Autoimmune disease
| Autoimmune diseases | |
|---|---|
| Classification and external resources | |
| Specialty | Rheumatology, gastroenterology |
| ICD-10 | D84.9, M35.9 |
| ICD-9-CM | 279.4 |
| OMIM | 109100 |
| DiseasesDB | 28805 |
| MedlinePlus | 000816 |
| MeSH | D001327 |
Autoimmune diseases arise from an abnormal immune response of the body against substances and tissues normally present in the body (autoimmunity). This may be restricted to certain organs (e.g. in autoimmune thyroiditis) or involve a particular tissue in different places (e.g. Goodpasture's disease which may affect the basement membrane in both the lung and the kidney).
The treatment of autoimmune diseases is typically with immunosuppression—medication that decreases the immune response.
A large number of autoimmune diseases are recognized. A major understanding of the underlying pathophysiology of autoimmune diseases has been the application of genome wide association scans that have identified a striking degree of genetic sharing among the autoimmune diseases.[1]
Definition
For a disease to be regarded as an autoimmune disease it needs to answer to Witebsky's postulates (first formulated by Ernst Witebsky and colleagues in 1957 and modified in 1994):[2][3]
- Direct evidence from transfer of disease-causing antibody or disease-causing T lymphocyte white blood cells
- Indirect evidence based on reproduction of the autoimmune disease in experimental animals
- Circumstantial evidence from clinical clues
- Genetic evidence suggesting "clustering" with other autoimmune diseases
Effects
Autoimmune diseases have a wide variety of different effects. They do tend to have one of three characteristic pathological effects which characterize them as autoimmune diseases:[4]
- Damage to or destruction of tissues
- Altered organ growth
- Altered organ function
It has been estimated that autoimmune diseases are among the leading causes of death among women in the United States in all age groups up to 65 years.[5]
A substantial minority of the population suffers from these diseases, which are often chronic, debilitating, and life-threatening.
There are more than 80 illnesses caused by autoimmunity.[6]
Pathophysiology
There are many theories as to how an autoimmune disease state arises. Some common ones are listed below.
Cryptic determinants/molecular sequestration
Although it is possible for a potential auto antigen to be geographically sequestered in an immune privileged site within the body (e.g. the eye), mechanisms exist to express even these antigens in a tolerogenic fashion to the immune system. However, it is impossible to induce tolerance (immune unresponsiveness) to all aspects of an autoantigen. This is because under normal physiologic conditions some regions of a self-antigen are not expressed at a sufficient level to induce tolerance. These poorly displayed areas of an antigen are called "cryptic determinants." The immune system maintains a high-affinity repertoire to the cryptic self because the presentation of these determinants was insufficient to induce strong tolerance.[7]
Molecular mimicry
The concept of molecular mimicry describes a situation in which a foreign antigen can initiate an immune response in which a T or B cell component cross-recognizes self. The cross reactive immune response is responsible for the autoimmune disease state.[8] Cross-reactive immune responses to self were first described for antibodies.
Altered glycan theory
According to this theory the effector function of the immune response is mediated by the glycans (polysaccharides) displayed by the cells and humoral components of the immune system. Individuals with autoimmunity have alterations in their glycosylation profile such that a proinflammatory immune response is favored. It is further hypothesized that individual autoimmune diseases will have unique glycan signatures.[9]
List by category
This list of autoimmune diseases is categorized by organ and tissue type to help locate diseases that may be similar.
| Other Qualifiers | |
| A | "Accepted" in prior version of this table |
| C | A comorbidity common among people with autoimmune disease, but with no evidence of being itself caused by autoimmunity |
| E | Disease is an autoimmune response triggered by a specific environmental factor |
| F | Disease is only caused by autoimmunity in only a fraction of those who suffer from it |
| I | Described as an autoinflammatory disease |
| L | Evidence to indicate autoimmunity is extremely limited or circumstantial |
| M | Disease appears under Autoimmune Diseases in MeSH |
| N | Not listed in prior version of this table |
| R | Disease appeared in prior version but has been renamed. In renaming, precedence has been given to scientific names over those based on discoverers. |
| S | "Suspected" in the prior version of this table |
| T | Disease has a known trigger, such as viral infection, vaccination, or injury |
| X | An extremely rare disease, which would suggest limited opportunity to study it and conclusively determine whether it is caused by autoimmunity |
| Y | Listed in the prior version of this table with "Accepted/Suspected" left blank |
Autoimmune Diseases
- This is a dynamic list and may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries.
