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MCID: ATM095
MIFTS: 61

Autoimmune Disease

Categories: Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Autoimmune Disease

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MalaCards integrated aliases for Autoimmune Disease:

Name: Autoimmune Disease 57 12 29 15 17
Autoimmune Diseases 54 42 15 71
Hypersensitivity Reaction Type Ii Disease 12
Type Ii Hypersensitivity Reaction Disease 17
Autoimmune Hypersensitivity Disease 12
Autoimmune Disorder 6

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant gene epistatic to other secondary genes conferring specificity to the autoimmune phenotype


HPO:

31
autoimmune disease:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Anatomical: Immune diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:417
OMIM® 57 109100
ICD9CM 34 720
MedGen 41 C0004364
SNOMED-CT via HPO 68 263681008
UMLS 71 C0003089 C0004364
Sources

Summaries for Autoimmune Disease

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MedlinePlus : 42 Your body's immune system protects you from disease and infection. But if you have an autoimmune disease, your immune system attacks healthy cells in your body by mistake. Autoimmune diseases can affect many parts of the body. No one is sure what causes autoimmune diseases. They do tend to run in families. Women - particularly African American, Hispanic American, and Native American women - have a higher risk for some autoimmune diseases. There are more than 80 types of autoimmune diseases, and some have similar symptoms. This makes it hard for your health care provider to know if you really have one of these diseases, and if so, which one. Getting a diagnosis can be frustrating and stressful. Often, the first symptoms are fatigue, muscle aches and a low fever. The classic sign of an autoimmune disease is inflammation, which can cause redness, heat, pain and swelling. The diseases may also have flare-ups, when they get worse, and remissions, when symptoms get better or disappear. Treatment depends on the disease, but in most cases one important goal is to reduce inflammation. Sometimes doctors prescribe corticosteroids or other drugs that reduce your immune response.

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 GAS5 (Growth Arrest Specific 5), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Ledipasvir and Sofosbuvir have been mentioned in the context of this disorder. Affiliated tissues include t cells, thyroid and b cells, and related phenotypes are autoimmune antibody positivity and hematopoietic system

Disease Ontology : 12 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 : 74 An autoimmune disease is a condition arising from an abnormal immune response to a functioning body... more...

