出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/07/04 23:48:39」(JST)
Autoimmune diseases | |
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Classification and external resources | |
ICD-10 | D84.9, M35.9 |
ICD-9 | 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]
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]
It has been estimated that autoimmune diseases are among the ten leading causes of death among women in all age groups up to 65 years.[4]
A substantial minority of the population suffers from these diseases, which are often chronic, debilitating, and life-threatening. There are more than eighty illnesses caused by autoimmunity.[5]
It is possible to classify autoimmune diseases by corresponding type of hypersensitivity: type II, type III, or type IV. (No type of autoimmune disease mimics type I hypersensitivity.)[6]
There is continuing debate about when a disease should be considered autoimmune, leading to different criteria such as Witebsky's postulates.
Name: | Accepted/ suspected |
Hypersensitivity
I, II, III, IV |
Autoantibody | Notes | |
---|---|---|---|---|---|
Acute disseminated encephalomyelitis (ADEM) | Accepted[7] | ||||
Addison's disease | interferon omega; transglutaminase; aromatic acid carboxylase; GAD; HAI; 17 hydroxylase; 21 hydroxylase | ||||
Agammaglobulinemia | IGHM; IGLL1: CD79A; CD79B; BLNK; LRRC8A | ||||
Alopecia areata | Accepted[8][9] | T-cells | |||
Amyotrophic lateral sclerosis (Also Lou Gehrig's disease; Motor Neuron Disease) | VCP, ATXN2, OPTN, FIG4, TARDBP, ANG, VAPB, FUS, SETX, ALS2, SOD1 | ||||
Ankylosing Spondylitis | Suspected[10][11] | CD8; HLA-B27 | |||
Antiphospholipid syndrome | Accepted[7] | anti-cardiolipin;anti pyruvate dehydrogenase; β2 glycoprotein I; phosphatidylserine; anti apoH; Annexin A5 | HLA-DR7, HLA-B8, HLA-DR2, HLA-DR3 | ||
Antisynthetase syndrome | |||||
Atopic allergy | I | ||||
Atopic dermatitis | I | ||||
Autoimmune aplastic anemia | |||||
Autoimmune cardiomyopathy | Accepted | ||||
Autoimmune enteropathy | |||||
Autoimmune hemolytic anemia | Accepted | II | complement activation | ||
Autoimmune hepatitis | Accepted | cell-mediated | anti-mitochondrial antibodies; ANA; anti-smooth muscle antibodies, LKM-1; soluble liver antigen | ||
Autoimmune inner ear disease | Accepted | [12] | |||
Autoimmune lymphoproliferative syndrome | Accepted | TNFRSF6; defective Fas-CD95 apoptosis | |||
Autoimmune peripheral neuropathy | Accepted | ||||
Autoimmune pancreatitis | Accepted | ANA; anti-lactoferrin antibodiesanti-carbonic anhydrase antibodies; rheumatoid factor | |||
Autoimmune polyendocrine syndrome | Accepted | Unknown or multiple | APS-1 see Addison's disease | ||
Autoimmune progesterone dermatitis | Accepted | ||||
Autoimmune thrombocytopenic purpura | Accepted | anti gpIIb-IIIa or 1b-IX | |||
Autoimmune urticaria | Accepted | [13] | |||
Autoimmune uveitis | Accepted | HLAB-27? | |||
Balo disease/Balo concentric sclerosis | |||||
Behçet's disease | Accepted | immune-mediated systemic vasculitis; linkage to HLA-B51 (HLA-B27); very different manifestations with ulcers as common symptom; also called Morbus Adamandiades-Behçet | |||
Berger's disease | IgA (elevated in 50% of patients), IgA (in mesangial deposits on kidney biopsy) | ||||
Bickerstaff's encephalitis | Anti-GQ1b 2/3 patients | similar to Guillain-Barré syndrome | |||
Blau syndrome | overlaps both sarcoidosis and granuloma annulare | ||||
Bullous pemphigoid | IgG autoantibodies targeting the type XVII collagen component of hemidesmosomes | [14] | |||
Cancer | |||||
Castleman's disease | Over expression of IL-6 | ||||
Celiac disease | Accepted[15][16][17] | IV?? | Anti-tissue transglutaminase antibodies anti-endomysial IgA, anti-gliadin IgA | HLA-DQ8 and DQ2.5 | |
Chagas disease | Suspected[18] | ||||
Chronic inflammatory demyelinating polyneuropathy | Anti-ganglioside antibodies:anti-GM1, anti-GD1a, anti-GQ1b | similar to Guillain-Barré syndrome | |||