| Organ/Tissue Type
Disease Name |
Level of Acceptance for Autoimmunity | Hypersensitivity
(I,II,III,IV) |
ICD-9
Codes |
Notes/Autoantibodies/Synonyms/Rare Variants |
|---|---|---|---|---|
| Major Organs<Top> | ||||
| Heart<Top> | ||||
| Myocarditis[10][11] | Moderate, F, R, A | 391.2422429.0 | Synonyms: Autoimmune myocarditis, Autoimmune cardiomyopathy, Coxsackie myocarditis | |
| Postmyocardial infarction syndrome[11] | Limited, R, Y | 411.0 | Autoantibodies: myocardial neo-antigens formed as a result of the MI. Synonyms: Dressler's syndrome | |
| Postpericardiotomy syndrome | Limited, N | 429.4 | ||
| Subacute bacterial endocarditis[12] | Limited, Y | III | 421.0 | Autoantibodies: essential mixed cryoglobulinemia. Synonyms: SBE |
| Kidney<Top> | ||||
| Anti-Glomerular Basement Membrane nephritis[13] | Moderate, R, M, A | II | 446.21 | Autoantibodies: Anti-Basement Membrane Collagen Type IV Protein. Synonyms: Goodpastures Syndrome, Glomerulonephritis Type 1 |
| Interstitial cystitis[14] | Limited, S | 595.1 | Mast cells. | |
| Lupus nephritis | Comorbidity, N | 583.81 | A comorbidity of Systemic Lupus Erythematosis.. | |
| Liver<Top> | ||||
| Autoimmune hepatitis[15][16][17] | Moderate, A | cell-mediated | 571.42 | Autoantibodies: ANA and SMA, LKM-1, LKM-2 or LKM-3; antibodies against soluble liver antigen (anti-SLA, anti-LP) no autoantibodies detected (~20%)[citation needed]. Synonyms: Lupoid hepatitis |
| Primary biliary cirrhosis[18][19][20][21] | Moderate, A | 571.6 | Autoantibodies: Anti-p62, Anti-sp100, Anti-Mitochondrial(M2)Anti-Ro aka SSA. Note that Sjogren's is classified in some places (e.g., MeSH) as rheumatoid disease, but there is no published evidence to support that classification. | |
| Primary sclerosing cholangitis | Limited, Y | 576.1 | Possible overlap with primary biliary cirrhosis. Autoantibodies: HLA-DR52a. | |
| Lung<Top> | ||||
| Antisynthetase syndrome | Limited, Y | 279.49 | ||
| Skin<Top> | ||||
| Alopecia areata[22][23] | Moderate, A | 704.01 | Autoantibodies: T-cells. Synonyms: Alopecia areata - Patchy, Totalis, Universalis | |
| Autoimmune Angioedema[24][25] | Limited, F, N | 277.6 995.1 | ||
| Autoimmune progesterone dermatitis | Limited, X, A | 279.49 | ||
| Autoimmune urticaria[26][27] | Comorbidity, A | 708 | ||
| Bullous pemphigoid[28] | Moderate, Y | 694.5 | Autoantibodies: IgG autoantibodies targeting the type XVII collagen component of hemidesmosomes. | |
| Cicatricial pemphigoid | Limited, R, X, Y | 694.61 | precipitates C3. Autoantibodies: anti-BP-1, anti BP-2. Synonyms: Benign Mucosal Pemphigoid, Ocular cicatricial pemphigoid | |
| Dermatitis herpetiformis[29] | Moderate, C, Y | 694.0 | Autoantibodies: IgA Eosinophilia; anti-epidermal transglutaminase antibodies. | |
| Discoid lupus erythematosus[30] | Limited, Y | III | 695.4 | IL-2 and IFN-gamma. |
| Epidermolysis bullosa acquisita | Moderate, Y | 694.8 | COL7A1. | |
| Erythema nodosum | Limited, F, Y | 695.2 | ||
| Gestational pemphigoid | Limited, R, Y | 646.8 | Autoantibodies: IgG and C3 misdirected antibodies intended to protect the placenta. | |
| Hidradenitis suppurativa[31] | Limited, C, S | 705.83 | ||
| Lichen planus | Limited, Y | 697.0 | ||
| Lichen sclerosus | Limited, C, Y | 701.0 | ||
| Linear IgA disease[32] | Moderate, Y | 646.8 | Synonyms: LAD | |
| Morphea[33] | Limited, C, S | 701.0 | ||
| Pemphigus vulgaris[13][29] | Moderate, M, A | II | 694.4 | Autoantibodies: Anti-Desmoglein 3 eosinophilia. |
| Pityriasis lichenoides et varioliformis acuta | Limited, C | 696.2 | ||
| Mucha-Habermann disease | Limited, C, Y | 696.2 | T-cells. Synonyms: Pityriasis lichenoides, varioliformis acuta | |
| Psoriasis[34] | Moderate, A | IV? | 696 | CD-8 T-cells, HLA-Cw6, IL-12b, IL-23b, TNFalpha, NF-κB. |
| Systemic scleroderma[33][35] | Limited, R, S | 710.1 | COL1A2 and TGF-β1. Autoantibodies: anti-nuclear antibodies, anti-centromere and anti-scl70/anti-topoisomerase antibodies. Synonyms: Diffuse cutaneous systemic sclerosis, Systemic sclerosis, Scleroderma | |
| Vitiligo[36][37] | Limited, C, S | 709.01 | NALP-1 RERE, PTPN22, LPP, IL2RA, GZMB, UBASH3A and C1QTNF6. | |
| Glands<Top> | ||||
| Endocrine<Top> | ||||
| Adrenal Gland<Top> | ||||
| Addison's disease[13] | Moderate, F, Y | 255 | Autoantibodies: 21 hydroxylase. | |
| Multi-glandular<Top> | ||||
| Autoimmune polyendocrine syndrome | Moderate, A | Unknown or multiple | 258.1 | Synonyms: Whitaker's Syndrome, APECED, Addisons Disease, Polyglandular Autoimmune Syndrome 1, PGAS-1, APS Type 1 |
| Autoimmune polyendocrine syndrome type 2[38] | Moderate, A | 258.1 | DQ2, DQ8 and DRB1*0404. Autoantibodies: anti-21 hydroxylase, anti-17 hydroxylase. Synonyms: Schmidt syndrome, Polyglandular Autoimmune Syndrome 2, PGAS-2, APS Type 2 | |