More information from OMIM: 109100
Sources

Related Diseases for Autoimmune Disease

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

(show top 50) (show all 1482)
# Related Disease Score Top Affiliating Genes
1 vitiligo-associated multiple autoimmune disease susceptibility 1 33.6 PTPN22 NLRP1 IL17A CTLA4 AIRE
2 systemic lupus erythematosus 33.2 TNFSF13B TNF STAT3 PTPN22 NLRP1 IL17A
3 autoimmune disease of skin and connective tissue 33.2 TNF PTPN22 NLRP1 IL17A IL10 IFNG
4 autoimmune disease of musculoskeletal system 33.2 TNFSF13B TNF STAT3 PTPN22 IL17A IL10
5 autoimmune disease of endocrine system 33.2 TNF PTPN22 IL17A IL10 IFNG CTLA4
6 autoimmune disease of the nervous system 33.2 TNFSF13B TNF IL17A IL10 IFNG CTLA4
7 autoimmune disease of gastrointestinal tract 33.1 TNF STAT3 IL17A IL10 IFNG CTLA4
8 lupus erythematosus 33.1 TNF PTPN22 NLRP1 IL10 IFNG CTLA4
9 autoimmune disease of blood 33.1 TNFSF13B TNF IL10 CTLA4
10 autoimmune disease of eyes, ear, nose and throat 33.1 TNF IL17A IL10 CTLA4
11 autoimmune disease of exocrine system 33.0 TNFSF13B TNF IL17A IL10
12 rheumatoid arthritis 33.0 TNFSF13B TNF SIAE PTPN22 NLRP1 IL17A
13 autoimmune disease of peripheral nervous system 33.0 TNFSF13B IL17A IL10
14 hashimoto thyroiditis 33.0 PTPN22 IL17A IL10 IFNG ENO1 CTLA4
15 autoimmune disease of cardiovascular system 33.0 TNF IL17A IL10
16 multiple sclerosis 32.9 TNFSF13B TNF STAT3 PTPN22 IL17A IL10
17 celiac disease 1 32.9 TNF STAT3 PTPN22 IL17A IL10 IFNG
18 myasthenia gravis 32.8 TNFSF13B TNF IL10 IFNG CTLA4 AIRE
19 autoimmune disease of central nervous system 32.8 TNF IL17A IL10 IFNG CTLA4
20 alopecia areata 32.8 TNF PTPN22 IL17A IL10 IFNG HLA-A
21 graves' disease 32.8 PTPN22 IFNG HLA-A CTLA4 AIRE
22 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 32.8 TNFSF13B PTPN22 IL17A IL10 IFNG CTLA4
23 autoimmune hepatitis 32.8 TNF IL17A IL10 HLA-A CTLA4 AIRE
24 systemic autoimmune disease 32.7 IL17A AIRE
25 type 1 diabetes mellitus 32.7 TNF PTPN22 IL17A IL10 IFNG HLA-A
26 diabetes mellitus 32.7 TNF STAT3 PTPN22 IL17A IL10 IFNG
27 vogt-koyanagi-harada disease 32.7 PTPN22 NLRP1 IL17A IL10 IFNG HLA-A
28 mixed connective tissue disease 32.7 TNFSF13B TNF IL10 IFNG
29 psoriasis 32.7 TNF STAT3 PTPN22 IL17A IL10 IFNG
30 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 32.6 IL17A IL10 CTLA4 AIRE
31 granulomatosis with polyangiitis 32.6 TNFSF13B TNF PTPN22 CTLA4
32 common variable immunodeficiency 32.6 ZAP70 TNFSF13B TNF STAT3 IL10 IFNG
33 sjogren syndrome 32.6 TNFSF13B SIAE IL10
34 autoimmune pancreatitis 32.5 TNFSF13B TNF IL17A IL10 ENO1 CTLA4
35 primary biliary cholangitis 32.5 PTPN22 ENO1 CTLA4 AIRE
36 autoimmune gastritis 32.5 TNF IL10 IFNG HLA-A
37 juvenile rheumatoid arthritis 32.5 TNF IL10 IFNG CTLA4
38 behcet syndrome 32.5 TNFSF13B TNF PTPN22 IL17A IL10 IFNG
39 autoimmune uveitis 32.5 TNF IL17A IL10 IFNG
40 exanthem 32.5 TNF IL10 IFNG CTLA4
41 autoimmune myocarditis 32.5 TNF IFNG
42 familial mediterranean fever 32.4 TNF NLRP1 IL17A IL10 HLA-A
43 anemia, autoimmune hemolytic 32.4 ZAP70 TNFSF13B CTLA4
44 spinal cord disease 32.4 TNFSF13B TNF IL17A IL10
45 pemphigus 32.3 TNFSF13B TNF IL10
46 reactive arthritis 32.3 TNF IL17A IL10 IFNG
47 chronic inflammatory demyelinating polyradiculoneuropathy 32.3 IL17A IL10 IFNG
48 melioidosis 32.3 TNF IL10 IFNG
49 autoimmune retinopathy 32.3 ENO1 AIRE
50 thyroiditis 32.3 TNF PTPN22 IL17A IL10 IFNG CTLA4

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



Diseases related to Autoimmune Disease
Sources

Symptoms & Phenotypes for Autoimmune Disease

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Human phenotypes related to Autoimmune Disease:

31
# Description HPO Frequency HPO Source Accession
1 autoimmune antibody positivity 31 HP:0030057

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Immunology:
autoimmune disease

Lab:
high titer autoantibody

Clinical features from OMIM®:

109100 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Autoimmune Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.17 AIRE CTLA4 HLA-A IFNG IL10 IL17A
2 endocrine/exocrine gland MP:0005379 10.11 AIRE CTLA4 HLA-A IFNG IL10 IL17A
3 immune system MP:0005387 10.1 AIRE CTLA4 HLA-A IFNG IL10 IL17A
4 digestive/alimentary MP:0005381 10.06 AIRE CTLA4 IFNG IL10 IL17A ITCH
5 liver/biliary system MP:0005370 9.76 AIRE CTLA4 IFNG IL10 ITCH PTPN22
6 no phenotypic analysis MP:0003012 9.5 AIRE HLA-A IFNG IL10 IL17A SIAE
7 respiratory system MP:0005388 9.32 AIRE CTLA4 IFNG IL10 IL17A ITCH
Sources