Chronic recurrent multifocal osteomyelitis | LPIN2, D18S60,similar to Majeed syndrome | ||||
Chronic obstructive pulmonary disease | Suspected[19][20] | ||||
Churg-Strauss syndrome | p-ANCA Eosinophilia[21] | ||||
Cicatricial pemphigoid | anti-BP-1, anti BP-2 | precipitates C3 | |||
Cogan syndrome | |||||
Cold agglutinin disease | Accepted | II | IgM | idiopathic or secondary to leukemia or infection | |
Complement component 2 deficiency | |||||
Contact dermatitis | IV | ||||
Cranial arteritis | aka Temporal arteritis; involves giant cells | ||||
CREST syndrome | Anti-centromere antibodies Anti-nuclear antibodies | ||||
Crohn's disease | Immune related[22] | IV | Innate immunity; Th17; Th1; ATG16L1; CARD15;XBP1; | ||
Cushing's Syndrome | cortisol binding globulin? | ||||
Cutaneous leukocytoclastic angiitis | neutrophils | ||||
Dego's disease | Vasculopathy | ||||
Dercum's disease | Suspected | Lipoid tissue.[23] | |||
Dermatitis herpetiformis | IgA Eosinophilia;[21] anti-epidermal transglutaminase antibodies | ||||
Dermatomyositis | Accepted[24] | histidine-tRNA anti-signal recognition peptide Anti-Mi-2 Anti-Jo1.[25] | B- and T-cell perivascular inflammatory infiltrate on muscle biopsy | ||
Diabetes mellitus type 1 | Accepted[7] | IV | Glutamic acid decarboxylase antibodies (GADA), islet cell antibodies (ICA), and insulinoma-associated autoantibodies (IA-2), anti-insulin antibodies | HLA-DR3, HLA-DR4 | |
Diffuse cutaneous systemic sclerosis | anti-nuclear antibodies, anti-centromere and anti-scl70/anti-topoisomerase antibodies[26] | COL1A2 and TGF-β1 | |||
Dressler's syndrome | myocardial neo-antigens formed as a result of the MI | ||||
Drug-induced lupus | Anti-histone antibodies | ||||
Discoid lupus erythematosus | III | IL-2 and IFN-gamma>[27] | |||
Eczema | LEKTI, SPINK5,[28] filaggrin.,[29] Brain-derived neurotrophic factor (BDNF) and Substance P.[30] | ||||
Endometriosis | Suspected[31] | ||||
Enthesitis-related arthritis[32] | . | MMP3[33] TRLR2, TLR4,[34] ERAP1[35] | |||
Eosinophilic fasciitis | Accepted | ||||
Eosinophilic gastroenteritis | IgE | IL-3, IL-5, GM-CSF, eotaxin | |||
Eosinophilic pneumonia | |||||
Epidermolysis bullosa acquisita | COL7A1 | ||||
Erythema nodosum | |||||
Erythroblastosis fetalis | II | ABO, Rh, Kell antibodies | mother's immune system attacks fetus | ||
Essential mixed cryoglobulinemia | |||||
Evan's syndrome | |||||
Fibrodysplasia ossificans progressiva | ACVR1 Lymphocytes express increased BMP4 | ||||
Fibrosing alveolitis (or Idiopathic pulmonary fibrosis) | SFTPA1, SFTPA2, TERT, and TERC.[36] | ||||
Gastritis | serum antiparietal and anti-IF antibodies | ||||
Gastrointestinal pemphigoid | Accepted | ||||
Glomerulonephritis | Sometimes | IgA | see Buerger's disease for IgA; Membranous glomerulonephritis for IgG; Membranoproliferative/mesangiocapillary GN (Complement activation); Goodpasture's syndrome; Wegener's granulomatosis | ||
Goodpasture's syndrome | Accepted[7] | II | Anti-Basement Membrane Collagen Type IV Protein | ||
Graves' disease | Accepted[7] | II | thyroid autoantibodies (TSHR-Ab) that activate the TSH-receptor (TSHR) | ||
Guillain-Barré syndrome (GBS) | Accepted[7] | IV | Anti-ganglioside | ||
Hashimoto's encephalopathy | Accepted[7] | IV | alpha-enolase[37] | ||
Hashimoto's thyroiditis | Accepted[7] | IV | antibodies against thyroid peroxidase and/or thyroglobulin | HLADR5, CTLA-4 | |
Henoch-Schonlein purpura | immunoglobulin A (IgA) and complement component 3 (C3) | ||||
Herpes gestationis aka Gestational Pemphigoid | IgG and C3 misdirected antibodies intended to protect the placenta | ||||
Hidradenitis suppurativa | Suspected[38] | ||||
Hughes-Stovin syndrome | |||||
Hypogammaglobulinemia | IGHM, IGLL1, CD79A, BLNK, LRRC8A, CD79B | ||||
Idiopathic inflammatory demyelinating diseases | a variant of multiple sclerosis | ||||
