多腺性自己免疫症候群1型
WordNet
- write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
- a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
- (biology) the taxonomic group whose characteristics are used to define the next higher taxon
- a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
- all of the tokens of the same symbol; "the word `element contains five different types of character"
- printed characters; "small type is hard to read"
- identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- writing done with a typewriter (同)typewriting
- of or relating to the immune response of the body against substance normally present in the body
PrepTutorEJDIC
- 〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/02/13 15:48:38」(JST)
[Wiki en表示]
| Autoimmune polyendocrine syndrome type 1 |
| Classification and external resources |
| Specialty |
endocrinology |
| ICD-10 |
E31.0 |
| ICD-9-CM |
258.1 |
| OMIM |
240300 |
| DiseasesDB |
29212 |
| eMedicine |
med/1867 |
| MeSH |
D016884 |
|
[edit on Wikidata]
|
Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), autoimmune polyglandular syndrome, Whitaker syndrome,[1] or candidiasis-hypoparathyroidism-Addison's disease-syndrome,[2] is a subtype of autoimmune polyendocrine syndrome, in which multiple endocrine glands dysfunction as a result of autoimmunity. It is a genetic disorder inherited in autosomal recessive fashion due to a defect in the AIRE (Auto immune regulator) gene which is located on chromosome 21 and normally confers immune tolerance.
Contents
- 1 Signs and symptoms
- 2 Genetics
- 3 References
- 4 External links
Signs and symptoms
Its main features include:[citation needed]
- A mild immune deficiency, leading to persistent mucosal and cutaneous infections with candida yeasts. There is also decreased function of the spleen (hyposplenism).
- Autoimmune dysfunction of the parathyroid gland (leading to hypocalcaemia) and the adrenal gland (Addison's disease: hypoglycemia, hypotension and severe reactions in disease).
- Other disease associations are:
- hypothyroidism
- hypogonadism and infertility
- vitiligo (depigmentation of the skin)
- alopecia (baldness)
- malabsorption
- pernicious anemia
- chronic active (autoimmune) hepatitis
Genetics
It is caused in autosomal recessive manner due to a defect in AIRE gene mapped to 21q22.3.[3]
References
- ^ "Polyglandular Autoimmune Syndrome, Type I - eMedicine Endocrinology". Medscape. Retrieved 2009-04-17.
- ^ Greenspan, Francis S.; Gardner, David C. (2004). Basic clinical endocrinology. New York: McGraw-Hill. p. 103. ISBN 0-07-140297-7.
- ^ Buzi, F; Badolato, R; Mazza, C; Giliani, S; Notarangelo, LD; Radetti, G; Plebani, A; Notarangelo, LD (Jul 2003). "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?". The Journal of Clinical Endocrinology and Metabolism 88 (7): 3146–8. doi:10.1210/jc.2002-021495. PMID 12843157.
- Further reading
- Buzi, F; Badolato, R; Mazza, C; Giliani, S; Notarangelo, LD; Radetti, G; Plebani, A; Notarangelo, LD (Jul 2003). "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?". The Journal of Clinical Endocrinology and Metabolism 88 (7): 3146–8. doi:10.1210/jc.2002-021495. PMID 12843157.
- Peterson, P; Pitakanen, J; Sillanpaa, N; Krohn, K (2004). "Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity". Clinical and Experimental Immunology 135 (3): 348–357. doi:10.1111/j.1365-2249.2004.02384.x. PMC 1808970. PMID 15008965.
- Capalbo, Donatella; De Martino, Lucia; Giardino, Giuliana; Di Mase, Raffaella; Di Donato, Iolanda; Parenti, Giancarlo; Vajro, Pietro; Pignata, Claudio; Salerno, Mariacarolina (2012). "Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation". International Journal of Endocrinology 2012: 1–9. doi:10.1155/2012/353250.
