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Items: 1 to 20 of 23

1.

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A.

J Exp Med. 2020 Jun 1;217(6). pii: e20191804. doi: 10.1084/jem.20191804.

PMID:
32207811
2.

Correction to: Primary immunodeficiencies in Central and Eastern Europe-the power of networking Report on the activity of the Jeffrey Modell Foundation Centers Network in Central and Eastern Europe.

Sediva A, Bataneant M, Belevtsev M, Blaziene A, Ciznar P, Förster-Waldl E, Kelecic J, Marodi J, Naumova E, Nasrullayeva G, Ress K, Serban M, Sitkauskiene B, Toth B, Modell V, Modell F, Tenembaum V, Marković M, Avcin T.

Immunol Res. 2020 Feb 4. doi: 10.1007/s12026-020-09116-w. [Epub ahead of print]

PMID:
32020506
3.

Primary immunodeficiencies in Central and Eastern Europe-the power of networking Report on the activity of the Jeffrey Modell Foundation Centers Network in Central and Eastern Europe.

Sediva A, Bataneant M, Belevtsev M, Blaziene A, Ciznar P, Förster-Waldl E, Kelecic J, Marodi J, Naumova E, Nasrullayeva G, Ress K, Serban M, Sitkaustiene B, Toth B, Modell V, Modell F, Tenembaum V, Marković M, Avcin T.

Immunol Res. 2019 Oct;67(4-5):358-367. doi: 10.1007/s12026-019-09093-9. Erratum in: Immunol Res. 2020 Feb 4;:.

PMID:
31515711
4.

Fifteen Years of the J Project.

Maródi L; J Project study group.

J Clin Immunol. 2019 May;39(4):363-369. doi: 10.1007/s10875-019-00633-4. Epub 2019 May 17. No abstract available.

PMID:
31102035
5.

Dynamics of allergy development during the first 5 years of life.

Vrbova M, Dorociakova P, Vyskovsky R, Palkovicova Murinova L, Ciznar P, Rausova K, McNabb SJN, Reichrtova E, Budinska E, Thon V.

Eur J Pediatr. 2018 Sep;177(9):1317-1325. doi: 10.1007/s00431-018-3188-9. Epub 2018 Jun 22.

PMID:
29934773
6.

Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia.

Geier CB, Piller A, Eibl MM, Ciznar P, Ilencikova D, Wolf HM.

Clin Immunol. 2017 Oct;183:41-45. doi: 10.1016/j.clim.2017.07.003. Epub 2017 Jul 10.

PMID:
28705765
7.

Impact of interleukin 13 (IL13) genetic polymorphism Arg130Gln on total serum immunoglobulin (IgE) levels and interferon (IFN)-γ gene expression.

Smolkova B, Tulinska J, Palkovicova Murinova L, Buocikova V, Liskova A, Rausova K, Kuricova M, Patayova H, Sustrova M, Neubauerova Svorcova E, Ilavska S, Szabova M, Nemessanyi T, Jahnova E, Dusinska M, Ciznar P, Fuortes L.

Clin Exp Immunol. 2017 Apr;188(1):45-52. doi: 10.1111/cei.12923. Epub 2017 Feb 7.

8.

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

Conti F, Lugo-Reyes SO, Blancas Galicia L, He J, Aksu G, Borges de Oliveira E Jr, Deswarte C, Hubeau M, Karaca N, de Suremain M, Guérin A, Baba LA, Prando C, Guerrero GG, Emiroglu M, Öz FN, Yamazaki Nakashimada MA, Gonzalez Serrano E, Espinosa S, Barlan I, Pérez N, Regairaz L, Guidos Morales HE, Bezrodnik L, Di Giovanni D, Dbaibo G, Ailal F, Galicchio M, Oleastro M, Chemli J, Danielian S, Perez L, Ortega MC, Soto Lavin S, Hertecant J, Anal O, Kechout N, Al-Idrissi E, ElGhazali G, Bondarenko A, Chernyshova L, Ciznar P, Herbigneaux RM, Diabate A, Ndaga S, Konte B, Czarna A, Migaud M, Pedraza-Sánchez S, Zaidi MB, Vogt G, Blanche S, Benmustapha I, Mansouri D, Abel L, Boisson-Dupuis S, Mahlaoui N, Bousfiha AA, Picard C, Barbouche R, Al-Muhsen S, Espinosa-Rosales FJ, Kütükçüler N, Condino-Neto A, Casanova JL, Bustamante J.

J Allergy Clin Immunol. 2016 Jul;138(1):241-248.e3. doi: 10.1016/j.jaci.2015.11.041. Epub 2016 Feb 28.

PMID:
26936803
9.

Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.

Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, Piątosa B, Pietrucha B, Heropolitańska-Pliszka E, Pac M, Klaudel-Dreszler M, Kostyuchenko L, Pasic S, Marodi L, Belohradsky BH, Čižnár P, Shcherbina A, Kilic SS, Baumann U, Seidel MG, Gennery AR, Syczewska M, Mikołuć B, Kałwak K, Styczyński J, Pieczonka A, Drabko K, Wakulińska A, Gathmann B, Albert MH, Skarżyńska U, Bernatowska E; Inborn Errors Working Party of the Society for European Blood and Marrow Transplantation and the European Society for Immune Deficiencies.