Idiopathic pulmonary fibrosis | SFTPA1, SFTPA2, TERT, and TERC.[36] | ||||
Idiopathic thrombocytopenic purpura (See Autoimmune thrombocytopenic purpura) | Accepted[7] | II | glycoproteins IIb-IIIa or Ib-IX, immunoglobulin G | ||
IgA nephropathy | III? | IgA produced from marrow rather than MALT | |||
Inclusion body myositis | similar to polymyositis but does not respond to steroid therapy-activated T8 cells | ||||
Chronic inflammatory demyelinating polyneuropathy | anti-ganglioside antibodies | similar to Guillain–Barré syndrome | |||
Interstitial cystitis | Suspected[39] | Mast cells | |||
Juvenile idiopathic arthritis aka Juvenile rheumatoid arthritis | inconsistent ANA Rheumatoid factor | ||||
Kawasaki's disease | Suspected | ITPKC HLA-B51 | |||
Lambert-Eaton myasthenic syndrome | voltage-gated calcium channels; Q-type calcium channel, synaptogagmin, muscarinic acetylcholine receptor M1 | HLA-DR3-B8 | |||
Leukocytoclastic vasculitis | |||||
Lichen planus | |||||
Lichen sclerosus | |||||
Linear IgA disease (LAD) | |||||
Lupoid hepatitis aka Autoimmune hepatitis | ANA and SMA,[40] LKM-1, LKM-2 or LKM-3; antibodies against soluble liver antigen[41][42] (anti-SLA, anti-LP) no autoantibodies detected (~20%)[citation needed] | ||||
Lupus erythematosus | Accepted[7] | III | Anti-nuclear antibodies[43] anti-Ro.[44] Also, they are often present in Sjögren's syndrome.[45][46]Eosinophilia[21] | ||
Majeed syndrome | LPIN2 | ||||
Ménière's disease | III? | major peripheral myelin protein P0[47] | |||
Microscopic polyangiitis | p-ANCA myeloperoxidase | binds to neutrophils causing them to degranulate and damages endothelium | |||
Miller-Fisher syndrome see Guillain-Barre Syndrome | Accepted | anti-GQ1b | |||
Mixed connective tissue disease | Accepted[7] | anti-nuclear antibody anti-U1-RNP | HLA-DR4 | ||
Morphea | Suspected[48] | ||||
Mucha-Habermann disease aka Pityriasis lichenoides et varioliformis acuta | T-cells | ||||
Multiple sclerosis | Accepted[49] | IV | Anti-Kir4.1 (heterogeneous)[49] | Autoantibody against potasium channel. Also invoved HLA-DR2, PECAM-1[50] Anti-myelin basic protein | |
Myasthenia gravis | Accepted[7] | II | nicotinic acetylcholine receptor MuSK protein | HA-B8 HLA-DR3 HLA-DR1 | |
Microscopic colitis | Suspected | ||||
Myositis | see Dermatomyositis and Polymyositis see Inclusion-body-myositis | ||||
Narcolepsy[51][52] | Accepted | II? | hypocretin or orexin[53] | HLA-DQB1*0602[54] | |
Neuromyelitis optica (also Devic's disease) | II? | NMO-IgG aquaporin 4.[55][56] | |||
Neuromyotonia | Suspected[57] | II? | voltage-gated potassium channels.[57] | ||
Occular cicatricial pemphigoid | II? | BP-1, BP-2 | C3 deposition | ||
Opsoclonus myoclonus syndrome | Suspected | IV? | Lymphocyte recruitment to CSF[58] | ||
Ord's thyroiditis | |||||
Palindromic rheumatism | anti-cyclic citrullinated peptide antibodies (anti-CCP) and antikeratin antibodies (AKA)[59] | ||||
PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcus) | Suspected | II? | antibodies against streptococcal infection serve as auto-antibodies | ||
Paraneoplastic cerebellar degeneration | IV?[60] II? | anti-Yo[61] (anti-cdr-2[62] in purkinje fibers) anti-Hu, anti-Tr, antiglutamate receptor | |||
Paroxysmal nocturnal hemoglobinuria (PNH) | Sometimes(?) | complement attacks RBCs | |||
Parry Romberg syndrome | ANA | ||||
Parsonage-Turner syndrome | |||||
Pars planitis | |||||
Pemphigus vulgaris | Accepted[7] | II | Anti-Desmoglein 3 eosinophilia[21] | ||
Pernicious anaemia | Accepted[63] | II | anti-parietal cell antibody | ||
Perivenous encephalomyelitis | |||||
POEMS syndrome | interleukin 1β, interleukin 6 and TNFα. vascular endothelial growth factor (VEGF), given the .[64] | ||||
Polyarteritis nodosa | |||||
Polymyalgia rheumatica | |||||
Polymyositis | Accepted[24] | IFN-gamma, IL-1, TNF-alpha | |||
