WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
the 9th letter of the Roman alphabet (同)i

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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
『私は』私が
iodineの化学記号

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/07/19 11:54:56」(JST)

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ICF syndrome (or Immunodeficiency, Centromere instability and Facial anomalies syndrome)^[1] is a very rare autosomal recessive^[2] immune disorder.

Characteristics[edit]

It is characterized by variable reductions in serum immunoglobulin levels which cause most ICF patients to succumb to infectious diseases before adulthood. ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia.

Genetics[edit]

Immunodeficiency–centromeric instability–facial anomalies syndrome has an autosomal recessive pattern of inheritance.

ICF syndrome can be caused by a mutation in the DNA-methyltransferase-3b (Dnmt3b) gene, located on chromosome 20q11.2.^[3]^[4] The disease is inherited in an autosomal recessive manner.^[2]

References[edit]

^ Online 'Mendelian Inheritance in Man' (OMIM) 242860
^ ^a ^b Brown, Dc; Grace, E; Sumner, At; Edmunds, At; Ellis, Pm (October 1995). "ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome". Human Genetics 96 (4): 411–6. doi:10.1007/BF00191798. PMID 7557962.
^ Jiang, Yl; Rigolet, M; Bourc'His, D; Nigon, F; Bokesoy, I; Fryns, Jp; Hultén, M; Jonveaux, P; Maraschio, P; Mégarbané, A; Moncla, A; Viegas-Péquignot, E (January 2005). "DNMT3B mutations and DNA methylation defect define two types of ICF syndrome". Human Mutation 25 (1): 56–63. doi:10.1002/humu.20113. PMID 15580563.
^ Online 'Mendelian Inheritance in Man' (OMIM) 602900

External links[edit]

Orphanet Journal of Rare Diseases link to ICF syndrome [1]

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1. 症候群をきたす免疫不全症 syndromic immunodeficiencies

English Journal

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

Chouery E, Abou-Ghoch J, Corbani S, El Ali N, Korban R, Salem N, Castro C, Klayme S, Azoury-Abou Rjeily M, Khoury-Matar R, Debo G, Germanos-Haddad M, Delague V, Lefranc G, Mégarbané A.SourceUnité de Génétique Médicale et Laboratoire Associé INSERM à l'unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Faculté de Médecine de la Timone, Inserm, Université de la Méditerranée, Marseille, France Hotel-Dieu de France Hospital, Beirut, Lebanon Institut de Génétique Humaine, Université Montpellier 2, and CNRS UPR 1142, Montpellier, France Institut Jérôme Lejeune, Paris, France.
Clinical genetics.Clin Genet.2012 Nov;82(5):489-493. doi: 10.1111/j.1399-0004.2011.01783.x. Epub 2011 Oct 5.
Chouery E, Abou-Ghoch J Corbani S, El Ali N, Korban R, Salem N, Castro C, Klayme S, Azoury-Abou Rjeily M, Khoury-Matar R, Debo G, Germanos-Haddad M, Delague V, Lefranc G, Mégarbané A. A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomali
PMID 21906047

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.

Lana E, Mégarbané A, Tourrière H, Sarda P, Lefranc G, Claustres M, De Sario A.Source1] INSERM U827, Montpellier, France [2] Université Montpellier 1, Montpellier, France.
European journal of human genetics : EJHG.Eur J Hum Genet.2012 Oct;20(10):1044-50. doi: 10.1038/ejhg.2012.41. Epub 2012 Feb 29.
ICF syndrome is a rare autosomal recessive disorder that is characterized by Immunodeficiency, Centromeric instability, and Facial anomalies. In all, 60% of ICF patients have mutations in the DNMT3B (DNA methyltransferase 3B) gene, encoding a de novo DNA methyltransferase. In ICF cells, constitutive
PMID 22378288

Japanese Journal

特発性慢性疲労に酸棗仁湯加減が奏効した1例

小暮敏明,巽武司,岸大次郎,奥裕子,重田哲哉
日本東洋醫學雜誌 = Japanese journal of oriental medicine 61(5), 727-731, 2010-07-20
… 今回我々は，特発性慢性疲労（ICF）の患者に対して酸棗仁湯加黄耆麦門冬が奏効した症例を経験した。 … いわゆるICFに分類される症例で不眠傾向を伴うことから，酸棗仁湯加黄耆麦門冬を投与した。 … ICFに対して酸棗仁湯は鑑別に挙げられてよい方剤と考えられた。 …
NAID 10026567458