External links
- Autoimmune polyglandular syndrome, type 1 on Genetics Home Reference
- EurAPS, a EU-funded consortium doing translational research on this condition
|
Hypersensitivity and autoimmune diseases (279.5–6)
|
|
Type I/allergy/atopy
(IgE) |
| Foreign |
- Atopic eczema
- Allergic urticaria
- Allergic rhinitis (Hay fever)
- Allergic asthma
- Anaphylaxis
- Food allergy
- common allergies include: Milk
- Egg
- Peanut
- Tree nut
- Seafood
- Soy
- Wheat
- Penicillin allergy
|
|
| Autoimmune |
|
|
|
Type II/ADCC
|
| Foreign |
- Hemolytic disease of the newborn
|
|
| Autoimmune |
| Cytotoxic |
- Autoimmune hemolytic anemia
- Immune thrombocytopenic purpura
- Bullous pemphigoid
- Pemphigus vulgaris
- Rheumatic fever
- Goodpasture's syndrome
- Guillain–Barré syndrome
|
|
| "Type V"/receptor |
- Graves' disease
- Myasthenia gravis
- Pernicious anemia
|
|
|
|
Type III
(Immune complex) |
| Foreign |
- Henoch–Schönlein purpura
- Hypersensitivity vasculitis
- Reactive arthritis
- Farmer's lung
- Post-streptococcal glomerulonephritis
- Serum sickness
- Arthus reaction
|
|
| Autoimmune |
- Systemic lupus erythematosus
- Subacute bacterial endocarditis
- Rheumatoid arthritis
|
|
|
Type IV/cell-mediated
(T cells) |
| Foreign |
- Allergic contact dermatitis
- Mantoux test
|
|
| Autoimmune |
- Diabetes mellitus type 1
- Hashimoto's thyroiditis
- Multiple sclerosis
- Coeliac disease
- Giant-cell arteritis
- Postorgasmic illness syndrome
- Reactive arthritis
|
|
| GVHD |
- Transfusion-associated graft versus host disease
|
|
|
Unknown/
multiple |
| Foreign |
- Hypersensitivity pneumonitis
- Allergic bronchopulmonary aspergillosis
- Transplant rejection
- Latex allergy (I+IV)
|
|
| Autoimmune |
- Sjögren's syndrome
- Autoimmune hepatitis
- Autoimmune polyendocrine syndrome
- Autoimmune adrenalitis
- Systemic autoimmune disease
|
|
|
|
Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies
|
|
| (1) Basic domains |
| 1.2 |
- Feingold syndrome
- Saethre–Chotzen syndrome
|
|
| 1.3 |
|
|
|
(2) Zinc finger
DNA-binding domains |
| 2.1 |
- (Intracellular receptor): Thyroid hormone resistance
- Androgen insensitivity syndrome
- Kennedy's disease
- PHA1AD pseudohypoaldosteronism
- Estrogen insensitivity syndrome
- X-linked adrenal hypoplasia congenita
- MODY 1
- Familial partial lipodystrophy 3
- SF1 XY gonadal dysgenesis
|
|
| 2.2 |
- Barakat syndrome
- Tricho–rhino–phalangeal syndrome
|
|
| 2.3 |
- Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome
- Denys–Drash syndrome
- Duane-radial ray syndrome
- MODY 7
- MRX 89
- Townes–Brocks syndrome
- Acrocallosal syndrome
- Myotonic dystrophy 2
|
|
| 2.5 |
- Autoimmune polyendocrine syndrome type 1
|
|
|
| (3) Helix-turn-helix domains |
| 3.1 |
- ARX
- Ohtahara syndrome
- Lissencephaly X2
- MNX1
- HOXD13
- PDX1
- LMX1B
- MSX1
- Tooth and nail syndrome
- OFC5
- PITX2
- POU4F3
- POU3F4
- ZEB1
- Posterior polymorphous corneal dystrophy
- Fuchs' dystrophy 3
- ZEB2
|
|
| 3.2 |
- PAX2
- PAX3
- PAX4
- PAX6
- Gillespie syndrome
- Coloboma of optic nerve
- PAX8
- Congenital hypothyroidism 2
- PAX9
|
|
| 3.3 |
- FOXC1
- Axenfeld syndrome 3
- Iridogoniodysgenesis, dominant type
- FOXC2
- Lymphedema–distichiasis syndrome
- FOXE1
- Bamforth–Lazarus syndrome
- FOXE3
- Anterior segment mesenchymal dysgenesis
- FOXF1
- FOXI1
- Enlarged vestibular aqueduct
- FOXL2
- Premature ovarian failure 3
- FOXP3
|
|
| 3.5 |
- IRF6
- Van der Woude syndrome
- Popliteal pterygium syndrome
|
|
|
(4) β-Scaffold factors
with minor groove contacts |
| 4.2 |
- Hyperimmunoglobulin E syndrome
|
|
| 4.3 |
- Holt–Oram syndrome
- Li–Fraumeni syndrome
- Ulnar–mammary syndrome
|
|
| 4.7 |
- Campomelic dysplasia
- MODY 3
- MODY 5
- SF1
- SRY XY gonadal dysgenesis
- Premature ovarian failure 7
- SOX10
- Waardenburg syndrome 4c
- Yemenite deaf-blind hypopigmentation syndrome
|
|
| 4.11 |
|
|
|
| (0) Other transcription factors |
|
|
| Ungrouped |
- TCF4
- ZFP57
- TP63
- Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8
|
|
| Transcription coregulators |
| Coactivator: |
- CREBBP
- Rubinstein–Taybi syndrome
|
|
| Corepressor: |
- HR (Atrichia with papular lesions)
|
|
|
UpToDate Contents
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English Journal
- Associated autoimmune diseases in children and adolescents with type 1 diabetes mellitus (T1DM).