Primary biliary cirrhosis | Accepted[65] | Anti-p62, Anti-sp100, Anti-Mitochondrial(M2)Anti-Ro aka SSA.[44] Also, they are often present in Sjögren's syndrome.[45][46] | |||
Primary sclerosing cholangitis | HLA-DR52a | overlap with primary biliary cirrhosis? | |||
Progressive inflammatory neuropathy | Suspected | ||||
Psoriasis | Accepted[66] | IV? | CD-8 T-cells, HLA-Cw6, IL-12b, IL-23b, TNFalpha, NF-κB | ||
Psoriatic arthritis | Accepted[67] | IV? | HLA-B27 | ||
Pyoderma gangrenosum | Can occur in conjunction with other immune-related disorders | ||||
Pure red cell aplasia | |||||
Rasmussen's encephalitis | anti-NR2A antibodies | ||||
Raynaud phenomenon | Suspected | Can occur in conjunction with other immune-related disorders | |||
Relapsing polychondritis | Accepted[68] | ||||
Reiter's syndrome | |||||
Restless leg syndrome | Suspected | May occur in Sjögren's syndrome, celiac disease, and rheumatoid arthritis or in derangements of iron metabolism | |||
Retroperitoneal fibrosis | |||||
Rheumatoid arthritis | Accepted[7] | III | Rheumatoid factor (anti-IgGFc), Anti-MCV, ACPAs(Vimentin | HLA-DR4, PTPN22, depleted B cells, TNF alpha, IL-17, (also maybe IL-1, 6, and 15) | |
Rheumatic fever | Accepted[69] | II | streptococcal M protein cross reacts with human myosin,[70] | ||
Sarcoidosis | Suspected | IV[71][72] | BTNL2; HLA-B7-DR15; HLA DR3-DQ2.[73] | ||
Schizophrenia | Suspected[74][75][76] | ||||
Schmidt syndrome another form of APS | anti-21 hydroxylase, anti-17 hydroxylase[77] | DQ2, DQ8 and DRB1*0404 | |||
Schnitzler syndrome | IgM? | ||||
Scleritis | |||||
Scleroderma | Suspected[48] | IV? | Scl-70 Anti-topoisomerase | dysregulated apoptosis? | |
Serum Sickness | III | ||||
Sjögren's syndrome | Accepted[7] | anti-Ro.[44] Also, they are often present in Sjögren's syndrome.[45][46] | |||
Spondyloarthropathy | HLA-B27 | ||||
Still's disease see Juvenile Rheumatoid Arthritis | ANA | macrophage migration inhibitory factor[78] | |||
Stiff person syndrome | Suspected | glutamic acid decarboxylase (GAD),[79] | GLRA1 (glycine receptor) | ||
Subacute bacterial endocarditis (SBE) | III [80] | essential mixed cryoglobulinemia | |||
Susac's syndrome | |||||
Sweet's syndrome | GCSF | ||||
Sydenham chorea see PANDAS | |||||
Sympathetic ophthalmia | ocular antigens following trauma | ||||
Systemic lupus erythematosus see Lupus erythematosus | III | ||||
Takayasu's arteritis | |||||
Temporal arteritis (also known as "giant cell arteritis") | Accepted[7] | IV | |||
Thrombocytopenia | II | glycoproteins IIb-IIIa or Ib-IX in ITP anti-ADAMTS13 in TTP.[81] and HUS anti-cardiolipin (anti-cardiolipin antibodies) and β2 glycoprotein I in Antiphospholipid syndrome anti-HPA-1a, anti-HPA-5b, and others[82] in NAIT | multiple mechanisms | ||
Tolosa-Hunt syndrome | |||||
Transverse myelitis | Accepted | Transverse Myelitis is a rare neurological disorder that is part of a spectrum of neuroimmunologic diseases of the central nervous system. http://www.myelitis.org/ | |||
Ulcerative colitis (one of two types of idiopathic inflammatory bowel disease "IBD") | Accepted[7] | IV | |||
Undifferentiated connective tissue disease different from Mixed connective tissue disease | Accepted | anti-nuclear antibody | HLA-DR4 | ||
Undifferentiated spondyloarthropathy | |||||
Urticarial vasculitis | II? | anti C1q antibodies[83] | clinically may resemble type I hypersensitivity! | ||
Vasculitis | Accepted[14] | III | sometimes ANCA | ||
Vitiligo | Suspected[84][85] | NALP-1 RERE, PTPN22, LPP, IL2RA, GZMB, UBASH3A and C1QTNF6 | |||
Wegener's granulomatosis | Accepted[86] | Anti-neutrophil cytoplasmic(cANCA) |
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.[87][88][89]
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リンク元 | 「自己免疫疾患」 |
拡張検索 | 「nervous system autoimmune disease」「CNS demyelinating autoimmune disease」「experimental nervous system autoimmune disease」 |
関連記事 | 「disease」 |
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