| Autoimmune polyendocrine syndrome type 3 | Moderate, A | 258.1 | Synonyms: Polyglandular Autoimmune Syndrome 3, PGAS-3, APS Type 3 | |
| Pancreas<Top> | ||||
| Autoimmune pancreatitis | Moderate, A | 577.1 | Autoantibodies: ANA; anti-lactoferrin antibodiesanti-carbonic anhydrase antibodies; rheumatoid factor. | |
| Diabetes mellitus type 1[13] | Moderate, A | IV | 250.01 | HLA-DR3, HLA-DR4. Autoantibodies: Glutamic acid decarboxylase antibodies (GADA), islet cell antibodies (ICA), and insulinoma-associated autoantibodies (IA-2), anti-insulin antibodies. |
| Thyroid Gland<Top> | ||||
| Autoimmune thyroiditis | Strong, A | IV | 245.8 | HLADR5, CTLA-4. Autoantibodies: antibodies against thyroid peroxidase and/or thyroglobulin. Synonyms: chronic lymphocytic thyroiditis, Hashimoto's thyroiditis |
| Ord's thyroiditis | Moderate, Y | 245.8 | ||
| Graves' disease[13] | Moderate, M, A | II | 242.0 | Autoantibodies: thyroid autoantibodies (TSHR-Ab) that activate the TSH-receptor (TSHR). |
| Exocrine<Top> | ||||
| Reproductive Organs<Top> | ||||
| Autoimmune Oophoritis | Moderate, N | 614.2 | ||
| Endometriosis[39] | Limited, S | 617.0 | ||
| Autoimmune orchitis | Limited, N | 604.0 | ||
| Salivary Glands<Top> | ||||
| Sjogren's syndrome[13][19][20][21] | Moderate, A | 710.2 | Autoantibodies: anti-Ro. Also, they are often present in Sjogren's syndrome.. | |
| Digestive System<Top> | ||||
| Autoimmune enteropathy | Moderate, X, Y | |||
| Celiac disease[40][41][42] | Moderate, A,E | IV?? | 579.0 | HLA-DQ8 and DQ2.5. Autoantibodies: Anti-tissue transglutaminase antibodies anti-endomysial IgA, anti-gliadin IgA. |
| Crohn's disease[43] | Moderate, Y | IV | 555 | Innate immunity; Th17; Th1; ATG16L1; CARD15;XBP1;. |
| Microscopic colitis | Limited, S | 558.9 | ||
| Ulcerative colitis[13] | Limited, A | IV | 556 | |
| Tissue<Top> | ||||
| Blood<Top> | ||||
| Antiphospholipid syndrome[13] | Moderate, M, A | 289.81 | HLA-DR7, HLA-B8, HLA-DR2, HLA-DR3. Autoantibodies: anti-cardiolipin;anti pyruvate dehydrogenase; β2 glycoprotein I; phosphatidylserine; anti apoH; Annexin A5. | |
| Aplastic anemia | Limited, F, Y | 284 | ||
| Autoimmune hemolytic anemia | Moderate, M, A | II | 283.0 | complement activation. |
| Autoimmune lymphoproliferative syndrome | Moderate, A | 279.41 | TNFRSF6; defective Fas-CD95 apoptosis. Synonyms: Canale-Smith Syndrome | |
| Autoimmune neutropenia | Moderate, F, N | 288.09 | ||
| Autoimmune thrombocytopenic purpura[13] | Moderate, M, R, A | 287.31 | Autoantibodies: anti gpIIb-IIIa or 1b-IX. Synonyms: Idiopathic Thrombocytopenic Purpura | |
| Cold agglutinin disease | Moderate, M, A | II | 283.0 | idiopathic or secondary to leukemia or infection. Autoantibodies: IgM. Synonyms: Autoimmune hemolytic anemia? |
| Essential mixed cryoglobulinemia | Limited, C, Y | 273.2 | ||
| Evans syndrome | Moderate, Y | 287.32 | Synonyms: A synonym for a combination of hemolytic anemia and thrombocytopenic purpura | |
| IgG4-related systemic disease | Limited, C, N | |||
| Paroxysmal nocturnal hemoglobinuria | Limited, F, S | 283.2 | ||
| Pernicious anemia[44] | Moderate, A | II | 281.0 | Autoantibodies: anti-parietal cell antibody. |
| Pure red cell aplasia | Limited, Y | 284.81 | ||
| Thrombocytopenia[45][46] | Limited, F, Y | II | 287.5 | Multiple mechanisms. Autoantibodies: glycoproteins IIb-IIIa or Ib-IX in ITP anti-ADAMTS13 in TTP. and HUS anti-cardiolipin (anti-cardiolipin antibodies) and β2 glycoprotein I in Antiphospholipid syndrome anti-HPA-1a, anti-HPA-5b, and others in NAIT. Synonyms: Neonatal thrombocytopenia |
| Connective Tissue, Systemic, and multi-organ<Top> | ||||
| Adiposis dolorosa[47] | Limited, L, S | 272.8 | Lipoid tissue. Synonyms: Dercum's disease | |
| Adult-onset Still's disease[48] | Moderate, Y | 714.2 | macrophage migration inhibitory factor. Autoantibodies: ANA. | |
| Ankylosing Spondylitis[24][25] | Limited, S | 720.0 | CD8; HLA-B27. | |
| CREST syndrome | Limited, Y | 710.1 | Autoantibodies: Anti-centromere antibodies Anti-nuclear antibodies. | |
| Drug-induced lupus | Moderate, Y | 710.0 | Autoantibodies: Anti-histone antibodies. | |
| Enthesitis-related arthritis[49][50][51][52] | Limited, C, Y | MMP3, TRLR2, TLR4, ERAP1. Autoantibodies: .. Synonyms: A subtype of Juvenile Rheumatoid Arthritis | ||
| Eosinophilic fasciitis | Limited, F, A | 728.89 | Synonyms: Shulman's syndrome | |
| Felty syndrome[53] | Strong, M, Y | 714.1 | ||
| Juvenile Arthritis[48] | Strong, M, R, Y | 714.30 | Autoantibodies: inconsistent ANA Rheumatoid factor. Synonyms: Juvenile rheumatoid arthritis, Juvenile idiopathic arthritis | |
| Lyme disease (Chronic)[54] | Limited, L, T, N | 088.81 | ||