Drugs & Therapeutics for Autoimmune Disease

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

(show top 50) (show all 289)
# 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
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
6
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
9
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
10
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
11
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
12
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
13
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
14
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 134070 5280453
15
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
16 Immunoglobulins, Intravenous Phase 4
17 Immunoglobulin A Phase 4
18 Vasoconstrictor Agents Phase 4
19 Vaccines Phase 4
20 Methylprednisolone Acetate Phase 4
21 Neuroprotective Agents Phase 4
22 Antiemetics Phase 4
23 Analgesics, Non-Narcotic Phase 4
24 Anti-Inflammatory Agents, Non-Steroidal Phase 4
25 Analgesics Phase 4
26 Complement System Proteins Phase 4
27 Angiogenesis Inhibitors Phase 4
28 Complement C3 Phase 4
29 Cyclooxygenase Inhibitors Phase 4
30 methicillin Phase 4
31 Cephalosporins Phase 4
32
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
33
Tofacitinib Approved, Investigational Phase 3 477600-75-2
34
Nitroglycerin Approved, Investigational Phase 2, Phase 3 55-63-0 4510
35
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
36
Interferon beta-1a Approved, Investigational Phase 3 145258-61-3 6438354
37
rituximab Approved Phase 2, Phase 3 174722-31-7 10201696
38
Etanercept Approved, Investigational Phase 3 185243-69-0
39
Infliximab Approved Phase 3 170277-31-3
40
Adalimumab Approved, Experimental Phase 3 331731-18-1 16219006
41
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239 406563
42
ofatumumab Approved Phase 3 679818-59-8 6918251
43
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
44
tannic acid Approved Phase 3 1401-55-4
45
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
46
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
47
Abetimus Investigational Phase 3 167362-48-3
48 Molgramostim Investigational Phase 3 99283-10-0
49 Immunosuppressive Agents Phase 3
50 Dermatologic Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 338)
# Name Status NCT ID Phase Drugs
1 Rituximab (RTX) Therapy in Steroid Resistant Patients or Patients Relapsing After Intravenous Steroids With Active TAO Unknown status NCT02378298 Phase 4 Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
2 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
3 Calcitriol in the Treatment of Immunoglobulin A Nephropathy Unknown status NCT00862693 Phase 4 Calcitriol
4 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
5 Everolimus in Association With Very Low-dose Tacrolimus Versus Enteric-coated Mycophenolate Sodium With Low-dose Tacrolimus in de Novo Renal Transplant Recipients - A Prospective Single Center Study Completed NCT02084446 Phase 4 Everolimus;Very Low Tacrolimus;Low Tacrolimus;Steroids;Thymoglobulin;Sodium Mycophenolate
6 Study Evaluating Rapid Infusion Rituximab in Patients With Autoimmune Diseases Completed NCT02040116 Phase 4 Rituximab Infusion
7 A Placebo Controlled Trial of Amoxicillin for Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections Completed NCT00001658 Phase 4 Amoxicillin
8 Influence of Plasma Exchange Therapy on the Pharmacokinetics of Rituximab in Patients Treated for Autoimmune Disorders. Completed NCT00820469 Phase 4 Rituximab 375;rituximab 1000
9 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Completed NCT00815282 Phase 4
10 A Pilot Study of Mitoxantrone for the Treatment of Recurrent Neuromyelitis Optica (Devic's Disease) Completed NCT00304291 Phase 4 Mitoxantrone
11 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 Recruiting NCT03122431 Phase 4 Thalidomide;Hydroxychloroquine reduced;Hydroxychloroquine high
12 Patient-Reported AutoImmunity Secondary to Cancer immunothErapy Recruiting NCT03849131 Phase 4
13 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
14 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
15 Antibiotic Prophylaxis in High-Risk Arthroplasty Patients Not yet recruiting NCT04297592 Phase 4 Cephalexin Oral Tablet;Doxycycline Hyclate
16 Exploring the Effects of IL-23 Inhibition by Risankizumab on Psoriasis Autoimmunity Not yet recruiting NCT04722640 Phase 4 SKYRIZI
