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{"id":1598,"date":"2021-02-08T07:25:53","date_gmt":"2021-02-08T07:25:53","guid":{"rendered":"https:\/\/www.thejpnetwork.com\/?p=1598"},"modified":"2021-02-17T20:11:26","modified_gmt":"2021-02-17T20:11:26","slug":"recent-jp-publications","status":"publish","type":"post","link":"https:\/\/www.thejpnetwork.com\/?p=1598","title":{"rendered":"Recent JP Publications (list)"},"content":{"rendered":"\n<p>Please find the list of our recent JP Publications:<\/p>\n\n\n\n<!--more-->\n\n\n\n<p><br><strong>Erd\u0151s M<\/strong>, L\u00e1nyi \u00c1, Bal\u00e1zs G, Casanova JL, Boisson B,\u00a0<strong>Mar\u00f3di L.<\/strong> Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain.J <br>Clin Immunol. 2021. doi: 10.1007\/s10875-020-00963-8.<\/p>\n\n\n\n<p>J. Kolcava, <strong>J. Litzman<\/strong>, J. Bednarik, J. Stulik, P. Stourac.Neurological manifestation of immune system dysregulation resulting from CTLA-4 receptor mutation: a case report. <br>Mult Scler Relat Disord. 2020, Oct;45:102313. doi: 10.1016\/j.msard.2020.102313. Epub \u00a02020 Jun 21.PMID:\u00a032623363<\/p>\n\n\n\n<p>N. Brodszki A, Frazer-Abel, Grumach AS, Kirschfink M,\u00a0<strong>Litzman J<\/strong>, Perez E, Sepp\u00e4nen \u00a0MRJ, Sullivan KE, Jolles S.J. European Society for Immunodeficiencies (ESID) and European Reference Network \u00a0European Society for Immunodeficiencies (ESID) and \u00a0\u00a0European Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) complement guideline: deficiencies, diagnosis, and management. Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management. <br>Clin Immunol. 2020 May;40(4):576-591. doi: 10.1007\/s10875-020-00754-1. Epub 2020 Feb 17.PMID:\u00a032064578\u00a0<\/p>\n\n\n\n<p>P. Hujova, P. Soucek, L. Grodecka, H. Grombirikova, B. Ravcukova, P. Kuklinek, R. Hakl,\u00a0 <strong>J. Litzman<\/strong>, TJ. Freiberger. Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through\u00a0\u00a0 Pseudoexon Activation. <br>Clin Immunol. 2020 Apr;40(3):435-446. doi: 10.1007\/s10875-020-00753-2. Epub 2020 Jan 25.PMID:\u00a031982983<\/p>\n\n\n\n<p>E. Lovsin, J. Kovac, T. Tesovnik, N. Toplak, D. Perko, T. Rozmaric, M. Debeljak, <strong>T. Avcin<\/strong>. PIK3AP1 and SPON2 genes are differentially methylated in patients with periodic fever, aphthtous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. <br>Frontiers in Immunology. 2020.doi: 10.3389\/fimmu.2020.01322<\/p>\n\n\n\n<p>A.Szczawi\u0144ska-Pop\u0142onyk, R.P\u0142oski, <strong>E. Bernatowska, M. Pac<\/strong>. A novel CDC42 mutation in a 11-old child manifesting as syndromic immunodeficiency, autoinflammation, hemophagocytic lymphohistiocytosis, and malignancy: a case report. <br>Frontiers in Immunology. \u00a02020. doi: 10.3389\/fimmu.2020.00318<\/p>\n\n\n\n<p><strong>M. Erd\u0151s<\/strong>, E. Jakobicz, B. Solt\u00e9sz, B. T\u00f3th, Z. Bata-Csorg\u0151, <strong>L. Mar\u00f3di<\/strong>. Recurrent, severe aphthous staomatitis and mucosal ulcers as primary manifestations of a novel STAT1 gain-of-function mutation.<br>Frontiers in Immunology. 2020. doi:10.3389\/fimmu.2020.00967\u00a0<\/p>\n\n\n\n<p><strong>SO. Sharapova, M. Skomska-Pawliszak<\/strong>, YA. Rodina, B. Wolska-Ku\u015bnierz, N. D\u0105browska-Leonik, B. Miko\u0142u\u0107 et al. The clinical and genetic spectrum of 82 patients with RAG deficiency including Ac.256_257delAA founder variant in Slavic countries.<br>Frontiers in Immunology. 2020. doi: 10.3389\/fimmu.2020.00900<\/p>\n\n\n\n<p>AA Mukhina, NB Kuzmenko, YA Rodina, <strong>IV. Kondratenko<\/strong>, AA. Bologoy, TV. Latysheva et al. Primary Immunodeficiencies in Russia: Data from the National Registry.<br>Frontiers in Immunology, 2020. doi: 10.3389\/fimmu.2020.01491<\/p>\n\n\n\n<p><strong>M. Pac<\/strong>, T. Bielecka, \u00a0K. Grzela, J. Komarnicka, R. Langfort, S. Koltan et al.\u00a0 Interstitial Lung Disease in Children with Selected Primary Immunodeficiency Disorders \u2013 A Multicenter Observational Study.<br>Frontiers in Immunology. 