| Mixed connective tissue disease[13] | Moderate, M, A | 710.8 | HLA-DR4. Autoantibodies: anti-nuclear antibody anti-U1-RNP. | |
| Palindromic rheumatism[55] | Limited, Y | 719.3 | Autoantibodies: anti-cyclic citrullinated peptide antibodies (anti-CCP) and antikeratin antibodies (AKA). Synonyms: Hench-Rosenberg syndrome | |
| Parry Romberg syndrome | Limited, Y | 349.89351.8 | Autoantibodies: ANA. | |
| Parsonage-Turner syndrome | Limited, Y | 353.5 | ||
| Psoriatic arthritis[56] | Moderate, C, A | IV? | 696.0 | HLA-B27. |
| Reactive arthritis | Limited, C, F, Y | 099.3 | Synonyms: Reiter's syndrome | |
| Relapsing polychondritis[57] | Strong, A | 733.99 | Synonyms: atrophic polychondritis, systemic chondromalacia, chronic atrophic polychondritis, Meyenburg-Altherr-Uehlinger syndrome, generalized chondromalacia, systemic chondromalacia | |
| Retroperitoneal fibrosis | Limited, Y | 593.4 | ||
| Rheumatic fever[58][59] | Moderate, T, A | II | 390 | Autoantibodies: streptococcal M protein cross reacts with human myosin. |
| Rheumatoid arthritis[13] | Strong, M, A | III | 714 | HLA-DR4, PTPN22, depleted B cells, TNF alpha, IL-17, (also maybe IL-1, 6, and 15). Autoantibodies: Rheumatoid factor (anti-IgGFc), Anti-MCV, ACPAs(Vimentin). |
| Sarcoidosis[60][61][62] | Limited, S | IV | 135 | BTNL2; HLA-B7-DR15; HLA DR3-DQ2. |
| Schnitzler syndrome | Limited, L, X, Y | 273.1 | IgM?. | |
| Systemic Lupus Erythematosus[13][19][20][21][29][63] | Strong, M, A | III | 695.4 | Autoantibodies: Anti-nuclear antibodies anti-Ro. Also, they are often present in Sjogren's syndrome. Eosinophilia. Synonyms: Lupus |
| Undifferentiated connective tissue disease | Moderate, C, A | 710.9 | HLA-DR4. Autoantibodies: anti-nuclear antibody. Synonyms: Latent lupus, incomplete lupus | |
| Muscle<Top> | ||||
| Dermatomyositis[64][65] | Moderate, F, X, A | 710.3 | B- and T-cell perivascular inflammatory infiltrate on muscle biopsy. Autoantibodies: histidine-tRNA anti-signal recognition peptide Anti-Mi-2 Anti-Jo1.. Synonyms: Juvenile dermatomyositis | |
| Fibromyalgia | Limited, C, F, N | 729.1 | ||
| Inclusion body myositis | Limited, F, Y | 359.71 | Similar to polymyositis but does not respond to steroid therapy-activated T8 cells. | |
| Myositis | Limited, F, Y | 729.1 | ||
| Myasthenia gravis[13] | Strong, M, A | II | 358 | HA-B8 HLA-DR3 HLA-DR1. Autoantibodies: nicotinic acetylcholine receptor MuSK protein. |
| Neuromyotonia[66] | Limited, F, S | II? | 333.90 | Autoantibodies: Voltage-gated potassium channels. Synonyms: Isaacs' Syndrome |
| Paraneoplastic cerebellar degeneration[67][68][69] | Limited, Y | IV? II? | 334.9 | Autoantibodies: anti-Yo (anti-cdr-2 in purkinje fibers) anti-Hu, anti-Tr, antiglutamate receptor. |
| Polymyositis[64] | Limited, F, A | 710.4 | Autoantibodies: IFN-gamma, IL-1, TNF-alpha. | |
| Nervous System<Top> | ||||
| Acute disseminated encephalomyelitis | Strong, M, T, A | 323.61323.81 | Synonyms: ADEM, Perivenous encephalomyelitis, Acute hemorrhagic leukoencephalitis, AHL, AHLE, acute necrotizing encephalopathy (ANE), acute hemorrhagic encephalomyelitis (AHEM), acute necrotizing hemorrhagic leukoencephalitis (ANHLE), Weston-Hurst syndrome, Hurst's disease | |
| Acute motor axonal neuropathy[70] | Limited, N | 356.8 | ||
| Anti-N-Methyl-D-Aspartate Receptor Encephalitis[71] | Moderate, N | Synonyms: Anti-NMDA Encephalitis | ||
| Balo concentric sclerosis | Moderate, Y | 341.1 | Synonyms: Balo disease, Schilders disease | |
| Bickerstaff's encephalitis | Limited, Y | 323.62 | similar to Guillain-Barré syndrome. Autoantibodies: Anti-GQ1b 2/3 patients. | |
| Chronic inflammatory demyelinating polyneuropathy[72] | Moderate, C, Y | 357.81 | similar to Guillain–Barré syndrome. Autoantibodies: anti-ganglioside antibodies. Synonyms: Relapsing polyneuropathy (CRP), chronic inflammatory demyelinating polyradiculoneuropathy, Chronic inflammatory demyelinating polyneuritis | |
| Guillain–Barré syndrome[13] | Strong, M, A | IV | 357.0 | Autoantibodies: Anti-ganglioside, anti-GQ1b. Synonyms: Miller-Fisher syndrome, Landry's paralysis |
| Hashimoto's encephalopathy[13][73] | Moderate, C, X, A | IV | Autoantibodies: alpha-enolase. Synonyms: Steroid-responsive encephalopathy associated with autoimmune thyroiditis, SREAT, Nonvasculitic autoimmune meningoencephalitis, NAIM, Encephalopathy Associated with Autoimmune Thyroid Disease, EAATD | |
| Idiopathic inflammatory demyelinating diseases | Limited, F, Y | 356.8 | a variant of multiple sclerosis. | |
| Lambert-Eaton myasthenic syndrome | Strong, M, Y | 358.1 | HLA-DR3-B8. Autoantibodies: voltage-gated calcium channels; Q-type calcium channel, synaptogagmin, muscarinic acetylcholine receptor M1. | |