17 Hydroxychloroquine in SARS-CoV-2 (COVID-19) Pneumonia Trial Withdrawn NCT04382625 Phase 4 Hydroxychloroquine
18 Prospective, Double-blind, Randomised, Placebo-controlled, Cross-over Study to Investigate the Effect of Intravenous Immunoglobulins on Complex Regional Pain Syndrome (CRPS, M. Sudeck) Unknown status NCT00949065 Phase 3
19 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
20 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
21 Six Month Clinical Research Study for Patients With Moderate or Severe Dry Eye Syndrome Completed NCT00025818 Phase 3 Ophthalmic Emulsion
22 Phase 3 Randomized, Double-blind Study Of The Efficacy And Safety Of 2 Doses Of Cp-690,550 Compared To Methotrexate In Methotrexate Navie Patients With Rheumatoid Arthritis Completed NCT01039688 Phase 3 CP-690,550;CP-690,550;Disease-modifying antirheumatic drug
23 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
24 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
25 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
26 A Multi-Center, Double-Blind, Randomized Study Comparing the Combined Use of Interferon Beta-1a and Glatiramer Acetate to Either Agent Alone in Patients With Relapsing-Remitting Multiple Sclerosis (CombiRx) Completed NCT00211887 Phase 3 Interferon beta 1-a;glatiramer acetate
27 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
28 Childhood Onset Psychiatric Disorders: A Placebo Controlled Double-Blind Crossover Trial of Intravenous Immunoglobulin (IVIg) Completed NCT00001768 Phase 3 Intravenous immunoglobulin
29 Evaluation of Therapeutic Plasma Exchange (TPE) Procedure Using the AMICUS Device Completed NCT01210716 Phase 3
30 Phase 3 Study of Hydroxychloroquine Treatment of Dry Eyes in Patients With Primary Sjögren's Syndrome Completed NCT01601028 Phase 3 Hydroxychloroquine;Placebo
31 Immunogenicity and Duration of Immunity in Immunosuppressed Children Vaccinated With Quadrivalent HPV Vaccine Completed NCT02263703 Phase 3
32 A Randomised, Double-Blind, Placebo-Controlled Multicentre Clinical Trial of Inhaled Molgramostim in Autoimmune Pulmonary AlveoLAr Proteinosis Patients "IMPALA" Completed NCT02702180 Phase 2, Phase 3 molgramostim;placebo
33 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)
34 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
35 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
36 An Open-label, Non-controlled, Multicentre Clinical Trial of Inhaled Molgramostim in Autoimmune Pulmonary Alveolar Proteinosis Patients Completed NCT03482752 Phase 3 Molgramostim
37 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)
38 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
39 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
40 Study on Combined Immunotherapy and Targeted Therapy for Advanced Liver Cancer Recruiting NCT04163237 Phase 3 PD-1;Sorafenib
41 A Randomized, Double-blind, Placebo-controlled Clinical Trial of Once-daily Inhaled Molgramostim Nebulizer Solution in Adult Subjects With Autoimmune Pulmonary Alveolar Proteinosis (aPAP) Not yet recruiting NCT04544293 Phase 3 Molgramostim;Placebo
42 OPV116910: A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Investigate the Efficacy and Safety of Ofatumumab Injection for Subcutaneous Use in Subjects With Pemphigus Vulgaris Terminated NCT01920477 Phase 3
43 Autologous Hematopoietic Stem Cell Transplant for Patients With Systemic Sclerosis and Cardiac Dysfunction Terminated NCT03593902 Phase 2, Phase 3 Rituximab;Fludarabine;Cyclophosphamide;Mesna;rATG;Methylprednisolone;G-CSF
44 Will Hydroxychloroquine Impede or Prevent COVID-19: WHIP COVID-19 Study Terminated NCT04341441 Phase 3 Hydroxychloroquine - Daily Dosing;Hydroxychloroquine - Weekly Dosing
45 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
46 Autologous Hematopoietic Stem Cell Transplant for Neuromyelitis Optica Spectrum Disorder (NMOSD) Withdrawn NCT03829566 Phase 2, Phase 3 Rituximab;Cyclophosphamide;Mesna;rATG;Methylprednisolone;G-CSF
47 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
48 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
49 A Randomized Trial of Treatment in Patients With IgG4-Related Disease Unknown status NCT02458196 Phase 2 Prednisone;Prednisone and Mycophenolate mofetil
50 Mesenchymal Stem Cell Therapy for the Treatment of Severe or Refractory Inflammatory and/or Autoimmune Disorders Unknown status NCT01540292 Phase 1, Phase 2

