Please find the list of our recent JP Publications:
Erdős M, Lányi Á, Balázs G, Casanova JL, Boisson B, Maródi L. Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain.J
Clin Immunol. 2021. doi: 10.1007/s10875-020-00963-8.
J. Kolcava, J. Litzman, J. Bednarik, J. Stulik, P. Stourac.Neurological manifestation of immune system dysregulation resulting from CTLA-4 receptor mutation: a case report.
Mult Scler Relat Disord. 2020, Oct;45:102313. doi: 10.1016/j.msard.2020.102313. Epub 2020 Jun 21.PMID: 32623363
N. Brodszki A, Frazer-Abel, Grumach AS, Kirschfink M, Litzman J, Perez E, Seppänen MRJ, Sullivan KE, Jolles S.J. European Society for Immunodeficiencies (ESID) and European Reference Network European Society for Immunodeficiencies (ESID) and European 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.
Clin Immunol. 2020 May;40(4):576-591. doi: 10.1007/s10875-020-00754-1. Epub 2020 Feb 17.PMID: 32064578
P. Hujova, P. Soucek, L. Grodecka, H. Grombirikova, B. Ravcukova, P. Kuklinek, R. Hakl, J. Litzman, TJ. Freiberger. Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation.
Clin Immunol. 2020 Apr;40(3):435-446. doi: 10.1007/s10875-020-00753-2. Epub 2020 Jan 25.PMID: 31982983
E. Lovsin, J. Kovac, T. Tesovnik, N. Toplak, D. Perko, T. Rozmaric, M. Debeljak, T. Avcin. PIK3AP1 and SPON2 genes are differentially methylated in patients with periodic fever, aphthtous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome.
Frontiers in Immunology. 2020.doi: 10.3389/fimmu.2020.01322
A.Szczawińska-Popłonyk, R.Płoski, E. Bernatowska, M. Pac. A novel CDC42 mutation in a 11-old child manifesting as syndromic immunodeficiency, autoinflammation, hemophagocytic lymphohistiocytosis, and malignancy: a case report.
Frontiers in Immunology. 2020. doi: 10.3389/fimmu.2020.00318
M. Erdős, E. Jakobicz, B. Soltész, B. Tóth, Z. Bata-Csorgő, L. Maródi. Recurrent, severe aphthous staomatitis and mucosal ulcers as primary manifestations of a novel STAT1 gain-of-function mutation.
Frontiers in Immunology. 2020. doi:10.3389/fimmu.2020.00967
SO. Sharapova, M. Skomska-Pawliszak, YA. Rodina, B. Wolska-Kuśnierz, N. Dąbrowska-Leonik, B. Mikołuć et al. The clinical and genetic spectrum of 82 patients with RAG deficiency including Ac.256_257delAA founder variant in Slavic countries.
Frontiers in Immunology. 2020. doi: 10.3389/fimmu.2020.00900
AA Mukhina, NB Kuzmenko, YA Rodina, IV. Kondratenko, AA. Bologoy, TV. Latysheva et al. Primary Immunodeficiencies in Russia: Data from the National Registry.
Frontiers in Immunology, 2020. doi: 10.3389/fimmu.2020.01491
M. Pac, T. Bielecka, K. Grzela, J. Komarnicka, R. Langfort, S. Koltan et al. Interstitial Lung Disease in Children with Selected Primary Immunodeficiency Disorders – A Multicenter Observational Study.
Frontiers in Immunology. 2020. doi:10.3389/fimmu.2020.01950
M. Gizewska, K.Durda, T. Winter, I. Ostrowska, M. Ołtarzewski, J. Klein, O. Blankenstein, H. Romanowska, E. Krzywińska-Zdeb, M. Patalan, E. Bartkowiak, N.Szczerba, S. Seiberling, B. Birkenfeld, M. Nauck, H. von Bernuth, C. Meisel, E. Bernatowska, M. Walczak, M. Pac. Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience from the First 14 Months of Collaboration.
Frontiers in Immunology. 2020. doi:10.3389/fimmu.2020.01948
E. Bernatowska, M. Skomska-Pawliszak, B. Wolska-Kusnierz, M. Pac, E. Heropolitańska-Pliszka, B. Pietrucha et al. BCG Moreau vaccine safety profile and NK cells – double protection agains disseminated BCG infection in retrospective study of BCG vaccination in 52 Polish children with severe combined immune deficiency.
J Clin Immunol. 2020; 40:138-146.
Single-center report of antibody deficiencies in Azerbaijan.
The Journal of Immunology, 204 (1 Supplement)145.6; May1, 2020
IMMUNOLOGICAL AND GENETIC ASPECTS OF HEREDITARY ANTIBODY Deficiencies. Genetic confrance 2020 Baki
Phagocytic congenital immunodeficiency as a cause of mycobacterial infection. 6 Klinik Imunoloji Congress 31 October-1 NovemberAntalya Turkey 2020
ESID 2020 Online 14-17 October 2020 Two gene mutation in child with autoinflammatory disease
PID patients with Interleukin-12 receptor β1 (IL-12Rβ1) deficiency. USERN Meeting, Iran Tehran 7-14 November 2020 Online
Anadangəlmə İmmun Çatışmazlıqlı uşaqlarda vərəm xəstəliyinin erkən təzahürləri. ” Actual problems of medicine-2020″ Materials of international scientific-practical congress devoted to the 90-th anniversary of Azerbaijan Medical University
19-20 December 2020, p.206, Baku Azerbaijan
Hepatit virusu olan hərbi qulluqçularda sitokin statusunun xüsusiyyətləri. ” Actual problems of medicine-2020″ Materials of international scientific-practical congress devoted to the 90-th anniversary of Azerbaijan Medical University
19-20 December 2020, p.209, Baku Azerbaijan
You can download and read full publications here: Full Papers!