| Multiple sclerosis[74][74][75] | Strong, M, A | IV | 340 | Autoantibody against potassium channel. Also invoved HLA-DR2, PECAM-1, Anti-myelin basic protein. Autoantibodies: Anti-Kir4.1 (heterogeneous). Synonyms: Primary progressive multiple sclerosis, Relapsing-remitting multiple sclerosis, disseminated sclerosis, encephalomyelitis disseminata |
| Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcus | Limited, F, S | II? | 279.49 | antibodies against streptococcal infection serve as auto-antibodies. Synonyms: PANDAS |
| Progressive inflammatory neuropathy | Limited, X, S | 356.4 | similar to Guillain-Barré syndrome. Autoantibodies: Anti-ganglioside antibodies:anti-GM1, anti-GD1a, anti-GQ1b. | |
| Restless leg syndrome | Limited, C, S | 333.94 | May occur in Sjogren's syndrome, celiac disease, and rheumatoid arthritis or in derangements of iron metabolism. | |
| Stiff person syndrome[76] | Limited, S | 333.91 | GLRA1 (glycine receptor). Autoantibodies: glutamic acid decarboxylase (GAD). | |
| Sydenham chorea | Limited, T, Y | 392 | ||
| Transverse myelitis | Limited, M, A | 323.82341.2 | ||
| Eyes<Top> | ||||
| Autoimmune retinopathy[77] | Limited, X, N | |||
| Autoimmune uveitis | Moderate, F, A | 364 | Autoantibodies: HLAB-27?. | |
| Cogan syndrome | Limited, F, Y | 370.52 | ||
| Graves ophthalmopathy | Moderate, M, N | 242.9 | ||
| Intermediate uveitis | Limited, L, Y | 364.3 | Synonyms: Pars planitis, Peripheral Uveitis | |
| Ligneous conjunctivitis | Limited, L, N | 372.39 | ||
| Mooren's ulcer | Limited, L, N | 370.07 | ||
| Neuromyelitis optica[78][79] | Limited, M, Y | II? | 341.0 | Autoantibodies: NMO-IgG aquaporin 4. Synonyms: Devic's disease |
| Opsoclonus myoclonus syndrome[80] | Limited, X, S | IV? | 379.59 | Lymphocyte recruitment to CSF. |
| Optic neuritis | Limited, C, Y | 377.30 | ||
| Scleritis | Limited, C, Y | 379.0 | ||
| Susac's syndrome | Limited, C, Y | 348.39 | Synonyms: Retinocochleocerebral Vasculopathy | |
| Sympathetic ophthalmia | Limited, I, Y | 360.11 | Autoantibodies: ocular antigens following trauma. | |
| Tolosa-Hunt syndrome | Limited, I, X, Y | 378.55 | ||
| Ears<Top> | ||||
| Autoimmune inner ear disease[81] | Limited, A | 388.8 | Synonyms: AIED | |
| Ménière's disease[82] | Limited, Y | III? | 386.00 | Autoantibodies: major peripheral myelin protein P0. |
| Vascular system<Top> | ||||
| Anti-neutrophil cytoplasmic antibody-associated vasculitis[83] | Strong, M, A | 447.6 | Autoantibodies: Anti-neutrophil cytoplasmic(cANCA). Synonyms: Wegener Granulomatosis, Granulomatosis with Polyangiitis | |
| Behçet's disease | Limited, I, X, A | 136.1 | immune-mediated systemic vasculitis; linkage to HLA-B51 (HLA-B27); very different manifestations with ulcers as common symptom. Synonyms: Morbus Adamandiades-Behçet. Rare Variant: Hughes-Stovin syndrome | |
| Churg-Strauss syndrome[29] | Limited, I, X, Y | 446.4 | Autoantibodies: p-ANCA Eosinophilia. | |
| Giant cell arteritis [13] | Limited, I, R, A | IV | 446.5 | Synonyms: Cranial arteritis, Temporal Arteritis |
| Henoch-Schonlein purpura | Limited, L, Y | 287.0 | Autoantibodies: immunoglobulin A (IgA) and complement component 3 (C3). Synonyms: anaphylactoid purpura, purpura rheumatica, Schönlein–Henoch purpura | |
| Kawasaki's disease | Moderate, S,E[84] | 446.1 | ITPKC HLA-B51. Synonyms: Kawasaki syndrome, lymph node syndrome, mucocutaneous lymph node syndrome | |
| Leukocytoclastic vasculitis | Limited, L, Y | 447.6 | ||
| Lupus vasculitis | Moderate, C, N | 583.81 | A comorbidity of Systemic Lupus Erythematosis. | |
| Rheumatoid vasculitis | Moderate, C, N | 447.6 | A symptom of Lupus. | |
| Microscopic polyangiitis | Limited, Y | 446.0 | Binds to neutrophils causing them to degranulate and damages endothelium. Autoantibodies: p-ANCA myeloperoxidase. Synonyms: microscopic polyarteritis,microscopic polyarteritis nodosa, MPA | |
| Polyarteritis nodosa | Limited, L, Y | 446.0 | Synonyms: panarteritis nodosa, periarteritis nodosa, Kussmaul disease, Kussmaul-Maier disease | |
| Polymyalgia rheumatica | Limited, L, Y | 725 | ||
| Urticarial vasculitis[85] | Limited, X, Y | II? | 708.9 | Clinically may resemble type I hypersensitivity. Autoantibodies: anti C1q antibodies. |
| Vasculitis[28] | Strong, I, M, F, A | III | 447.6 | Autoantibodies: sometimes ANCA. |
Autoimmune Comorbidities
This list includes conditions that are not diseases but signs common to autoimmune disease. Some, such as Chronic Fatigue Syndrome, are controversial.[11] These conditions are included here because they are frequently listed as autoimmune diseases but should not be included in the list above until there is more consistent evidence.