Search NIH Clinical Center for Autoimmune Disease

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Methylprednisolone
methylprednisolone acetate
Methylprednisolone Sodium Succinate
Prednisone
PREDNISONE PWDR
Sources

Genetic Tests for Autoimmune Disease

About this section

Genetic tests related to Autoimmune Disease:

# Genetic test Affiliating Genes
1 Autoimmune Disease 29
Sources

Anatomical Context for Autoimmune Disease

About this section

MalaCards organs/tissues related to Autoimmune Disease:

40
T Cells, Thyroid, B Cells, Bone, Liver, Skin, Lung
Sources

Publications for Autoimmune Disease

About this section

Articles related to Autoimmune Disease:

(show top 50) (show all 56188)
# Title Authors PMID Year
1
Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. 57 61
9707586 1998
2
Classification of experimental data for genetic analysis in autoimmune disease. 61 57
3337106 1988
3
Evidence that autoimmunity in man is a Mendelian dominant trait. 57 61
3098096 1986
4
Primary Sjögren's syndrome and other autoimmune diseases in families. Prevalence and immunogenetic studies in six kindreds. 61 57
6437309 1984
5
Genetic factors predisposing to autoimmune diseases. Autoimmune hemolytic anemia, chronic thrombocytopenic purpura, and systemic lupus erythematosus. 57 61
6756137 1982
6
H gene theory of inherited autoimmune disease. 57 61
6101848 1980
7
Neutrophil Extracellular Traps and Their Implications in Cardiovascular and Inflammatory Disease. 42 61
33429925 2021
8
Host Genetics at the Intersection of Autoimmunity and COVID-19: A Potential Key for Heterogeneous COVID-19 Severity. 42 61
33414783 2020
9
Mapping the major susceptibility loci for familial Graves' and Hashimoto's diseases: evidence for genetic heterogeneity and gene interactions. 57
10599734 1999
10
Pediatric and adult forms of type I autoimmune hepatitis in Argentina: evidence for differential genetic predisposition. 57
10573514 1999
11
Familial polyarteritis nodosa. 57
7914412 1994
12
On genetic components in autoimmunity: a critical review based on evolutionarily oriented rationality. 57
1483686 1992
13
Familial polyarteritis nodosa: a serologic and immunogenetic analysis. 57
2568486 1989
14
Evidence that autoimmunity in man is a Mendelian dominant trait. 57
3337107 1988
15
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
16
[Familial autoimmune pathology comprising 2 cases of primary biliary cirrhosis]. 57
6578990 1983
17
Hereditary autoimmune thrombocytopenic purpura: an immunologic and genetic study. 57
7195175 1981
18
The genetic lesions of autoimmunity. 57
6769621 1980
19
Hereditary aspects of autoimmune hemolytic anemia; a retrospective analysis. 57
5660845 1968
20
MYASTHENIA GRAVIS AND HYPERTHYROIDISM IN TWO SISTERS. 57
14158527 1964
21
New Findings on the Pathophysiology of Severe COVID-19 Infections. 42
33497110 2021
22
A biochemical and genetic study on all non-synonymous single nucleotide polymorphisms of the gene encoding human deoxyribonuclease I potentially relevant to autoimmunity. 61 54
20417303 2010
23
Allele and haplotype frequency distribution in PTPN22 gene across variable ethnic groups: Implications for genetic association studies for autoimmune diseases. 61 54
20166877 2010
24
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. 61 54
20167631 2010