2020. doi:10.3389\/fimmu.2020.01950<\/p>\n\n\n\n<p>M. Gizewska, K.Durda, T. Winter, I. Ostrowska, M. O\u0142tarzewski, J. Klein, O. Blankenstein, H. Romanowska, E. Krzywi\u0144ska-Zdeb, M. Patalan, E. Bartkowiak, N.Szczerba, S. Seiberling, B. Birkenfeld, M. Nauck, H. von Bernuth, C. Meisel, <strong>E. Bernatowska<\/strong>, M. Walczak, <strong>M. Pac<\/strong>. Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience from the First 14 Months of Collaboration.<br>Frontiers in Immunology. 2020. doi:10.3389\/fimmu.2020.01948<\/p>\n\n\n\n<p><strong>E. Bernatowska, M. Skomska-Pawliszak<\/strong>, B. Wolska-Kusnierz, <strong>M. Pac<\/strong>, E. Heropolita\u0144ska-Pliszka, B. Pietrucha et al. BCG Moreau vaccine safety profile and NK cells \u2013 double \u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0protection agains disseminated BCG infection in retrospective study of BCG vaccination in 52 Polish children with severe combined immune deficiency.<br>J Clin Immunol. 2020; 40:138-146.\u00a0<\/p>\n\n\n\n<p>Single-center report of antibody deficiencies\u00a0in Azerbaijan.\u00a0<br>The Journal of Immunology, 204 (1 Supplement)145.6; May1, 2020<\/p>\n\n\n\n<p>IMMUNOLOGICAL AND GENETIC ASPECTS OF HEREDITARY ANTIBODY Deficiencies.\u00a0Genetic confrance 2020 Baki<\/p>\n\n\n\n<p>Phagocytic congenital immunodeficiency\u00a0\u00a0 as a cause of mycobacterial infection.\u00a0\u00a06 Klinik Imunoloji Congress 31 October-1 NovemberAntalya Turkey 2020<\/p>\n\n\n\n<p>ESID 2020 Online 14-17 October 2020\u00a0Two gene mutation in child with autoinflammatory disease<\/p>\n\n\n\n<p>PID\u00a0 patients with Interleukin-12 receptor \u03b21 (IL-12R\u03b21) deficiency. USERN Meeting,\u00a0Iran Tehran 7-14 November 2020 Online<\/p>\n\n\n\n<p>Anadang\u0259lm\u0259 \u0130mmun \u00c7at\u0131\u015fmazl\u0131ql\u0131 u\u015faqlarda v\u0259r\u0259m x\u0259st\u0259liyinin erk\u0259n t\u0259zah\u00fcrl\u0259ri.\u00a0&#8221; Actual problems of medicine-2020&#8243; Materials of international scientific-practical congress devoted to the 90-th anniversary\u00a0of Azerbaijan Medical University<br>19-20 December 2020, p.206, Baku Azerbaijan<\/p>\n\n\n\n<p>Hepatit virusu olan h\u0259rbi qulluq\u00e7ularda sitokin statusunun x\u00fcsusiyy\u0259tl\u0259ri.\u00a0&#8221; Actual problems of medicine-2020&#8243; Materials of international scientific-practical congress devoted to the 90-th anniversary\u00a0of Azerbaijan Medical University<br>19-20 December 2020, p.209, Baku Azerbaijan<\/p>\n\n\n\n<p><\/p>\n\n\n\n<p class=\"has-text-align-center\"><strong>You can download and read full publications here: <a rel=\"noreferrer noopener\" href=\"https:\/\/www.thejpnetwork.com\/?p=1363\" target=\"_blank\">Full Papers!<\/a><\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Please find the list of our recent JP Publications:<\/p>\n","protected":false},"author":1,"featured_media":811,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[5],"tags":[],"class_list":{"0":"post-1598","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-publications"},"_links":{"self":[{"href":"https:\/\/www.thejpnetwork.com\/index.php?rest_route=\/wp\/v2\/posts\/1598","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.thejpnetwork.com\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.thejpnetwork.com\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.thejpnetwork.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.thejpnetwork.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=1598"}],"version-history":[{"count":6,"href":"https:\/\/www.thejpnetwork.com\/index.php?rest_route=\/wp\/v2\/posts\/1598\/revisions"}],"predecessor-version":[{"id":1616,"href":"https:\/\/www.thejpnetwork.com\/index.php?rest_route=\/wp\/v2\/posts\/1598\/revisions\/1616"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.thejpnetwork.com\/index.php?rest_route=\/wp\/v2\/media\/811"}],"wp:attachment":[{"href":"https:\/\/www.thejpnetwork.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=1598"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.thejpnetwork.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=1598"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.thejpnetwork.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=1598"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}