| Organ/Tissue Type
Disease Name |
Level of Acceptance for Autoimmunity | Hypersensitivity
(I,II,III,IV) |
ICD-9
Codes |
Notes/Autoantibodies/Synonyms |
|---|---|---|---|---|
| Chronic fatigue syndrome | Comorbidity, N | Symptomatic of autoimmune diseases or autoimmune activity, but not a disease or a cause of disease. | ||
| Complex regional pain syndrome | Comorbidity, N | Symptomatic of autoimmune diseases or autoimmune activity, but not a disease or a cause of disease. Synonyms: Amplified Musculoskeletal Pain Syndrome, Reflex Neurovascular Dystrophy, Reflex sympathetic dystrophy | ||
| Eosinophilic esophagitis | Comorbidity, N | 530.13 | ||
| Gastritis | Comorbidity, Y | Possibly symptomatic of autoimmune diseases, but not a disease or a cause of disease. Autoantibodies: serum antiparietal and anti-IF antibodies. | ||
| POEMS syndrome[86] | Comorbidity, Y | Possibly symptomatic of autoimmune diseases, but not a disease or a cause of disease. Autoantibodies: interleukin 1β, interleukin 6 and TNFα. vascular endothelial growth factor (VEGF), given the .. | ||
| Raynaud phenomenon | Comorbidity, S | Symptomatic of autoimmune diseases or autoimmune activity, but not a disease or a cause of disease. | ||
| Primary immunodeficiency[87] | Comorbidity, N | 279.8 | The condition is inherited, but it is associated with several autoimmune diseases. | |
| Pyoderma gangrenosum | Comorbidity, Y | Possibly symptomatic of autoimmune diseases, but not a disease or a cause of disease. | ||
Not Autoimmune
At this time, there is not sufficient evidence - direct, indirect, or circumstantial - to indicate that these diseases are caused by autoimmunity. These conditions are included here because:
- The disease was listed in the prior version of this table
- The disease is included in several widely used lists of autoimmune disease. It is included here to ensure that a person visiting this page does not conclude that the disease was not considered. Before moving a condition from here to the list of autoimmune diseases, references should be provided in the Wikipedia page for the condition that point to evidence of autoimmunity.
| Organ/Tissue Type
Disease Name |
Level of Acceptance for Autoimmunity | Hypersensitivity
(I,II,III,IV) |
ICD-9
Codes |
Notes/Autoantibodies/Synonyms |
|---|---|---|---|---|
| Agammaglobulinemia | Not Autoimmune, Y | 279.00 | An immune system disorder but not an autoimmune disease.. Autoantibodies: IGHM; IGLL1: CD79A; CD79B; BLNK; LRRC8A. | |
| Amyloidosis | Not Autoimmune, N | 277.30 | No consistent evidence of association with autoimmunity. | |
| Amyotrophic lateral sclerosis | Not Autoimmune, Y | 335.20 | No consistent evidence of association with autoimmunity. Autoantibodies: Amyotrophic lateral sclerosis (Also Lou Gehrig's disease; Motor Neuron Disease). | |
| Anti-tubular basement membrane nephritis | Not Autoimmune, N | No consistent evidence of association with autoimmunity. | ||
| Atopic allergy | Not Autoimmune, Y | I | 691.8 | A hypersensitivity. |
| Atopic dermatitis | Not Autoimmune, Y | I | 691.8 | A hypersensitivity. |
| Autoimmune peripheral neuropathy | Not Autoimmune, F, A | A class of diseases, some of which may be autoimmune. See specific diseases that are listed as autoimmune.. | ||
| Blau syndrome | Not Autoimmune, Y | Overlaps both sarcoidosis and granuloma annulare. No evidence of association with autoimmunity. | ||
| Cancer | Not Autoimmune, Y | No consistent evidence of association with autoimmunity. | ||
| Castleman's disease | Not Autoimmune, Y | An immune system disorder but not an autoimmune disease.. Autoantibodies: Over expression of IL-6. | ||
| Chagas disease[88] | Not Autoimmune, S | No consistent evidence of association with autoimmunity. | ||
| Chronic obstructive pulmonary disease[89][90] | Not Autoimmune, S | No consistent evidence of association with autoimmunity. | ||
| Chronic recurrent multifocal osteomyelitis | Not Autoimmune, Y | LPIN2, D18S60. Synonyms: Majeed syndrome | ||
| Complement component 2 deficiency | Not Autoimmune, Y | Possibly symptomatic of autoimmune diseases, but not a disease. | ||
| Congenital heart block | Not Autoimmune, N | May be related to autoimmune activity in the mother. | ||
| Contact dermatitis | Not Autoimmune, Y | IV | A hypersensitivity. | |
| Cushing's syndrome | Not Autoimmune, Y | No consistent evidence of association with autoimmunity. | ||
| Cutaneous leukocytoclastic angiitis | Not Autoimmune, Y | No consistent evidence of association with autoimmunity. Autoantibodies: neutrophils. | ||
| Dego's disease | Not Autoimmune, Y | No consistent evidence of association with autoimmunity. | ||
| Eczema[91][92][93] | Not Autoimmune, Y | No consistent evidence of association with autoimmunity. Autoantibodies: LEKTI, SPINK5, filaggrin., Brain-derived neurotrophic factor (BDNF) and Substance P.. | ||
| Eosinophilic gastroenteritis | Not Autoimmune, Y | Possibly a hypersensitivity. Autoantibodies: IgE, IL-3, IL-5, GM-CSF, eotaxin. | ||