25
Targeting SDF-1/CXCL12 with a ligand that prevents activation of CXCR4 through structure-based drug design. 54 61
20459090 2010
26
IL-9: basic biology, signaling pathways in CD4+ T cells and implications for autoimmunity. 61 54
20020328 2010
27
Functional signaling of membrane-bound TL1A induces IFN-gamma expression. 61 54
20403353 2010
28
The +49A>G CTLA-4 polymorphism is associated with rheumatoid arthritis in Mexican population. 54 61
20138855 2010
29
Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy. 61 54
19863576 2010
30
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. 54 61
19963070 2010
31
The ROQUIN family of proteins localizes to stress granules via the ROQ domain and binds target mRNAs. 61 54
20412057 2010
32
American Chemical Society-239th national meeting--Investigating new therapeutic candidates: part 2. 21-25 March 2010, San Francisco, CA, USA. 54 61
20432181 2010
33
HLA and CTLA4 polymorphisms may confer a synergistic risk in the susceptibility to Graves' disease. 61 54
20300120 2010
34
Expression of IFNalpha-inducible genes and modulation of HLA-DR and thyroid stimulating hormone receptors in Graves' disease. 54 61
20015465 2010
35
The cytokine milieu in the interplay of pathogenic Th1/Th17 cells and regulatory T cells in autoimmune disease. 61 54
20383174 2010
36
Toll-like receptor 2 signaling in CD4(+) T lymphocytes promotes T helper 17 responses and regulates the pathogenesis of autoimmune disease. 61 54
20434372 2010
37
STAT4 gene influences genetic predisposition to ulcerative colitis but not Crohn's disease in the Spanish population: a replication study. 61 54
20153791 2010
38
Evaluation of 6 candidate genes on chromosome 11q23 for coeliac disease susceptibility: a case control study. 61 54
20478055 2010
39
ST2: a novel biomarker for heart failure. 54 61
20465500 2010
40
Interleukin-17 and its expanding biological functions. 54 61
20383173 2010
41
Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap. 54 61
20479942 2010
42
Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset. 61 54
20454450 2010
43
9-Deazaguanine derivatives connected by a linker to difluoromethylene phosphonic acid are slow-binding picomolar inhibitors of trimeric purine nucleoside phosphorylase. 54 61
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Critical appraisal of tocilizumab in the treatment of moderate to severe rheumatoid arthritis. 61 54
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45
Sequential intramolecular epitope spreading of humoral responses to human BPAG2 in a transgenic model. 54 61
19812601 2010
46
The interferon-inducible HIN-200 gene family in apoptosis and inflammation: implication for autoimmunity. 54 61
20187706 2010
47
Immunoglobulin heavy chain variable region genes contribute to the induction of thyroid-stimulating antibodies in recombinant inbred mice. 54 61
20407472 2010
48
99th Dahlem conference on infection, inflammation and chronic inflammatory disorders: immune therapies of type 1 diabetes: new opportunities based on the hygiene hypothesis. 54 61
20415859 2010
49
Type I interferon therapy and its role in autoimmunity. 61 54
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IL-21 regulates Th17 cells in rheumatoid arthritis. 61 54
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Sources