J Clin Immunol. 2015 Aug;35(6):538-49. doi: 10.1007/s10875-015-0186-9. Epub 2015 Aug 14.

PMID:
26271390
10.

Europe immunoglobulin map.

Šedivá A, Chapel H, Gardulf A; European Immunoglobulin Map Group (35 European Countries) for European Society for Immunodeficiencies (ESID) Primary Immunodeficiencies Care in Development Working Party.

Clin Exp Immunol. 2014 Dec;178 Suppl 1:141-3. doi: 10.1111/cei.12546. No abstract available.

11.

The European Society for Immunodeficiencies (ESID) registry 2014.

Grimbacher B; ESID Registry Working Party.

Clin Exp Immunol. 2014 Dec;178 Suppl 1:18-20. doi: 10.1111/cei.12496. No abstract available.

12.

Systemic Listeria monocytogenes infection in a 2-year-old immunocompetent child.

Lobotková D, Dická E, Rolný V, Stankovič I, Čižnár P.

Infection. 2014 Dec;42(6):1055-9. doi: 10.1007/s15010-014-0655-8. Epub 2014 Jul 25.

PMID:
25060681
13.

Clinical picture and treatment of 2212 patients with common variable immunodeficiency.

Gathmann B, Mahlaoui N; CEREDIH, Gérard L, Oksenhendler E, Warnatz K, Schulze I, Kindle G, Kuijpers TW; Dutch WID, van Beem RT, Guzman D, Workman S, Soler-Palacín P, De Gracia J, Witte T, Schmidt RE, Litzman J, Hlavackova E, Thon V, Borte M, Borte S, Kumararatne D, Feighery C, Longhurst H, Helbert M, Szaflarska A, Sediva A, Belohradsky BH, Jones A, Baumann U, Meyts I, Kutukculer N, Wågström P, Galal NM, Roesler J, Farmaki E, Zinovieva N, Ciznar P, Papadopoulou-Alataki E, Bienemann K, Velbri S, Panahloo Z, Grimbacher B; European Society for Immunodeficiencies Registry Working Party.

J Allergy Clin Immunol. 2014 Jul;134(1):116-26. doi: 10.1016/j.jaci.2013.12.1077. Epub 2014 Feb 28.

PMID:
24582312
14.

The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database.

Schatorjé EJ, Gathmann B, van Hout RW, de Vries E; PedPAD consortium.

Clin Exp Immunol. 2014 Jun;176(3):387-93. doi: 10.1111/cei.12281.

15.

Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome.

Patel K, Akhter J, Kobrynski L, Benjamin Gathmann MA, Davis O, Sullivan KE; International DiGeorge Syndrome Immunodeficiency Consortium.

J Pediatr. 2012 Nov;161(5):950-3. doi: 10.1016/j.jpeds.2012.06.018. Epub 2012 Jul 17. Erratum in: J Pediatr. 2013 Mar;162(3):658. Gathman, Benjamin [corrected to Benjamin Gathmann, M A].

PMID:
22809661
16.

Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.

Ter Haar N, Lachmann H, Özen S, Woo P, Uziel Y, Modesto C, Koné-Paut I, Cantarini L, Insalaco A, Neven B, Hofer M, Rigante D, Al-Mayouf S, Touitou I, Gallizzi R, Papadopoulou-Alataki E, Martino S, Kuemmerle-Deschner J, Obici L, Iagaru N, Simon A, Nielsen S, Martini A, Ruperto N, Gattorno M, Frenkel J; Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever/Eurotraps Projects.

Ann Rheum Dis. 2013 May;72(5):678-85. doi: 10.1136/annrheumdis-2011-201268. Epub 2012 Jun 29. Review.

17.

Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update.

de Vries E; European Society for Immunodeficiencies (ESID) members.

Clin Exp Immunol. 2012 Jan;167(1):108-19. doi: 10.1111/j.1365-2249.2011.04461.x. Review.

18.

The creation and progress of the J Project in Eastern and Central Europe.

Maródi L; J Project Study Group.

Ann N Y Acad Sci. 2011 Nov;1238:65-73. doi: 10.1111/j.1749-6632.2011.06247.x.

PMID:
22129054
19.

Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey.

Toplak N, Dolezalovà P, Constantin T, Sedivà A, Pašić S, Cižnar P, Wolska-Kuśnierz B, Harjaček M, Stefan M, Ruperto N, Gattorno M, Avčin T; Eastern/Central European autoinflammatory collaborating group for the Paediatric Rheumatology International Trials Organization (PRINTO) and Eurofever Project.

Pediatr Rheumatol Online J. 2010 Dec 2;8:29. doi: 10.1186/1546-0096-8-29.

20.

The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008.

Gathmann B, Grimbacher B, Beauté J, Dudoit Y, Mahlaoui N, Fischer A, Knerr V, Kindle G; ESID Registry Working Party.

Clin Exp Immunol. 2009 Sep;157 Suppl 1:3-11. doi: 10.1111/j.1365-2249.2009.03954.x.

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