- 同
- APECED
- 同
- APECED
WordNet
- any degenerative disorder resulting from inadequate or faulty nutrition
- an infection caused by fungi of the genus Monilia or Candida (especially Candida albicans) (同)moniliasis, monilia disease
- of or relating to the ectoderm (同)ectodermic
- the outer germ layer that develops into skin and nervous tissue (同)exoderm, ectoblast
PrepTutorEJDIC
- 栄養障害 / 筋萎縮症,筋ジストロフィー(筋肉の退化・萎縮・運動障害などが起こる病気)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/07/26 21:59:49」(JST)
[Wiki en表示]
| Autoimmune polyendocrine syndrome type 1 |
| Classification and external resources |
| ICD-10 |
E31.0 |
| ICD-9 |
258.1 |
| OMIM |
240300 |
| DiseasesDB |
29212 |
| eMedicine |
med/1867 |
| MeSH |
D016884 |
Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), 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 (2003 Jul). "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?". The Journal of clinical endocrinology and metabolism 88 (7): 3146–8. PMID 12843157.
- Further reading
- Buzi, F; Badolato, R; Mazza, C; Giliani, S; Notarangelo, LD; Radetti, G; Plebani, A; Notarangelo, LD (2003 Jul). "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?". The Journal of clinical endocrinology and metabolism 88 (7): 3146–8. 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
|
Endocrine pathology: endocrine diseases (E00–E35, 240–259)
|
|
Pancreas/
glucose
metabolism |
| Hypofunction |
- types:
- type 1
- type 2
- MODY 1 2 3 4 5 6
- complications
- coma
- angiopathy
- ketoacidosis
- nephropathy
- neuropathy
- retinopathy
- cardiomyopathy
- insulin receptor (Rabson–Mendenhall syndrome)
- Insulin resistance
|
|
| Hyperfunction |
- Hypoglycemia
- beta cell (Hyperinsulinism)
- G cell (Zollinger–Ellison syndrome)
|
|
|
Hypothalamic/
pituitary axes |
| Hypothalamus |
- gonadotropin
- Kallmann syndrome
- Adiposogenital dystrophy
- CRH (Tertiary adrenal insufficiency)
- vasopressin (Neurogenic diabetes insipidus)
- general (Hypothalamic hamartoma)
|
|
| Pituitary |
| Hyperpituitarism |
- anterior
- Acromegaly
- Hyperprolactinaemia
- Pituitary ACTH hypersecretion
- posterior (SIADH)
- general (Nelson's syndrome)
|
|
| Hypopituitarism |
- anterior
- Kallmann syndrome
- Growth hormone deficiency
- ACTH deficiency/Secondary adrenal insufficiency
- GnRH insensitivity
- FSH insensitivity
- LH/hCG insensitivity
- posterior (Neurogenic diabetes insipidus)
- general
- Empty sella syndrome
- Pituitary apoplexy
- Sheehan's syndrome
- Lymphocytic hypophysitis
|
|
|
| Thyroid |
| Hypothyroidism |
- Iodine deficiency
- Cretinism
- Congenital hypothyroidism
- Myxedema
- Euthyroid sick syndrome
|
|
| Hyperthyroidism |
- Hyperthyroxinemia
- Thyroid hormone resistance
- Familial dysalbuminemic hyperthyroxinemia
- Hashitoxicosis
- Thyrotoxicosis factitia
- Graves' disease
|
|
| Thyroiditis |
- Acute infectious
- Subacute
- De Quervain's
- Subacute lymphocytic
- Autoimmune/chronic
- Hashimoto's
- Postpartum
- Riedel's
|
|
| Goitre |
- Endemic goitre
- Toxic nodular goitre
- Toxic multinodular goiter
|
|
|
| Parathyroid |
| Hypoparathyroidism |
- Hypoparathyroidism
- Pseudohypoparathyroidism
- Pseudopseudohypoparathyroidism
|
|
| Hyperparathyroidism |
- Primary
- Secondary
- Tertiary
- Osteitis fibrosa cystica
|
|
|
| Adrenal |
| Hyperfunction |
- aldosterone: Hyperaldosteronism/Primary aldosteronism
- Conn syndrome
- Bartter syndrome
- Glucocorticoid remediable aldosteronism
- AME
- Liddle's syndrome
- 17α CAH
- cortisol: Cushing's syndrome (Pseudo-Cushing's syndrome)
- sex hormones: 21α CAH
- 11β CAH
|
|
Hypofunction/
Adrenal insufficiency
(Addison's, WF) |
- aldosterone: Hypoaldosteronism
|
|
|
| Gonads |
- ovarian: Polycystic ovary syndrome
- Premature ovarian failure
- testicular: enzymatic
- 5α-reductase deficiency
- 17β-hydroxysteroid dehydrogenase deficiency
- aromatase excess syndrome)
- Androgen receptor (Androgen insensitivity syndrome
- general: Hypogonadism (Delayed puberty)
- Hypergonadism
- Hypoandrogenism
- Hypoestrogenism
- Hyperandrogenism
- Hyperestrogenism
|
|
|
| Height |
- Dwarfism/Short stature
- Midget
- Laron syndrome
- Psychosocial
- Ateliosis
- Gigantism
|
|
| Multiple |
- Autoimmune polyendocrine syndrome multiple
- Carcinoid syndrome
- Multiple endocrine neoplasia
