A Case Report of Respiratory Syncytial Virus-Infected 8p Inverted Duplication Deletion Syndrome with Low Natural Killer Cell Activity
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Published:2022
Issue:4
Volume:257
Page:347-352
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ISSN:0040-8727
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Container-title:The Tohoku Journal of Experimental Medicine
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language:en
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Short-container-title:Tohoku J. Exp. Med.
Author:
Tokutake Haruka1, Chiba Satoko1
Affiliation:
1. Department of Pediatrics, Hirosaki General Medical Center
Publisher
Tohoku University Medical Press
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Reference29 articles.
1. Chalifour, A., Jeannin, P., Gauchat, J.F., Blaecke, A., Malissard, M., N’Guyen, T., Thieblemont, N. & Delneste, Y.(2004) Direct bacterial protein PAMP recognition by human NK cells involves TLRs and triggers alpha-defensin production. Blood, 104, 1778-1783. 2. Chen, C.P., Ko, T.M., Huang, W.C., Chern, S.R., Wu, P.S., Chen, Y.N., Chen, S.W., Lee, C.C., Pan, C.W., Yang, C.W. & Wang, W.(2016) Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction. Taiwan. J. Obstet. Gynecol., 55, 415-418. 3. Dobbs, K., Dominguez Conde, C., Zhang, S.Y., Parolini, S., Audry, M., Chou, J., Haapaniemi, E., Keles, S., Bilic, I., Okada, S., Massaad, M.J., Rounioja, S., Alwahadneh, A.M., Serwas, N.K., Capuder, K., et al.(2015) Inherited DOCK2 deficiency in patients with early-onset invasive Infections. N. Engl. J. Med., 372, 2409-2422. 4. Floridia, G., Piantanida, M., Minelli, A., Dellavecchia, C., Bonaglia, C., Rossi, E., Gimelli, G., Croci, G., Franchi, F., Gilgenkrantz, S., Grammatico, P., Dalpra, L., Wood, S., Danesino, C. & Zuffardi, O.(1996) The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications. Am. J. Hum. Genet., 58, 785-796. 5. Ganz, T.(2003) Defensins: antimicrobial peptides of innate immunity. Nat. Rev. Immunol., 3, 710-720.
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