多腺性自己免疫症候群1型。autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/01/05 04:19:28」(JST)
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| 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 attributed to a defect in the AIRE gene that normally confers immune tolerance. It is inherited in a recessive fashion.
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 (asplenism).
- 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
References
- ^ "Polyglandular Autoimmune Syndrome, Type I - eMedicine Endocrinology". Medscape. http://emedicine.medscape.com/article/124183-overview. Retrieved 2009-04-17.
- ^ Greenspan, Francis S.; Gardner, David C. (2004). Basic clinical endocrinology. New York: McGraw-Hill. pp. 103. ISBN 0-07-140297-7.
External links
- EurAPS, a EU-funded consortium doing translational research on this condition
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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
- Laron syndrome
- Psychosocial
- Gigantism
|
|
| Multiple |
- Autoimmune polyendocrine syndrome
- 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 dermatitis · Allergic urticaria · Hay fever · Allergic asthma · Anaphylaxis · Food allergy (Milk, Egg, Peanut, Tree nut, Seafood, Soy, Wheat), Penicillin allergy
|
|
|
Autoimmune
|
none
|
|
|
Type II/ADCC
(IgM, IgG) |
|
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 5"/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 (APS1, APS2) · Autoimmune adrenalitis · Systemic autoimmune disease
|
|
|
|
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cell/phys/auag/auab/comp, igrc
|
|
|
|
|
|
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Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies
|
|
| (1) Basic domains |
1.2: Feingold syndrome · Saethre–Chotzen syndrome
1.3: Tietz syndrome
|
|
(2) Zinc finger
DNA-binding domains |
2.1 (Intracellular receptor): Thyroid hormone resistance · Androgen insensitivity syndrome (PAIS, MAIS, CAIS) · 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) · HLXB9 (Currarino syndrome) · HOXD13 (SPD1 Synpolydactyly) · IPF1 (MODY 4) · LMX1B (Nail–patella syndrome) · MSX1 (Tooth and nail syndrome, OFC5) · PITX2 (Axenfeld syndrome 1) · POU4F3 (DFNA15) · POU3F4 (DFNX2) · ZEB1 (Posterior polymorphous corneal dystrophy 3, Fuchs' dystrophy 3) · ZEB2 (Mowat–Wilson syndrome)
3.2: PAX2 (Papillorenal syndrome) · PAX3 (Waardenburg syndrome 1&3) · PAX4 (MODY 9) · PAX6 (Gillespie syndrome, Coloboma of optic nerve) · PAX8 (Congenital hypothyroidism 2) · PAX9 (STHAG3)
3.3: FOXC1 (Axenfeld syndrome 3, Iridogoniodysgenesis, dominant type) · FOXC2 (Lymphedema–distichiasis syndrome) · FOXE1 (Bamforth–Lazarus syndrome) · FOXE3 (Anterior segment mesenchymal dysgenesis) · FOXF1 (ACD/MPV) · FOXI1 (Enlarged vestibular aqueduct) · FOXL2 (Premature ovarian failure 3) · FOXP3 (IPEX)
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: Cleidocranial dysostosis
|
|
| (0) Other transcription factors |
0.6: Kabuki syndrome
|
|
| Ungrouped |
TCF4 (Pitt–Hopkins syndrome) · ZFP57 (TNDM1) · 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
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
|
|
UpToDate Contents
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English Journal
- APECED syndrome in childhood: clinical spectrum is enlarging.
- Valenzise M1, Alessi L, Bruno E, Cama V, Costanzo D, Genovese C, Mignosa C, Scuderi V, DE Luca F.
- Minerva pediatrica.Minerva Pediatr.2016 Jun;68(3):226-9. Epub 2014 Dec 12.
- Autoimmune polyendocrinopathy-candidiasis-ectodermal-distrophy (APECED) is a rare autosomal recessive disease, which is mainly characterized by the association of many autoimmune diseases, with a classic triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure
- PMID 25502918
- [Polyglandular autoimmune syndromes : An overview].
- Komminoth P1.
- Der Pathologe.Pathologe.2016 May;37(3):253-7. doi: 10.1007/s00292-016-0159-7.
- Polyglandular autoimmune syndromes (PGAS), also known as autoimmune polyendocrinopathy syndromes (APS), are a heterogeneous group of rare, genetically caused diseases of the immune system which lead to inflammatory damage of various endocrine glands resulting in malfunctions. In addition, autoimmune
- PMID 27099223
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran.
- Seifi-Alan M, Shamsi R, Setoodeh A, Sayarifard F, Aghasi P, Kompani F, Ghafouri-Fard S, Abbasi F.