- Kakleas K1, Soldatou A1, Karachaliou F2, Karavanaki K3.
- Autoimmunity reviews.Autoimmun Rev.2015 Sep;14(9):781-97. doi: 10.1016/j.autrev.2015.05.002. Epub 2015 May 20.
- Type 1 diabetes (T1DM) is an autoimmune disease with aberrant immune responses to specific β-cell autoantigens, resulting in insulin deficiency. Children and adolescents with T1DM may also develop organ-specific multiple autoimmunity in the context of APS (autoimmune polyendocrine syndrome) type 1,
- PMID 26001590
- Transglutaminase 4 as a prostate autoantigen in male subfertility.
- Landegren N1, Sharon D2, Shum AK3, Khan IS4, Fasano KJ4, Hallgren Å5, Kampf C6, Freyhult E7, Ardesjö-Lundgren B8, Alimohammadi M9, Rathsman S10, Ludvigsson JF11, Lundh D12, Motrich R13, Rivero V13, Fong L14, Giwercman A15, Gustafsson J16, Perheentupa J17, Husebye ES18, Anderson MS4, Snyder M19, Kämpe O5.
- Science translational medicine.Sci Transl Med.2015 Jun 17;7(292):292ra101. doi: 10.1126/scitranslmed.aaa9186.
- Autoimmune polyendocrine syndrome type 1 (APS1), a monogenic disorder caused by AIRE gene mutations, features multiple autoimmune disease components. Infertility is common in both males and females with APS1. Although female infertility can be explained by autoimmune ovarian failure, the mechanisms
- PMID 26084804
- Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
- Oftedal BE1, Hellesen A2, Erichsen MM3, Bratland E1, Vardi A4, Perheentupa J5, Kemp EH6, Fiskerstrand T7, Viken MK8, Weetman AP6, Fleishman SJ9, Banka S10, Newman WG10, Sewell WA11, Sozaeva LS12, Zayats T13, Haugarvoll K14, Orlova EM12, Haavik J13, Johansson S7, Knappskog PM7, Løvås K2, Wolff AS1, Abramson J4, Husebye ES15.
- Immunity.Immunity.2015 Jun 16;42(6):1185-96. doi: 10.1016/j.immuni.2015.04.021.
- The autoimmune regulator (AIRE) gene is crucial for establishing central immunological tolerance and preventing autoimmunity. Mutations in AIRE cause a rare autosomal-recessive disease, autoimmune polyendocrine syndrome type 1 (APS-1), distinguished by multi-organ autoimmunity. We have identified m
- PMID 26084028
Japanese Journal
- Reversible Cardiomyopathy Associated with Autoimmune Polyendocrine Syndrome Type II
- Hashimoto's Thyroiditis Concomitant with Sequential Autoimmune Hepatitis, Chorea and Polyserositis: A New Entity of Autoimmune Polyendocrine Syndrome?
★リンクテーブル★
[★]
- 英
- autoimmune polyendocrine syndrome type 1, autoimmune polyendocrine syndrome type I, polyglandular autoimmune syndrome type 1, polyglandular autoimmune syndrome type I, APS1, APS-1
- 関
- 自己免疫性多腺性内分泌不全症、シュミット症候群、多腺性自己免疫症候群2型、HAM症候群
- autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy, APECED
[show details]
概念
参考
- 1. AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1 - OMIM
- http://omim.org/240300
- 2. 多腺性自己免疫症候群 1 型と副甲状腺自己抗原 NALP5
- http://www.nankodo.co.jp/yosyo/xforeign/nejm/358/358mar/xf358-10-1018.htm
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- (windows)ファイル内容表示(linux -> cat])
- ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html
- 関
- form、mode、pattern、type specimen、typed
[★]
- 関
- form、mode、pattern、type
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