroid-stimulating antibodies in recombinant inbred mice. 53 62
20407472 2010
43
Sequential intramolecular epitope spreading of humoral responses to human BPAG2 in a transgenic model. 53 62
19812601 2010
44
Type I interferon therapy and its role in autoimmunity. 53 62
20298125 2010
45
99th Dahlem conference on infection, inflammation and chronic inflammatory disorders: immune therapies of type 1 diabetes: new opportunities based on the hygiene hypothesis. 53 62
20415859 2010
46
Critical appraisal of tocilizumab in the treatment of moderate to severe rheumatoid arthritis. 53 62
20421913 2010
47
Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset. 53 62
20454450 2010
48
Association of signal transducer and activator of transcription 4 genetic variants with extra-intestinal manifestations in inflammatory bowel disease. 53 62
20176035 2010
49
In vivo modulation of the expressions of Fas and CD25 by intravenous immunoglobulin in common variable immunodeficiency. 53 62
19730984 2010
50
Assessment of alveolar epithelial permeability with Tc-99m DTPA aerosol scintigraphy in patients with Sjogren syndrome. 53 62
19582462 2010

Variations for Autoimmune Disease

Copy number variations for Autoimmune Disease from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 208909 6 211050653 211252076 Copy number CYP21A2 Autoimmune disease
2 21796 1 161592989 161601158 Deletion FCGR3B Autoimmune disease
3 21792 1 161592989 161601158 Copy number FCGR3B Autoimmune disease
4 21625 1 159859611 159867782 Copy number FCGR3B Autoimmune disease
5 211046 6 3197570 32111174 Copy number C4B Autoimmune disease
6 211044 6 3197570 32111174 Copy number C4A Autoimmune disease
7 210509 6 30400000 36600000 Copy number TNXA Autoimmune disease
8 210508 6 30400000 36600000 Copy number CYP21A1P Autoimmune disease

Expression for Autoimmune Disease

Search GEO for disease gene expression data for Autoimmune Disease.

Pathways for Autoimmune Disease



Pathways directly related to Autoimmune Disease:

# Pathway Source
1 Defective Base Excision Repair Associated with NEIL3 Reactome 66

Pathways related to Autoimmune Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 TNFSF13B TNF STAT3 PTPN22 ITCH IL6
2
Show member pathways
13.62 TNFSF13B TNF STAT3 IL6 IL2 IL17A
3
Show member pathways
13.55 TNFSF13B TNF STAT3 IL6 IL2 IL17A
4
Show member pathways
13.4 TNFSF13B TNF STAT3 IL6 IL2 IL17A
5
Show member pathways
13.37 TNFSF13B TNF STAT3 IL6 IL2 IL17A
6
Show member pathways
13.31 TNFSF13B TNF PTPN22 IL6 IL2 IL17A
7
Show member pathways
12.69 TNF STAT3 IL6 IL2 IL17A IL10
8
Show member pathways
12.64 TNF STAT3 IL6 IL2 IL17A IL10
9
Show member pathways
12.29 IL17A IL6 STAT3 TNF
10 12.21 TNF STAT3 IL6 IFNG
11 12.18 TNF STAT3 IL6 IL10 IFNG
12
Show member pathways
12.17 CTLA4 IFNG IL10 IL17A IL2 TNF
13 12.08 TNF IL6 IL2 IL10 IFNG
14 12.07 TNFSF13B TNF IL6 IL2 IFNG
15
Show member pathways
12.06 STAT3 IL2 IFNG FOXP3
16 12.04 TNF STAT3 IL6 IL17A IL10
17
Show member pathways
12.01 STAT3 IL2 IFNG HLA-A
18
Show member pathways
11.92 FOXP3 IL17A IL6 STAT3
19
Show member pathways
11.91 STAT3 IL6 IL17A IFNG
20 11.88 STAT3 IL6 IL10
21 11.88 IFNG IL10 IL17A IL2 TNF
22 11.88 TNFSF13B TNF STAT3 PTPN22 ITCH IL2
23
Show member pathways
11.87 IFNG IL10 IL17A IL2 IL6 STAT3
24 11.83 STAT3 IL6 IL2 IL10 IFNG
25 11.81 TNF IL6 IL2 IL10 IFNG
26 11.79 TNF IL6 IL2 IL10 IFNG
27 11.77 IL6 IL2 IFNG
28 11.76 IL6 IL2 IL10 IFNG HLA-A
29
Show member pathways
11.74 TNF IL6 IL2 IFNG
30 11.72 STAT3 IL6 IL2 IL17A IFNG FOXP3
31 11.69 TNFSF13B TNF STAT3 IL6 IL10
32 11.67 TNF IL6 IL10
33
Show member pathways
11.67 TNF ITCH IL2 IFNG FOXP3 CTLA4
34 11.61 IL6 IL2 IFNG
35 11.6 TNF STAT3 IL6 IL10
36 11.59 FOXP3 IFNG IL10 IL2
37 11.58 TNF IL6 IFNG
38 11.58 TNF IL2 IL10 IFNG
39 11.53 TNF ITCH IL6
40 11.53 TNF IL2 IL17A IL10 IFNG HLA-A
41 11.51 TNF IL6 IFNG
42
Show member pathways
11.47 TNF STAT3 IL6 IL2 IL10 IFNG
43 11.44 TNF STAT3 IL6 IL10
44
Show member pathways
11.41 TNF IL2 IL10 IFNG FOXP3
45 11.4 TNF IL6 IL17A IFNG
46 11.29 TNF IL6 IL17A
47 11.29 TNF IL6 IL2 IL10 IFNG
48 11.27 STAT3 IL2 IFNG
49 11.25 IL2 IL10 IFNG
50 11.17 TNF IL6 IL2 IL17A IL10 IFNG