Variations for Autoimmune Disease

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ClinVar genetic disease variations for Autoimmune Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEL NM_001807.5(CEL):c.1966G>C (p.Ala656Pro) SNV Uncertain significance 128688 rs587780309 9:135946855-135946855 9:133071468-133071468

Copy number variations for Autoimmune Disease from CNVD:

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

Expression for Autoimmune Disease

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Search GEO for disease gene expression data for Autoimmune Disease.
Sources

Pathways for Autoimmune Disease

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

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.93 ZAP70 TNFSF13B TNF STAT3 PTPN22 NLRP1
2
Cytokine Signaling in Immune system 65
Show member pathways
 13.29 TNFSF13B TNF STAT3 IL17A IL10 IFNG
3
Allograft rejection 36 1
Show member pathways
 12.61 TNFSF13B TNF IL17A IL10 IFNG HLA-A
4
Immune response IL-23 signaling pathway 23
Show member pathways
 12.5 TNF STAT3 IL17A IL10 IFNG
5
Th17 cell differentiation 36
Show member pathways
 12.38 ZAP70 TNF STAT3 IL17A IL10 IFNG
6
IL-17 Family Signaling Pathways 64
Show member pathways
 12.25 TNF STAT3 IL17A IFNG
7
T cell receptor signaling pathway 36
Show member pathways
 12.24 ZAP70 TNF STAT3 IL17A IL10 IFNG
8
Toxoplasmosis 36
Show member pathways
 12.18 TNF STAT3 IL10 IFNG
9
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.18 TNF IL17A IL10 IFNG HLA-A
10
NF-kappaB Signaling 4
11.88 ZAP70 TNFSF13B TNF STAT3 PTPN22 NLRP1
11
Interleukin-4 and 13 signaling 65
11.85 TNF STAT3 IL17A IL10
12
Th17 Differentiation Pathway 64
Show member pathways
 11.77 STAT3 IL17A IFNG
13
Dendritic Cells Developmental Lineage Pathway 64
11.67 TNF IL10 IFNG
14
Innate Lymphoid Cell Differentiation Pathways 64
11.66 TNF IL17A IL10 IFNG
15
CTLA4 Signaling 63
11.65 ZAP70 PTPN22 CTLA4
16
Rheumatoid arthritis 36
11.62 TNFSF13B TNF IL17A IFNG CTLA4
17
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.61 TNF ITCH IFNG CTLA4
18
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.57 TNF IFNG HLA-A
19
TGF-beta Receptor Signaling (WikiPathways) 1
11.54 TNF STAT3 IFNG
20
IgA-Producing B Cells in the Intestine 64
11.52 TNFSF13B TNF IL10 CTLA4
21
Malaria 36
11.47 TNF IL10 IFNG
22
Interleukin-10 signaling 65
11.45 TNF STAT3 IL10
23
African trypanosomiasis 36
11.29 TNF IL10 IFNG
24
IL-15 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types 64
Show member pathways
 11.27 TNF IL10 IFNG
25
IL-10 Pathway 63
11.24 TNF STAT3 IL10
26
Th1 Differentiation Pathway 64
Show member pathways
 11.23 TNF STAT3 IL17A IL10 IFNG
27
Development and heterogeneity of the ILC family 1
11.19 TNF IL17A IFNG
28
Cytokines and Inflammatory Response 1
11.12 TNF IL10 IFNG
Sources

GO Terms for Autoimmune Disease

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 10 ZAP70 IL17A IFNG HLA-A CTLA4
2 inflammatory response GO:0006954 9.97 TNF STAT3 NLRP1 ITCH IL17A
3 T cell receptor signaling pathway GO:0050852 9.84 ZAP70 PTPN22 HLA-A CTLA4
4 positive regulation of tumor necrosis factor production GO:0032760 9.81 STAT3 IL17A IFNG
5 response to organic substance GO:0010033 9.81 TNF STAT3 IL10
6 negative regulation of interleukin-6 production GO:0032715 9.79 TNF PTPN22 IL10
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.77 TNF STAT3 IFNG
8 positive regulation of interferon-gamma production GO:0032729 9.76 TNF PTPN22 HLA-A
9 immune system process GO:0002376 9.76 ZAP70 TNFSF13B PTPN22 NLRP1 ITCH IL17A
10 humoral immune response GO:0006959 9.75 TNF IFNG AIRE
11 positive regulation of cytokine production GO:0001819 9.73 TNF IL10 IFNG
12 negative regulation of autophagy GO:0010507 9.7 STAT3 PTPN22 IL10
13 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.65 TNF STAT3 IL10
14 positive regulation of signaling receptor activity GO:2000273 9.64 IL10 IFNG
15 negative regulation of amyloid-beta clearance GO:1900222 9.63 TNF IFNG
16 positive regulation of MHC class II biosynthetic process GO:0045348 9.62 IL10 IFNG
17 negative thymic T cell selection GO:0045060 9.62 ZAP70 AIRE
18 endothelial cell apoptotic process GO:0072577 9.59 TNF IL10
19 positive regulation of interleukin-6 production GO:0032755 9.56 TNF STAT3 IL17A IFNG
20 negative regulation of cytokine production involved in immune response GO:0002719 9.55 TNF IL10
21 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.54 TNF STAT3 IL17A
22 positive regulation of interleukin-23 production GO:0032747 9.51 IL17A IFNG
23 positive regulation of osteoclast differentiation GO:0045672 9.5 TNF IL17A IFNG
24 positive regulation of CD8-positive, alpha-beta T cell proliferation GO:2000566 9.49 PTPN22 HLA-A
25 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.46 TNF IFNG
26 positive regulation of vitamin D biosynthetic process GO:0060557 9.43 TNF IFNG
27 positive regulation of nitrogen compound metabolic process GO:0051173 9.4 TNF IFNG
28 positive regulation of interleukin-1 beta production GO:0032731 9.35 TNF STAT3 NLRP1 IL17A IFNG
29 immune response GO:0006955 9.28 ZAP70 TNFSF13B TNF IL17A IL10 IFNG

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.02 TNFSF13B TNF IL17A IL10 IFNG
Sources

Sources for Autoimmune Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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