- Journal of pediatric endocrinology & metabolism : JPEM.J Pediatr Endocrinol Metab.2016 Apr 22. pii: /j/jpem.ahead-of-print/jpem-2016-0017/jpem-2016-0017.xml. doi: 10.1515/jpem-2016-0017. [Epub ahead of print]
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named as autoimmune polyglandular syndrome (APS) type 1, is a rare autosomal recessive disorder caused by mutations in autoimmune regulator (AIRE) gene. It is distinguished by an immune-mediated damage of endocrine tissues
- PMID 27105486
Japanese Journal
- P1-009 APECEDおよびIPEX症候群における抗トリプトファン水酸化酵素-1抗体および抗AIE-75抗体の疾患特異性の検討
- 千田 奈津子,小林 一郎,植木 将弘,山崎 康博,竹崎 俊一郎,堀川 玲子,NOTARANGELO Luigi D,BETTERLE Corrado,山田 雅文,有賀 正
- 日本臨床免疫学会会誌 37(4), 335a-335a, 2014
- … 内分泌不全症（APECED）"のうち特に消化管機能障害を伴う患者に検出される．【目的】両疾患における各自己抗体の特異性を検討することを目的とした．【方法】リコンビナントAIE-75，GST-TPH-1，GST-villinを抗原とし，患者の血清中の自己抗体をウェスタンブロット法（WB）で解析した．血清は，既に免疫沈降法（IP）で抗TPH-1抗体陽性ないし陰性が確認されている各10例を含む計23例のAPECEDの患者と，7例 …
- NAID 130004694237
- W5-2 多彩な自己免疫疾患を呈するIPEX症候群
- 小林 一郎
- 日本臨床免疫学会会誌 37(4), 313a-313a, 2014
- … 併も知られる．診断にはFOXP3蛋白の細胞質内染色によるスクリーニングも用いられるが，最終診断には遺伝子解析を要する．治療にはステロイド薬とシクロスポリンないしタクロリムスの併用が有用であるが，造血幹細胞移植が唯一の根治的療法である．AIRE遺伝子変異によって中枢性免疫寛容の破綻を来すAPECEDとの標的自己抗原の違いは，中枢ないし末梢性免疫寛容への依存度が抗原によって異なる可能性を示唆する． …
- NAID 130004694221
- 中島 章人
- 順天堂医学 57(4), 329-335, 2011
- … 近年, 髄質胸腺上皮細胞に特異的に発現するAIRE (autoimmune regulator) という遺伝子が同定され, AIREは重篤な自己免疫疾患である自己免疫性多腺性内分泌不全症I型 (APECED) の発症と髄質内のネガティブセレクションに深く関係することが明らかになってきた. …
- NAID 130004712203
Related Links
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- 1. 原理 主として胸腺髄質上皮細胞に発現するAIREをコードする遺伝子の変異で生じる。この遺伝子は21番染色体(21q22.3)に存在し、APECEDは常染色体劣性遺伝形式をとる。ネガティブセレクションが起こるためには、他の特定の臓器にしか ...
Related Pictures
★リンクテーブル★
[★]
- 英
- immunodeficiency syndrome, immunodeficiency
- 同
- 免疫不全症、免疫不全 immune deficiency、immunodeficiency disease immunodeficiency disorder ID
- 関
- 先天性免疫不全症、原発性免疫不全症、免疫不全患者
先天性免疫不全症候群
- 抗体欠乏を主徴とする免疫不全症：B細胞の内因性欠陥またはT－B細胞相互間の異常により，抗体産生が障害された疾患群で，最も頻度が高い(原発性免疫不全症の約45%)
-
- 1. Wiskott-Aldrich症候群 WAS：血小板減少、免疫低下、湿疹。X連鎖劣性遺伝。WASpをコードする遺伝子の変異による。T細胞における免疫シナプス形成不全が本態。IgG,IgMは正常～低下、IgE, IgAは増加。リンパ球数は漸減。
- 2. DNA修復の欠陥
- 4. immuno-osseous dysplasia
- 6. 皮膚粘膜カンジダ症
- 7. 免疫不全を伴う肝静脈閉鎖症
- 8. Hoyerall-Hreidarsson症候群
-
- Chediak-Higashi症候群 CHS：好中球機能低下、NK細胞機能低下、白子症。常染色体劣性遺伝。細胞内輸送蛋白(CHS1)の調節の異常により巨大顆粒の形成、殺菌性蛋白・溶菌性酵素の食胞内放出が障害される。
- ADA欠損症
- RAG-1/2欠損症：TCR,BCRの遺伝子再構成において、RSSの認識と切断に関わるリコンビナーゼを欠損
- Artemis欠損症：TCR,BCRの遺伝子再構成において、RAGによる切断末端の修復に関わる酵素Artemisの欠損
- LIG IV欠損症
- TREC定量
- CVID/IgA欠損症
- 補体欠損症
- 若年性サルコイドーシス
- CINCA症候群
- 家族性地中海熱
- TNF受容体関連周期熱症候群
- HyperIgD症候群
免疫不全症に伴う反復感染の病原体
- 細菌性 → 抗体、補体、貪食細胞の欠損・障害
- 真菌性、ウイルス性 → T細胞の欠損・障害
免疫不全症に伴う感染症
- 1. 体液性免疫不全：B細胞欠損、Ig欠損・機能不全
- 重症感染症
- 侵襲性の強いグラム陽性菌による肺炎、敗血症、髄膜炎、中耳炎
- Stapylococcus pneumonia, Stapylococcus pyrogens, Haemophilis influenzae
- 日和見感染を起こす
- 1) 重症感染症
- 侵襲性の弱いグラム陰性菌による肺炎、敗血症、皮膚感染症
- Psudomonas, Escherichia coli, Seratia
- 2) ウイルス感染
- cytomegalovirus, helpes simplex virus, varicela zoaster virus
- 3) 真菌感染
- Candida albicans, cryptococcus, aspergillus
- 4) 原虫
- 3. 複合型免疫不全症(体液性免疫と細胞性免疫の両方の異常)
- SCID
- ①＋②
- 細菌感染症による肺炎、皮膚炎、化膿性リンパ節炎 → 重症ではない
参考
- http://mymed.jp/di/d42.html
[★]
- 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
[★]
- 同
- APECED
- 同
- APECED
[★]
- 同
- autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome