関: Rheumatic disease

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an impairment of health or a condition of abnormal functioning
a paste-up made by sticking together pieces of paper or photographs to form an artistic image; "he used his computer to make a collage of pictures superimposed on a map" (同)montage
any collection of diverse things; "a collage of memories"
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(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
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(血液・樹液などを運ぶ)管の,導管の,血管の
病気にかかった / 病的な,不健全な(morbid)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/04/06 21:07:17」(JST)

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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]

Criteria

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 pathogenic antibody or pathogenic T cells
Indirect evidence based on reproduction of the autoimmune disease in experimental animals
Circumstantial evidence from clinical clues
Genetic architecture clustering with other autoimmune diseases

Effects of Autoimmune disease

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]

Classification

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.

This is an incomplete list, which may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries.

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 (one of two types of idiopathic inflammatory bowel disease "IBD")	Accepted^[7]	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.^[22]
Dermatitis herpetiformis			IgA Eosinophilia^[21]; anti-epidermal transglutaminase antibodies
Dermatomyositis	Accepted^[23]		histidine-tRNA anti-signal recognition peptide Anti-Mi-2 Anti-Jo1.^[24]	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^[25]	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>^[26]
Eczema				LEKTI, SPINK5,^[27] filaggrin.,^[28] Brain-derived neurotrophic factor (BDNF) and Substance P.^[29]
Endometriosis	Suspected^[30]
Enthesitis-related arthritis^[31]			.	MMP3^[32] TRLR2, TLR4,^[33] ERAP1^[34]
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.^[35]
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^[36]
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^[37]
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.^[35]
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^[38]			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,^[39] LKM-1, LKM-2 or LKM-3; antibodies against soluble liver antigen^[40]^[41] (anti-SLA, anti-LP) no autoantibodies detected (~20%)^{[citation needed]}
Lupus erythematosus	Accepted^[7]	III	Anti-nuclear antibodies^[42] anti-Ro.^[43] Also, they are often present in Sjögren's syndrome.^[44]^[45]Eosinophilia^[21]
Majeed syndrome				LPIN2
Ménière's disease		III?	major peripheral myelin protein P0^[46]
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^[47]
Mucha-Habermann disease aka Pityriasis lichenoides et varioliformis acuta				T-cells
Multiple sclerosis	Accepted^[48]	IV	Anti-Kir4.1 (heterogeneous)^[48]	Autoantibody against potasium channel. Also invoved HLA-DR2, PECAM-1^[49] Anti-myelin basic protein
Myasthenia gravis	Accepted^[7]	II	nicotinic acetylcholine receptor MuSK protein	HA-B8 HLA-DR3 HLA-DR1
Myositis				see Dermatomyositis and Polymyositis see Inclusion-body-myositis
Narcolepsy^[50]^[51]	Accepted	II?	hypocretin or orexin^[52]	HLA-DQB1*0602^[53]
Neuromyelitis optica (also Devic's disease)		II?	NMO-IgG aquaporin 4.^[54]^[55]
Neuromyotonia	Suspected^[56]	II?	voltage-gated potassium channels.^[56]
Occular cicatricial pemphigoid		II?	BP-1, BP-2	C3 deposition
Opsoclonus myoclonus syndrome	Suspected	IV?		Lymphocyte recruitment to CSF^[57]
Ord's thyroiditis
Palindromic rheumatism			anti-cyclic citrullinated peptide antibodies (anti-CCP) and antikeratin antibodies (AKA)^[58]
PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcus)	Suspected	II?		antibodies against streptococcal infection serve as auto-antibodies
Paraneoplastic cerebellar degeneration		IV?^[59] II?	anti-Yo^[60] (anti-cdr-2^[61] 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^[62]	II	anti-parietal cell antibody
Perivenous encephalomyelitis
POEMS syndrome				interleukin 1β, interleukin 6 and TNFα. vascular endothelial growth factor (VEGF), given the .^[63]
Polyarteritis nodosa
Polymyalgia rheumatica
Polymyositis	Accepted^[23]		IFN-gamma, IL-1, TNF-alpha
Primary biliary cirrhosis	Accepted^[64]		Anti-p62, Anti-sp100, Anti-Mitochondrial(M2)Anti-Ro aka SSA.^[43] Also, they are often present in Sjögren's syndrome.^[44]^[45]
Primary sclerosing cholangitis			HLA-DR52a	overlap with primary biliary cirrhosis?
Progressive inflammatory neuropathy	Suspected
Psoriasis	Accepted^[65]	IV?		CD-8 T-cells, HLA-Cw6, IL-12b, IL-23b, TNFalpha, NF-κB
Psoriatic arthritis	Accepted^[66]	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^[67]
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^[68]	II	streptococcal M protein cross reacts with human myosin,^[69]
Sarcoidosis	Suspected	IV^[70]^[71]		BTNL2; HLA-B7-DR15; HLA DR3-DQ2.^[72]
Schizophrenia	Suspected^[73]^[74]^[75]
Schmidt syndrome another form of APS			anti-21 hydroxylase, anti-17 hydroxylase^[76]	DQ2, DQ8 and DRB1*0404
Schnitzler syndrome				IgM?
Scleritis
Scleroderma	Suspected^[47]	IV?	Scl-70 Anti-topoisomerase	dysregulated apoptosis?
Serum Sickness		III
Sjögren's syndrome	Accepted^[7]		anti-Ro.^[43] Also, they are often present in Sjögren's syndrome.^[44]^[45]
Spondyloarthropathy				HLA-B27
Still's disease see Juvenile Rheumatoid Arthritis			ANA	macrophage migration inhibitory factor^[77]
Stiff person syndrome	Suspected		glutamic acid decarboxylase (GAD),^[78]	GLRA1 (glycine receptor)
Subacute bacterial endocarditis (SBE)		III ^[79]	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.^[80] and HUS anti-cardiolipin (anti-cardiolipin antibodies) and β₂ glycoprotein I in Antiphospholipid syndrome anti-HPA-1a, anti-HPA-5b, and others^[81] 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^[82]	clinically may resemble type I hypersensitivity!
Vasculitis	Accepted^[14]	III	sometimes ANCA
Vitiligo	Suspected^[83]^[84]			NALP-1 RERE, PTPN22, LPP, IL2RA, GZMB, UBASH3A and C1QTNF6
Wegener's granulomatosis	Accepted^[85]		Anti-neutrophil cytoplasmic(cANCA)