| Eosinophilic pneumonia | Not Autoimmune, F, Y | A class of diseases, some of which may be autoimmune. Specifically, Churg-Strauss syndrome, a subtype of Eosinophilic pneumonia, is autoimmune. | ||
| Erythroblastosis fetalis | Not Autoimmune, Y | II | Mother's immune system attacks fetus. An immune system disorder but not autoimmune. Autoantibodies: ABO, Rh, Kell antibodies. | |
| Fibrodysplasia ossificans progressiva | Not Autoimmune, Y | Possibly an immune system disorder but not autoimmune. Autoantibodies: ACVR1 Lymphocytes express increased BMP4. | ||
| Gastrointestinal pemphigoid | Not Autoimmune, A | No consistent evidence of association with autoimmunity. | ||
| Hypogammaglobulinemia | Not Autoimmune, Y | An immune system disorder but not autoimmune. Autoantibodies: IGHM, IGLL1, CD79A, BLNK, LRRC8A, CD79B. | ||
| Idiopathic giant-cell myocarditis[94] | Not Autoimmune, N | No consistent evidence of autoimmune cause though the disease has been found comorbid with other autoimmune diseases. Synonyms: Giant cell myocarditis | ||
| Idiopathic pulmonary fibrosis[95][95] | Not Autoimmune, Y | Autoantibodies: SFTPA1, SFTPA2, TERT, and TERC.. Synonyms: Fibrosing alveolitis | ||
| IgA nephropathy | Not Autoimmune, Y | III? | Autoantibodies: IgA produced from marrow rather than MALT. Synonyms: IgA nephrits, Berger's disease, Synpharyngitic Glomerulonephritis. An immune system disorder but not an autoimmune disease. | |
| Immunoregulatory lipoproteins[96] | Not Autoimmune, N | Not a disease. | ||
| IPEX syndrome | Not Autoimmune, N | A genetic mutation in FOXP3 that leads to autoimmune diseases, but no consistent evidence that it is an autoimmune disorder itself.. Synonyms: X-linked polyendocrinopathy, immunodeficiency and diarrhea-syndrome (XLAAD) | ||
| Ligneous conjunctivitis | Not Autoimmune, N | No consistent evidence of association with autoimmunity. | ||
| Majeed syndrome | Not Autoimmune, Y | No consistent evidence of association with autoimmunity. Autoantibodies: LPIN2. | ||
| Narcolepsy[97][98][99][100] | Not Autoimmune, Y | II? | No evidence of association with autoimmunity. Research not reproducible. Autoantibodies: hypocretin or orexin, HLA-DQB1*0602. | |
| Rasmussen's encephalitis | Not Autoimmune, Y | No consistent evidence of association with autoimmunity. Autoantibodies: anti-NR2A antibodies. | ||
| Schizophrenia[101][102][103] | Not Autoimmune, S | No consistent evidence of association with autoimmunity. | ||
| Serum sickness | Not Autoimmune, Y | III | A hypersensitivity. | |
| Spondyloarthropathy | Not Autoimmune, Y | No consistent evidence of association with autoimmunity. Autoantibodies: HLA-B27. | ||
| Sweet's syndrome | Not Autoimmune, Y | No consistent evidence of association with autoimmunity. Autoantibodies: GCSF. | ||
| Takayasu's arteritis | Not Autoimmune, Y | No consistent evidence of association with autoimmunity. | ||
| Undifferentiated spondyloarthropathy | Not Autoimmune, Y | See Enthesitis-related arthritis. | ||
Development of therapies
In both autoimmune and inflammatory diseases, the condition arises through aberrant reactions of the human adaptive or innate immune systems. In autoimmunity, the patient's immune system is activated against the body's own proteins. In chronic inflammatory diseases, neutrophils and other leukocytes are constitutively recruited by cytokines and chemokines, leading to tissue damage.
Mitigation of inflammation by activation of anti-inflammatory genes and the suppression of inflammatory genes in immune cells is a promising therapeutic approach.[104][105][106]
See also
References
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- ↑ Blauwet, Lori A.; Cooper, Leslie T. (31 October 2012). "Idiopathic giant cell myocarditis and cardiac sarcoidosis". Heart Failure Reviews 18 (6): 733–746. doi:10.1007/s10741-012-9358-3.
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- ↑ van der Vliet, Hans J. J.; Nieuwenhuis, Edward E. (2007). "IPEX as a Result of Mutations in FOXP3". Clinical and Developmental Immunology 2007: 1–5. doi:10.1155/2007/89017. PMC 2248278. PMID 18317533.
- ↑ Hallmayer J, Faraco J, Lin L, Hesselson S, Winkelmann J, Kawashima M, Mayer G, Plazzi G, Nevsimalova S, Bourgin P, Hong SC, Hong SS, Honda Y, Honda M, Högl B, Longstreth WT, Montplaisir J, Kemlink D, Einen M, Chen J, Musone SL, Akana M, Miyagawa T, Duan J, Desautels A, Erhardt C, Hesla PE, Poli F, Frauscher B, Jeong JH, Lee SP, Ton TG, Kvale M, Kolesar L, Dobrovolná M, Nepom GT, Salomon D, Wichmann HE, Rouleau GA, Gieger C, Levinson DF, Gejman PV, Meitinger T, Young T, Peppard P, Tokunaga K, Kwok PY, Risch N, Mignot E (June 2009). "Narcolepsy is strongly associated with the TCR alpha locus". Nat. Genet. 41 (6): 708–11. doi:10.1038/ng.372. PMC 2803042. PMID 19412176.
- ↑ "Narcolepsy is an autoimmune disorder, Stanford researcher says". EurekAlert. American Association for the Advancement of Science. 2009-05-03. Archived from the original on 10 May 2009. Retrieved 2009-05-31.
