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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

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(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

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/10/09 00:32:12」(JST)

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Omenn syndrome is an autosomal recessive severe combined immunodeficiency^[1] associated with hypomorphic missense mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells.

Symptoms

A 5-month-old female infant with Omenn syndrome; she has red, scaly skin all over her body.

The symptoms are very similar to graft-versus-host disease (GVHD). This is because the patients have some T cells with limited levels of recombination with the mutant RAG genes. These T cells are abnormal and have a very specific affinity for self antigens found in the thymus and in the periphery. Therefore, these T cells are auto-reactive and cause the GVHD phenotype.

A characteristic symptom is chronic inflammation of the skin, which appears as a red rash^[2] (early onset erythroderma). Other symptoms include eosinophilia, failure to thrive, swollen lymph nodes, swollen spleen, diarrhea, enlarged liver, low immunoglobulin levels (except immunoglobulin E, which is elevated), low T cell levels, and no B cells.^[3]

Genetics

Omenn syndrome has an autosomal recessive pattern of inheritance.

Omenn syndrome is caused by a partial loss of RAG gene function and leads to symptoms similar to severe combined immunodeficiency syndrome, including opportunistic infections. The RAG genes are essential for gene recombination in the T-cell receptor and B-cell receptor, and loss of this ability means that the immune system has difficult recognizing specific pathogens.^[2]

Omenn syndrome can occasionally be caused in other recombination genes, including IL-7Rα and RMRP.^[3]

Treatment

The only treatment for Omenn syndrome is bone marrow transplantation. Without treatment, it is rapidly fatal in infancy.^[2] The disease can be cured by bone marrow transplantation.^[3]

References

^ Santagata S, Villa A, Sobacchi C, Cortes P, Vezzoni P (2000). "The genetic and biochemical basis of Omenn syndrome". Immunol Rev. 178: 64–74. doi:10.1034/j.1600-065X.2000.17818.x. PMID 11213808.
^ ^a ^b ^c Parham, Peter (2009). The Immune System (3rd ed.). Taylor & Francis Group. ISBN 9781136977107.
^ ^a ^b ^c Geha, Raif; Notarangelo, Luigi (2012). Case Studies in Immunology: A Clinical Companion (6th ed.). Garland Science. ISBN 978-0-8153-4441-4.

UpToDate Contents

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1. T-B-NK+ SCID：病因および遺伝学 t b nk scid pathogenesis and genetics
2. T-B-NK+ SCID：臨床症状、診断、および治療 t b nk scid clinical manifestations diagnosis and treatment
3. 重度複合型免疫不全（SCID）：概要 severe combined immunodeficiency scid an overview
4. 新生児および乳児の紅皮症 neonatal and infantile erythroderma
5. 新生児における原発性免疫不全のスクリーニング newborn screening for primary immunodeficiencies

English Journal

Human blood outgrowth endothelial cells improve islet survival and function when co-transplanted in a mouse model of diabetes.

Coppens V, Heremans Y, Leuckx G, Suenens K, Jacobs-Tulleneers-Thevissen D, Verdonck K, Lahoutte T, Luttun A, Heimberg H, De Leu N.SourceDiabetes Research Center, Vrije Universiteit Brussel, Laarbeeklaan 103, 1090, Brussels, Belgium.
Diabetologia.Diabetologia.2013 Feb;56(2):382-90. doi: 10.1007/s00125-012-2754-3. Epub 2012 Oct 23.
AIMS/HYPOTHESIS: As current islet-transplantation protocols suffer from significant graft loss and dysfunction, strategies to sustain the long-term benefits of this therapy are required. Rapid and adequate oxygen and nutrient delivery by blood vessels improves islet engraftment and function. The pre
PMID 23090187

Identification of A Hydrophobic Domain in Varicella-Zoster Virus (VZV) ORF61 Necessary for ORF61 Self Interaction, Viral Replication and Skin Pathogenesis.

Wang L, Rajamani J, Sommer M, Zerboni L, Arvin AM.SourceDepartments of Pediatrics and Microbiology & Immunology, Stanford University School of Medicine, Stanford, California 94305, USA.
Journal of virology.J Virol.2013 Jan 23. [Epub ahead of print]
The VZV ORF61 protein is necessary for normal replication in vitro and virulence in human skin xenografts in the severe combined immunodeficiency mouse model in vivo. These experiments identify a hydrophobic domain that mediates ORF61 self-interaction. While not needed to inhibit host cell defenses,
PMID 23345513

Dyschromia Related to Severe Combined Immunodeficiency.