GO Terms for Autoimmune Disease

Biological processes related to Autoimmune Disease according to GeneCards Suite gene sharing:

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.41 TNF STAT3 PTPN22 IL6 IFNG FOXP3
2 defense response to Gram-positive bacterium GO:0050830 10.24 TNF IL6 IL17A HLA-A
3 response to virus GO:0009615 10.23 TNF IFNG FOXP3 ENO1
4 negative regulation of gene expression GO:0010629 10.22 FOXP3 IFNG PTPN22 STAT3 TNF ZFAT-AS1
5 T cell receptor signaling pathway GO:0050852 10.21 PTPN22 HLA-A FOXP3 CTLA4
6 positive regulation of tumor necrosis factor production GO:0032760 10.21 STAT3 IL6 IL17A IFNG
7 inflammatory response GO:0006954 10.18 FOXP3 GAS5 IL17A IL6 ITCH STAT3
8 regulation of insulin secretion GO:0050796 10.14 TNF IL6 IFNG
9 response to activity GO:0014823 10.14 TNF IL6 IL10
10 negative regulation of T cell proliferation GO:0042130 10.13 CTLA4 FOXP3 IL10
11 positive regulation of type II interferon production GO:0032729 10.11 TNF PTPN22 IL2 HLA-A
12 positive regulation of receptor signaling pathway via JAK-STAT GO:0046427 10.1 IL10 IL6 TNF
13 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 10.1 TNF IL6 IL2 IFNG
14 liver regeneration GO:0097421 10.08 IL10 IL6 TNF
15 positive regulation of immunoglobulin production GO:0002639 10.03 IL6 IL2 IL10
16 negative regulation of interleukin-6 production GO:0032715 10.03 TNF PTPN22 IL10 FOXP3
17 positive regulation of osteoclast differentiation GO:0045672 10.02 IFNG IL17A TNF
18 humoral immune response GO:0006959 10.01 TNF IL6 IFNG AIRE
19 immune system process GO:0002376 10 TNFSF13B PTPN22 ITCH IL2 IL17A HLA-A
20 T cell proliferation GO:0042098 9.96 FOXP3 IL2 TNFSF13B
21 positive regulation of interleukin-6 production GO:0032755 9.96 TNF STAT3 IL6 IL17A IFNG
22 negative regulation of cytokine production involved in immune response GO:0002719 9.95 TNF IL10
23 positive regulation of T cell anergy GO:0002669 9.94 ITCH FOXP3
24 positive regulation of CD8-positive, alpha-beta T cell proliferation GO:2000566 9.92 PTPN22 HLA-A
25 T cell anergy GO:0002870 9.92 ITCH FOXP3
26 positive regulation of chemokine production GO:0032722 9.92 TNF IL6 IFNG AIRE
27 negative regulation of primary miRNA processing GO:2000635 9.89 STAT3 IL6
28 positive regulation of plasma cell differentiation GO:1900100 9.88 IL2 IL10
29 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.88 TNF IFNG
30 positive regulation of nitrogen compound metabolic process GO:0051173 9.87 TNF IFNG
31 positive regulation of vitamin D biosynthetic process GO:0060557 9.84 TNF IFNG
32 negative regulation of lymphocyte proliferation GO:0050672 9.83 IL2 FOXP3
33 chronic inflammatory response to antigenic stimulus GO:0002439 9.83 TNF IL10
34 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.76 IL17A IL6 STAT3 TNF
35 positive regulation of interleukin-1 beta production GO:0032731 9.65 TNF STAT3 IL6 IL17A IFNG
36 immune response GO:0006955 9.5 TNFSF13B TNF IL6 IL2 IL17A IL10

Molecular functions related to Autoimmune Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.47 TNFSF13B TNF IL6 IL2 IL17A IL10

Sources for Autoimmune Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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