関: polyglandular autoimmune syndrome type I、polyglandular autoimmune syndrome type II、Schmidt's syndrome

WordNet

of or relating to the immune response of the body against substance normally present in the body

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/03/29 12:51:08」(JST)

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In medicine, autoimmune polyendocrine syndromes are a heterogeneous group^[1] of rare diseases characterised by autoimmune activity against more than one endocrine organs, although non-endocrine organs can be affected.

There are three "autoimmune polyendocrine syndromes", and a number of other diseases which have endocrine autoimmunity as one of their features.

The syndromes

Autoimmune polyendocrine syndrome type 1 (APECED or Whitaker's syndrome)
Autoimmune polyendocrine syndrome type 2 (Schmidt's syndrome)
The most serious but rarest form is the X-linked polyendocrinopathy, immunodeficiency and diarrhea-syndrome, also called XLAAD (X-linked autoimmunity and allergic dysregulation) or IPEX (immune dysfunction, polyendocrinopathy, and enteropathy, X-linked). This is due to mutation of the FOXP3 gene on the X chromosome.^[2] Most patients develop diabetes and diarrhea as neonates and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might suffer mild disease.

Other diseases

Other diseases featuring polyendocrine autoimmunity:

Chromosomal abnormalities (Down's syndrome) increase the risk of endocrine autoimmunity
POEMS syndrome - the E is for endocrinopathy; the cause is a paraprotein excreted by a plasmacytoma or multiple myeloma; other features are polyneuropathy, organomegaly (hepatomegaly and splenomegaly), M-protein (paraprotein) and skin changes.
Several^[which?] very rare diseases.

Management

In principle, the component diseases are managed as usual. The challenge is to detect the possibility of any of the above syndromes, and to anticipate other manifestations. For example, in a patient with known Type 2 autoimmune polyendocrine syndrome but no features of Addison's disease, regular screening for antibodies against 21-hydroxylase (a feature of Addison's) may prompt early intervention and hydrocortisone replacement to prevent characteristic crises.

References

^ Eisenbarth GS, Gottlieb PA (2004). "Autoimmune polyendocrine syndromes". N. Engl. J. Med. 350 (20): 2068–79. doi:10.1056/NEJMra030158. PMID 15141045.
^ Yong PL, Russo P, Sullivan KE (May 2008). "Use of Sirolimus in IPEX and IPEX-Like Children". J. Clin. Immunol. 28 (5): 581–7. doi:10.1007/s10875-008-9196-1. PMID 18481161.

UpToDate Contents

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1. IPEX：免疫不全，多腺性内分泌障害、腸疾患、X連鎖 ipex immune dysregulation polyendocrinopathy enteropathy x linked
2. 自己免疫の概要 overview of autoimmunity
3. 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
4. 混合性結合組織病における抗U1-RNP抗体 anti u1 rnp antibodies in mixed connective tissue disease
5. 混合性結合組織病の定義および診断 definition and diagnosis of mixed connective tissue disease

English Journal

A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED).

Fierabracci A, Bizzarri C, Palma A, Milillo A, Bellacchio E, Cappa M.SourceImmunology Area, Bambino Gesù Children's Hospital IRCCS, Rome, Italy. alessandra.fierabracci@opbg.net
Gene.Gene.2012 Dec 10;511(1):113-7. doi: 10.1016/j.gene.2012.09.029. Epub 2012 Sep 18.
BACKGROUND: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is an autosomal recessive disease due to mutations of the autoimmune regulator (AIRE) gene. Typical manifestations include candidiasis, Addison's disease, and hypoparathyroidism. Type 1 diabetes, alopecia, v
PMID 23000069

Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis.

Puel A, Cypowyj S, Maródi L, Abel L, Picard C, Casanova JL.SourceLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U980 and University Paris Descartes, Necker Medical School, Paris Sorbonne Cité, Paris, France.
Current opinion in allergy and clinical immunology.Curr Opin Allergy Clin Immunol.2012 Dec;12(6):616-22. doi: 10.1097/ACI.0b013e328358cc0b.
PURPOSE OF REVIEW: Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent symptomatic infection of the nails, skin and mucosae mostly by Candida albicans. CMC is common in patients with profound primary T-cell immunodeficiency, who often display multiple infectious and a
PMID 23026768

Japanese Journal

Regulatory T Cell and Nephrotic Syndrome

忍頂寺毅史,貝藤裕史,飯島一誠
Nihon Shoni Jinzobyo Gakkai Zasshi 25(2), 137-141, 2012
… It is known that Treg is responsible for the pathogenesis of many autoimmune diseases such as rheumatoid arthritis, systemic lupus erythematosus, and myasthenia gravis. … First case was immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome complicated by MCNS. … Second case was polyglandular autoimmune syndrome (PGA) complicated by INS. …
NAID 130003346841

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)

石井智弘,長谷川行洋
小児科診療 73(12), 2163-2167, 2010-12
NAID 40017380236

IPEX症候群とヒト Treg 細胞

大坪慶輔,金兼弘和,小林一郎,宮脇利男
日本臨床免疫学会会誌 = Japanese journal of clinical immunology 33(4), 196-206, 2010-08-31
… このTregの欠損や機能低下によって生じる疾患がIPEX (immune dysregulation, polyendocrinopathy, enteropathy, and X-linked）症候群である．この疾患は，I 型糖尿病や甲状腺機能低下症などの多発性内分泌異常，難治性下痢などを主症状とし，さらには自己免疫性と考えられる貧血，血小板減少，腎炎など多彩な症状を呈する． …
NAID 10027753662

Related Pictures

★リンクテーブル★

リンク元	「シュミット症候群」「自己免疫性多腺性内分泌不全症」「polyglandular autoimmune syndrome type II」
拡張検索	「autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy」

「シュミット症候群」

Autoimmune polyendocrine syndrome
	Classification and external resources
ICD-10	E31.0
ICD-9	258.1
OMIM	240300 269200
DiseasesDB	29212 29690
eMedicine	med/1867 med/1868
MeSH	D016884