Maldonado-Cid P, Noguera-Morel L, Moreno-Alonso-de-Celada R, De-Lucas-Laguna R, Feito-Rodríguez M, Beato-Merino MJ, Casado-Jiménez M.SourceDepartments of *Dermatology †Pathology, Hospital Universitario La Paz, Madrid, Spain.
The American Journal of dermatopathology.Am J Dermatopathol.2013 Jan 16. [Epub ahead of print]
ABSTRACT:: Severe combined immunodeficiency includes a group of diseases characterized by different inherited immunological defects. A 4-month-old girl diagnosed with Omenn syndrome, a subtype of severe combined immunodeficiency presenting with generalized erythroderma, was referred to our hospital
PMID 23328788

Japanese Journal

Analysis of mutations and recombination activity in RAG-deficient patients

Asai Erika,Wada Taizo,Sakakibara Yasuhisa,Toga Akiko,Toma Tomoko,Shimizu Takashi,Nampoothiri Sheela,Imai Kohsuke,Nonoyama Shigeaki,Morio Tomohiro,Muramatsu Hideki,Kamachi Yoshiro,Ohara Osamu,Yachie Akihiro
Clinical Immunology 138(2), 172-177, 2011-02
… Herein, we report 5 cases of RAG deficiency from 5 families: 3 of Omenn syndrome, 1 of severe combined immunodeficiency, and 1 of combined immunodeficiency with oligoclonal TCRγδ+ T cells, autoimmunity and cytomegalovirus infection. …
NAID 120002772030

Omenn 症候群患児の臍帯血移植後に発症した Mycobacterium avium complex 感染症

若井公子,嶋田明,竹内紗耶香,富澤大輔,水谷修紀,木村博一,林泰秀
日本小児血液学会雑誌 22(2), 129-132, 2008-04-30
NAID 10025700589

Ｏｍｅｎｎ症候群患児の臍帯血移植後に発症したＭｙｃｏｂａｃｔｅｒｉｕｍ　ａｖｉｕｍ　ｃｏｍｐｌｅｘ感染症

若井公子,嶋田明,竹内紗耶香,富澤大輔,水谷修紀,木村博一,林泰秀
日本小児血液学会雑誌 22(2), 129-132, 2008
… Omenn症候群は, B細胞の欠損, 紅皮症, 肝脾腫, リンパ節腫大および脱毛を伴う先天性重症複合型免疫不全症である.われわれは, 生後6ヵ月に臍帯血移植を行ったが, 経過中, <I>Mycobacterium avium </I>complex (MAC) による腋窩と頸部リンパ節感染を主体とした非定型抗酸菌症に罹患した症例を経験した.MAC感染症に対し, 抗結核剤 (エタンブトールとリファンピシン), マクロライド系抗生剤 (クラリスロマイシンとアジスロマイ …
NAID 130004345980

Related Pictures

★リンクテーブル★

リンク元	「重症複合型免疫不全症」「オーメン症候群」
関連記事	「syndrome」

「重症複合型免疫不全症」

Omenn syndrome
Classification and external resources
Specialty	hematology
ICD-10	D81.2 (ILDS D81.210)
OMIM	603554
DiseasesDB	32676
eMedicine	ped/1640

　　[★]

英: severe combined immunodeficiency SCID severe combined immune deficiency severe combined immunodeficiency disease
同: リンパ球減少性低γグロブリン血症 lymphopenic hypogammaglobulinemia
関: 免疫不全症候群

[show details]

重症複合型免疫不全症 : 約 73,900 件
重症複合免疫不全症 : 約 66,300 件
重症複合型免疫不全症候群 : 34 件
重症複合免疫不全症候群 : 51 件

関

定義

T細胞の発生障害によるT細胞数の減少(CD4, CD8共に)と免疫グロブリン産生不全。
SCID(すきっど)
T細胞・B細胞の欠損・不全による免疫不全症の総称

SCIDに分類される疾患 (出典不明)

SCID (IMM.518)

Disease	Gene defect	Mechanism affected	Phenotype
Disease	Gene defect	Mechanism affected	T cell	B cell	NK cell
XSCID	IL-2 receptor γ chain(common gamma chain,)	Cytokine signaling	-	+	-
	JAK3		-	+	-
	IL-7 receptor		-	+	+
RAG deficiency Omenn syndrome	RAG1	Antigen receptor recombination	-	-	+
	RAG2		-	-	+
	Artemis		-	-	+
ADA deficiency	ADA	Metabolism	-	-	-

autosomal SCID

DNA-PKの欠損

電離放射線に感受性↑
B細胞↓、T細胞↓

Artemisの欠損

「オーメン症候群」

　　[★]

英: Omenn syndrome
同: Omenn症候群

T細胞やB細胞でおこる遺伝子再構成において、最初の段階で働く酵素RAG-1/RAG-2の機能欠損による
先天性疾患
重症複合免疫不全の一つの型

病因

母親由来のリンパ球による移植片対宿主病（GVHD）
組織球の腫瘍性浸潤によるリンパ組織の破壊

etc

治療

同種骨髄移植

参考

1. OMENN SYNDROME - OMIM

http://omim.org/entry/603554

「syndrome」

　　[★]

n.

症候群

[osone-1] Santagata S, Villa A, Sobacchi C, Cortes P, Vezzoni P (2000). "The genetic and biochemical basis of Omenn syndrome". Immunol Rev. 178: 64–74. doi:10.1034/j.1600-065X.2000.17818.x. PMID 11213808.

[Parham-2] Parham, Peter (2009). The Immune System (3rd ed.). Taylor & Francis Group. ISBN 9781136977107.

[Geha-3] Geha, Raif; Notarangelo, Luigi (2012). Case Studies in Immunology: A Clinical Companion (6th ed.). Garland Science. ISBN 978-0-8153-4441-4.

匿名

検索

案内

案内

Omenn syndrome