- 同
- anhidrotic ectodermal dysplasia with associated immunodeficiency
WordNet
- the 9th letter of the Roman alphabet (同)i
- (psychoanalysis) primitive instincts and energies underlying all psychic activity
- a card or badge used to identify the bearer; "you had to show your ID in order to get in" (同)I.D.
- the 5th letter of the Roman alphabet (同)e
PrepTutorEJDIC
- 『私は』私が
- iodineの化学記号
- イド(精神分析で無意識層にある本能的衝動の源泉)
UpToDate Contents
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English Journal
- Two-sided Ubiquitin Binding of NF-κB Essential Modulator (NEMO) Zinc Finger Unveiled by a Mutation Associated with Anhidrotic Ectodermal Dysplasia with Immunodeficiency Syndrome.
- Ngadjeua F, Chiaravalli J, Traincard F, Raynal B, Fontan E, Agou F.SourceFrom the Institut Pasteur, Unité de Biochimie Structurale et Cellulaire, Department of Structural Biology and Chemistry, CNRS, UMR 3528, 25/28 rue du Dr. Roux 75724 Paris cedex 15, France.
- The Journal of biological chemistry.J Biol Chem.2013 Nov 22;288(47):33722-37. doi: 10.1074/jbc.M113.483305. Epub 2013 Oct 7.
- Hypomorphic mutations in the X-linked human NEMO gene result in various forms of anhidrotic ectodermal dysplasia with immunodeficiency. NEMO function is mediated by two distal ubiquitin binding domains located in the regulatory C-terminal domain of the protein: the coiled-coil 2-leucine zipper (CC2-
- PMID 24100029
- Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation.
- Yoshioka T, Nishikomori R, Hara J, Okada K, Hashii Y, Okafuji I, Nodomi S, Kawai T, Izawa K, Ohnishi H, Yasumi T, Nakahata T, Heike T.SourceDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, 54 Shogoin Kawahara-cho, Sakyo, Kyoto, 606-8507, Japan.
- Journal of clinical immunology.J Clin Immunol.2013 Oct;33(7):1165-74. doi: 10.1007/s10875-013-9924-z. Epub 2013 Jul 18.
- PURPOSE: Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is characterized by hypohidrosis, dental abnormalities, sparse hair, and immunodeficiency. Autosomal dominant (AD)-EDA-ID, caused by a heterozygous mutation within NFKBIA, is very rare and its clinical features remain largely un
- PMID 23864385
- A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.
- Schimke LF, Rieber N, Rylaarsdam S, Cabral-Marques O, Hubbard N, Puel A, Kallmann L, Sombke SA, Notheis G, Schwarz HP, Kammer B, Hökfelt T, Repp R, Picard C, Casanova JL, Belohradsky BH, Albert MH, Ochs HD, Renner ED, Torgerson TR.SourceDepartment of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA 98101-1304, USA.
- Journal of clinical immunology.J Clin Immunol.2013 Aug;33(6):1088-99. doi: 10.1007/s10875-013-9906-1. Epub 2013 May 25.
- PURPOSE: This study reports the identification of a novel heterozygous IKBA missense mutation (p.M37K) in a boy presenting with ectodermal dysplasia with immunodeficiency (EDA-ID) who had wild type IKBKG gene encoding NEMO. Our aim was to characterize the clinical course of this IκB-α gain-of-func
- PMID 23708964
Japanese Journal
- Hypercalcemia FOllowing Umbilical Cord Blood Transplantation to Correct Osteopetrosis Associated with the Nemo Mutation
- Sasaki Shinya,Kamio Takuya,Kudo Ko [他],Sato Tomohiko,Tono Chikako,Takahashi Yoshihiro,Terui Kiminori,Ito Etsuro
- 弘前醫學 64(Supplement), S86-S89, 2013
- … X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency( XL-EDA-ID) is a congenital developmental and immunologic disorder, which often causes osteopetrosis. … We report a XL-EDA-ID patient with osteopetrosis who experienced hypercalcemia and resolution of bone changes after cord blood transplantation. …
- NAID 110009623619
Related Links
- Acronym Definition EDA-ID Ectodermal Dysplasia, Anhidrotic, with Immune Deficiency Want to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit the webmaster's page for free ...
- e-免疫.comは、原発性免疫不全症候群(Primary Immunodeficiency:PID)に関する情報をまとめた情報サイトです。繰り返す感染、長く続く風邪の症状、うちの子は体が弱いと言われるんだけど・・・そんな不安にお応えします。
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- 関
- dosage、dose、injected dose、input
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- 同
- anhidrotic ectodermal dysplasia
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