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.^[86]^[87]^[88]

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External links

Auto-immune disorders on the Open Directory Project

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 未分化型の全身性リウマチ性（結合組織）疾患およびオーバーラップ症候群 undifferentiated systemic rheumatic connective tissue diseases and overlap syndromes
2. 自己免疫の概要 overview of autoimmunity
3. 混合性結合組織病の定義および診断 definition and diagnosis of mixed connective tissue disease
4. 混合性結合組織病の臨床症状 clinical manifestations of mixed connective tissue disease
5. 抗核抗体の測定および臨床的意義 measurement and clinical significance of antinuclear antibodies

English Journal

An update on biomarkers in axial spondyloarthritis.

Prajzlerová K1, Grobelná K2, Pavelka K2, Šenolt L2, Filková M2.
Autoimmunity reviews.Autoimmun Rev.2016 Jun;15(6):501-9. doi: 10.1016/j.autrev.2016.02.002. Epub 2016 Feb 4.
Axial spondyloarthritis is a chronic inflammatory disease with the onset at a young age, and, if undiagnosed and untreated, it may result in permanent damage and lifelong disability. Rates of early diagnosis have improved, due in particular to the addition of magnetic resonance imaging into the diag
PMID 26851549

Improving the moisturizing properties of collagen film by surface grafting of chondroitin sulfate for corneal tissue engineering.

Liu Y1,2, Lv H1, Ren L2, Xue G3, Wang Y2.
Journal of biomaterials science. Polymer edition.J Biomater Sci Polym Ed.2016 Jun;27(8):758-72. doi: 10.1080/09205063.2016.1160561. Epub 2016 Mar 25.
Cornea disease is the second cause of blindness and keratoplasty is the most commonly performed option for visual rehabilitation of patients with corneal blindness. However, the clinical treatment has been drastically limited due to a severe shortage of high-quality donor corneas. Although collagen
PMID 26948819

Challenges and opportunities in treating inflammation associated with pulmonary hypertension.

Voelkel NF1, Tamosiuniene R2, Nicolls MR2.
Expert review of cardiovascular therapy.Expert Rev Cardiovasc Ther.2016 May 4:1-13. [Epub ahead of print]
INTRODUCTION: Inflammatory cells are present in the lungs from patients with many, if not all, forms of severe pulmonary hypertension. Areas covered: Historically the first inflammatory cell identified in the pulmonary vascular lesions was the mast cell. T and B lymphocytes, as well as macrophages,
PMID 27096622

Japanese Journal

BAL Fluid Concentrations of Cytokines in Patients with Nonspecific Interstitial Pneumonia, Usual Interstitial Pneumonia, Collagen Vascular Disease Associated with Interstitial Pneumonia, and Sarcoidosis

Fumiya Fukushima MD,Hirokuni Hirata MD PhD,Masamitsu Tatewaki MD,Yasutsugu Fukushima MD PhD,Kumiya Sugiyama MD PhD,Takeshi Fukuda MD PhD
Dokkyo journal of medical sciences 39(3), 161-172, 2012-10-25
… However, their individual roles in idiopathic interstitial pneumonitis (IIP) and inthe other types of interstitial pneumonitis (IP), including collagen vascular disease associated interstitialpneumonitis (CVD-IP), remain unknown. …
NAID 110009493151

膠原病関連肺疾患の画像診断 (特集呼吸器領域における画像診断の進歩)

徳田均
呼吸器内科 21(3), 209-215, 2012-03
NAID 40019281212

SLEと肺高血圧症 (特集肺高血圧症・肺血栓塞栓症の最新情報)

山崎宜興,水島万智子,山田秀裕
呼吸器内科 21(2), 145-153, 2012-02
NAID 40019233817

「collagen-vascular disease」

Autoimmune diseases
	Classification and external resources
ICD-10	D84.9, M35.9
ICD-9	279.4
OMIM	109100
DiseasesDB	28805
MedlinePlus	000816
MeSH	D001327

　　[★]

膠原病性脈管疾患、膠原血管病

「interstitial pneumonia associated with collagen vascular diseases」

　　[★] 膠原病性間質性肺炎

「disease」

　　[★]

n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

something that is very wrong with people's attitudes, way of life or with society.

関: ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

注意

disease ≠ illness ≠ disorder

「vascular」

　　[★]

adj.

(生物・解剖)導管の、脈管の、血管の

関: angio、blood vessel、fibrovascular bundle、vascular bundle、vasculogenic、vein、vessel

「vascular disease」

　　[★] 血管疾患、血管性疾患、血管病

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拡張検索	「collagen-vascular disease」「interstitial pneumonia associated with collagen vascular diseases」
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collagen vascular disease