Art

J-GLOBAL ID：202002235732738114   Reference number：20A0498472

Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB

IKBKBにおける新規突然変異を伴う遅発性臍帯分離と複合免疫不全を有する複数家族メンバー【JST・京大機械翻訳】

Author (10)： Alsum Zobaida (Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia) ,  AlZahrani Mofareh S. (Royal Commission Medical Center, Yanbu, Saudi Arabia) ,  Al-Mousa Hamoud (Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia) ,  Alkhamis Nouf (Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia) ,  Alsalemi Abdulkareem A. (Maternity and Children’s Hospital, Ministry of Health, Najran, Saudi Arabia) ,  Shamseldin Hanan E. (Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia) ,  Alkuraya Fowzan S. (Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia) ,  Alkuraya Fowzan S. (Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia) ,  Alkuraya Fowzan S. (Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia) ,  Alangari Abdullah A. (Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia)
Material： Frontiers in Pediatrics (Web)
Volume： 8  Page： 9  Publication year： 2020 
JST Material Number： U7090A  ISSN： 2296-2360  Document type： Article
Article type： 原著論文  Country of issue： Switzerland (CHE)  Language： ENGLISH (EN)

Abstract/Point： Background: Inhibitor of kappa...

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Thesaurus term： *umbilical cord ,  reconstitution ,  gene ,  Eumycetes ,  mortality ,  hematopoietic stem cell transplantation ,  NF-kappaB ,  mitogen ,  pathogenesis ,  bacterium ,  lymphocyte ,  Mycobacterium ,  *mutation
Semi thesaurus term： 重症感染症 ,  キナーゼ , 【Automatic Indexing@JST】

Author keywords (5)： inhibitor of kappa kinase beta/inhibitor of kappa kinase 2 ,  IKBKB ,  combined immunodeficiency ,  hematopoietic stem cell transplant ,  delayed separation of the umbilical cord

JST classification (1)： Congenital diseases,deformities in general.  (GD03010V)

Reference (14)：

• Pires BRB, Silva RCMC, Ferreira GM, Abdelhay E. NF-kappaB: two sides of the same coin. Genes. (2018) 9:24. doi: 10.3390/genes9010024
• Paciolla M, Pescatore A, Conte MI, Esposito E, Incoronato M, Lioi MB, et al. Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling. Genes and Immun. (2015) 16:239-46. doi: 10.1038/gene.2015.3
• Pannicke U, Baumann B, Fuchs S, Henneke P, Rensing-Ehl A, Rizzi M, et al. Deficiency of innate and acquired immunity caused by an IKBKB mutation. N Engl J Med. (2013) 369:2504-14. doi: 10.1056/NEJMoa1309199
• Burns SO, Plagnol V, Gutierrez BM, Alzahrani D, Curtis J. Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ. J Allergy Clin Immunol. (2014) 134:215-8. doi: 10.1016/j.jaci.2013.12.1093
• Nielsen C, Jakobsen MA, Larsen MJ, Müller AC, Hansen S, Lillevang ST, et al. Immunodeficiency associated with a nonsense mutation of IKBKB. J Clin Immunol. (2014) 34:916-21. doi: 10.1007/s10875-014-0097-1

Terms in the title (6)： 突然変異 ,  遅発性 ,  臍帯 ,  複合免疫不全 ,  家族 ,  メンバー