- ↑ Mignot E (2001). "A commentary on the neurobiology of the hypocretin/orexin system". Neuropsychopharmacology 25 (5 Suppl): S5–13. doi:10.1016/S0893-133X(01)00316-5. PMID 11682267.
- ↑ Maret S, Tafti M (November 2005). "Genetics of narcolepsy and other major sleep disorders" (PDF). Swiss Medical Weekly (EMH Swiss Medical Publishers Ltd.) 135 (45–46): 662–5. PMID 16453205. Archived (PDF) from the original on 14 April 2008. Retrieved 2008-03-07.
- ↑ Eaton WW, Byrne M, Ewald H, Mors O, Chen CY, Agerbo E, Mortensen PB (2006). "Association of schizophrenia and autoimmune diseases: linkage of Danish national registers". The American Journal of Psychiatry 163 (3): 521–8. doi:10.1176/appi.ajp.163.3.521. PMID 16513876.
- ↑ Jones AL, Mowry BJ, Pender MP, Greer JM (2005). "Immune dysregulation and self-reactivity in schizophrenia: do some cases of schizophrenia have an autoimmune basis?". Immunol. Cell Biol. 83 (1): 9–17. doi:10.1111/j.1440-1711.2005.01305.x. PMID 15661036.
- ↑ Strous RD, Shoenfeld Y (2006). "Schizophrenia, autoimmunity and immune system dysregulation: a comprehensive model updated and revisited". J. Autoimmun. 27 (2): 71–80. doi:10.1016/j.jaut.2006.07.006. PMID 16997531.
- ↑ Mukundan L, Odegaard JI, Morel CR, Heredia JE, Mwangi JW, Ricardo-Gonzalez RR, Goh YP, Eagle AR, Dunn SE; et al. (Nov 2009). "PPAR-delta senses and orchestrates clearance of apoptotic cells to promote tolerance". Nat Med 15 (11): 1266–72. doi:10.1038/nm.2048. PMC 2783696. PMID 19838202.
- ↑ Roszer T, Menéndez-Gutiérrez MP, Lefterova MI, Alameda D, Núñez V, Lazar MA, Fischer T, Ricote M (Jan 2011). "Autoimmune kidney disease and impaired engulfment of apoptotic cells in mice with macrophage peroxisome proliferator-activated receptor gamma or retinoid X receptor alpha deficiency". J Immunol 186 (1): 621–31. doi:10.4049/jimmunol.1002230. PMID 21135166.
- ↑ Singh RP, Waldron RT, Hahn BH (2012). "Genes, tolerance and systemic autoimmunity". Autoimmunity Reviews 11 (9): 664–9. doi:10.1016/j.autrev.2011.11.017. PMC 3306516. PMID 22155015.
Further reading
- Vinay Kumar, Abul K. Abbas, Nelson Fausto, Jon Aster, Robbins and Cotran Pathologic Basis of Disease, Elsevier, 8th edition, 2010, 1464 pp., ISBN 978-1-4160-3121-5
- Handbook of Systemic Autoimmune Diseases, edited by Ronald Asherson, Elsevier, in 10 Volumes: http://www.elsevier.com/wps/find/bookdescription.cws_home/BS_HSAD/description#description
- Ronald Asherson, Andrea Doria, Paolo Pauletto, The Heart in Systemic Autoimmune Diseases, Volume 1, 2004, ISBN 978-0-444-51398-4, ISBN 0-444-51398-1
- Ronald Asherson, Andrea Doria, Paolo Pauletto, Pulmonary Involvement in Systemic Autoimmune Diseases, Volume 2, 2005, ISBN 978-0-444-51652-7, ISBN 0-444-51652-2
- Ronald Asherson, Doruk Erkan, Steven Levine, The Neurologic Involvement in Systemic Autoimmune Diseases, Volume 3, 2005, ISBN 978-0-444-51651-0, ISBN 0-444-51651-4
- Michael Lockshin, Ware Branch (eds), Reproductive and Hormonal Aspects of Systemic Autoimmune Diseases, Volume 4, 2006, ISBN 978-0-444-51801-9, ISBN 0-444-51801-0
- Piercarlo Sarzi-Puttini, Ronald Asherson, Andrea Doria, Annegret Kuhn, Giampietro Girolomoni (eds), The Skin in Systemic Autoimmune Diseases, Volume Volume 5, 2006, ISBN 978-0-444-52158-3, ISBN 0-444-52158-5
- Rolando Cimaz, Ronald Asherson, Thomas Lehman (eds), Pediatrics in Systemic Autoimmune Diseases, Volume 6, 2008, ISBN 978-0-444-52971-8, ISBN 0-444-52971-3
- Justin Mason, Ronald Asherson, Charles Pusey (eds), The Kidney in Systemic Autoimmune Diseases, Volume 7, 2008, ISBN 978-0-444-52972-5, ISBN 0-444-52972-1
- Ronald Asherson, Manel Ramos-Casals, Joan Rodes, Josep Font, Digestive Involvement in Systemic Autoimmune Diseases, Volume 8, 2008, ISBN 978-0-444-53168-1, ISBN 0-444-53168-8
- Ronald Asherson, Sara Walker, Luis Jara, Endocrine Manifestations of Systemic Autoimmune Diseases, Volume 9, 2008, ISBN 978-0-444-53172-8, ISBN 0-444-53172-6
- R. Cervera, Ronald Asherson, Munther Khamashta, Joan Carles Reverter (eds), Antiphospholipid Syndrome in Systemic Autoimmune Diseases, Volume 10, 2009, ISBN 978-0-444-53169-8, ISBN 0-444-53169-6
- www.autoimmunityblog.com - a glossary of autoimmune diseases and the related autoantibodies plus summaries of recent research articles.
External links
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