- Progeria
- Werner syndrome
- Acrogeria
- Metageria
- Woodhouse-Sakati syndrome
|
|
|
|
|
noco (d)/cong/tumr, sysi/epon
|
proc, drug (A10/H1/H2/H3/H5)
|
|
|
|
|
Immune disorders: 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
- Milk
- Egg
- Peanut
- Tree nut
- Seafood
- Soy
- Wheat
- Penicillin allergy
|
|
| Autoimmune |
|
|
|
Type II/ADCC
|
| Foreign |
- Pernicious anemia
- Hemolytic disease of the newborn
|
|
| Autoimmune |
| Cytotoxic |
- Autoimmune hemolytic anemia
- Idiopathic thrombocytopenic purpura
- Bullous pemphigoid
- Pemphigus vulgaris
- Rheumatic fever
- Goodpasture's syndrome
|
|
| "Type V"/receptor |
- Graves' disease
- Myasthenia gravis
|
|
|
|
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
- Guillain–Barré syndrome
- Multiple sclerosis
- Coeliac disease
- Giant-cell arteritis
|
|
| 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
|
|
|
|
|
cell/phys/auag/auab/comp, igrc
|
|
|
|
|
|
|
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)
|
|
|
See also transcription factors and intracellular receptors
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
|
|
UpToDate Contents
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English Journal
- Expanding the spectrum: chronic urticaria and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
- Lundberg C1, Martinez B2, Banks TA2.
- Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.Ann Allergy Asthma Immunol.2015 Apr;114(4):353-4. doi: 10.1016/j.anai.2015.01.014. Epub 2015 Feb 20.
- PMID 25707324
- Autoimmunity, not a developmental defect, is the cause for subfertility of Autoimmune regulator (Aire) deficient mice.
- Kekäläinen E1, Pöntynen N, Meri S, Petteri Arstila T, Jarva H.
- Scandinavian journal of immunology.Scand J Immunol.2015 Feb 17. doi: 10.1111/sji.12280. [Epub ahead of print]
- Autoimmune regulator's (AIRE) best characterized role is in the generation immunological tolerance but it is also involved in many other processes such as spermatogenesis. Loss-of-function mutations in AIRE cause a disease called Autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (
- PMID 25689230
- Immunogenetics of type 1 diabetes mellitus.
- Morran MP1, Vonberg A1, Khadra A2, Pietropaolo M3.
- Molecular aspects of medicine.Mol Aspects Med.2015 Jan 8. pii: S0098-2997(14)00079-X. doi: 10.1016/j.mam.2014.12.004. [Epub ahead of print]
- Type 1 diabetes mellitus (T1DM) is an autoimmune disease arising through a complex interaction of both genetic and immunologic factors. Similar to the majority of autoimmune diseases, T1DM usually has a relapsing remitting disease course with autoantibody and T cellular responses to islet autoantige
- PMID 25579746
Japanese Journal
- 多腺性自己免疫症候群 (特集 ここまでわかっている自己抗体と自己免疫疾患)
- Autoimmune Regulator (AIRE) Gene Is Expressed in Human Activated CD4^+ T-Cells and Regulated by Mitogen-Activated Protein Kinase Pathway
- Nagafuchi Seiho,Katsuta Hitoshi,Koyanagi-Katsuta Rimiko [他],YAMASAKI Satoshi,INOUE Yasushi,SHIMODA Kazuya,IKEDA Yukari,SHINDO Mieko,YOSHIDA Eiko,MATSUO Tomohito,OHNO Yuju,KOGAWA Kazuhiko,ANZAI Keizo,KURISAKI Hironori,KUDOH Jun,HARADA Mine,SHIMIZU Nobuyoshi
- Microbiology and immunology 50(12), 979-987, 2006-12-20
- NAID 10018639391
- Absence of Heterozygous K83E and R257X Mutations of the AIRE-1 Gene in 46 Children with Type 1 Diabetes and 44 Children with Graves' Disease
- Iwama Saika,Ikezaki Ayako,Matsuoka Hisafumi,Hoshi Mari,Sato Hirokazu,Miyamoto Shigeki,Sugihara Shigetaka
- Clinical pediatric endocrinology 14(1), 17-21, 2005-01-00
- NAID 110006794302
Related Links
- Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare autosomal recessive disease, caused by mutations of a single gene named autoimmune regulator gene (AIRE) which results in a ...
- autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), [MIM*240300] autoimmune and thymic disorder of childhood and young adulthood associated with many endocrinopathies such as hypoparathyroidism ...
Related Pictures
★リンクテーブル★
[★]
- (医)栄養失調、栄養失調症。(医)異栄養、異栄養症、ジフトロフィー
- 栄養障害。細胞や組織の物質代謝障害によって変性・萎縮などの起こること。
[★]
自己免疫性多腺性内分泌不全症
- 関
- polyglandular autoimmune syndrome type I、polyglandular autoimmune syndrome type II、Schmidt's syndrome
[★]
- 関
- ectoderm、ectomorphic
[★]
- (pl.)candidiase
[★]
外胚葉ジストロフィー