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Items: 1 to 20 of 46

1.

Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle.

Göschl L, Winkler S, Dmytrus J, Heredia RJ, Lagler H, Ramharter M, Scheinecker C, Bonelli M, Schmetterer K, Pickl WF, Grabmeier-Pfistershammer K, Hershfield MS, Boztug K, Förster-Waldl E, Gualdoni GA.

J Clin Immunol. 2019 Nov 4. doi: 10.1007/s10875-019-00700-w. [Epub ahead of print] No abstract available.

PMID:
31686313
2.

Publisher Correction: Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis.

Serwas NK, Hoeger B, Ardy RC, Stulz SV, Sui Z, Memaran N, Meeths M, Krolo A, Petronczki ÖY, Pfajfer L, Hou TZ, Halliday N, Santos-Valente E, Kalinichenko A, Kennedy A, Mace EM, Mukherjee M, Tesi B, Schrempf A, Pickl WF, Loizou JI, Kain R, Bidmon-Fliegenschnee B, Schickel JN, Glauzy S, Huemer J, Garncarz W, Salzer E, Pierides I, Bilic I, Thiel J, Priftakis P, Banerjee PP, Förster-Waldl E, Medgyesi D, Huber WD, Orange JS, Meffre E, Sansom DM, Bryceson YT, Altman A, Boztug K.

Nat Commun. 2019 Oct 2;10(1):4555. doi: 10.1038/s41467-019-12454-5.

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 Sep 12. doi: 10.1007/s12026-019-09093-9. [Epub ahead of print]

PMID:
31515711
4.

Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.

Conde CD, Petronczki ÖY, Baris S, Willmann KL, Girardi E, Salzer E, Weitzer S, Ardy RC, Krolo A, Ijspeert H, Kiykim A, Karakoc-Aydiner E, Förster-Waldl E, Kager L, Pickl WF, Superti-Furga G, Martínez J, Loizou JI, Ozen A, van der Burg M, Boztug K.

J Clin Invest. 2019 Oct 1;129(10):4194-4206. doi: 10.1172/JCI128903.

5.

Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis.

Serwas NK, Hoeger B, Ardy RC, Stulz SV, Sui Z, Memaran N, Meeths M, Krolo A, Yüce Petronczki Ö, Pfajfer L, Hou TZ, Halliday N, Santos-Valente E, Kalinichenko A, Kennedy A, Mace EM, Mukherjee M, Tesi B, Schrempf A, Pickl WF, Loizou JI, Kain R, Bidmon-Fliegenschnee B, Schickel JN, Glauzy S, Huemer J, Garncarz W, Salzer E, Pierides I, Bilic I, Thiel J, Priftakis P, Banerjee PP, Förster-Waldl E, Medgyesi D, Huber WD, Orange JS, Meffre E, Sansom DM, Bryceson YT, Altman A, Boztug K.

Nat Commun. 2019 Jul 15;10(1):3106. doi: 10.1038/s41467-019-10812-x. Erratum in: Nat Commun. 2019 Oct 2;10(1):4555.

6.

Diminished secretion and function of IL-29 is associated with impaired IFN-α response of neonatal plasmacytoid dendritic cells.

Wisgrill L, Wessely I, Netzl A, Pummer L, Sadeghi K, Spittler A, Berger A, Förster-Waldl E.

J Leukoc Biol. 2019 Nov;106(5):1177-1185. doi: 10.1002/JLB.4A0518-189R. Epub 2019 Jun 18.

7.

Human lactoferrin attenuates the proinflammatory response of neonatal monocyte-derived macrophages.

Wisgrill L, Wessely I, Spittler A, Förster-Waldl E, Berger A, Sadeghi K.

Clin Exp Immunol. 2018 Jun;192(3):315-324. doi: 10.1111/cei.13108. Epub 2018 Mar 12.

8.

Endothelial cells of extremely premature infants display impaired immune response after proinflammatory stimulation.

Wisgrill L, Muck M, Wessely I, Berger A, Spittler A, Förster-Waldl E, Sadeghi K.

Pediatr Res. 2018 Jan;83(1-1):128-134. doi: 10.1038/pr.2017.202. Epub 2017 Sep 27.

PMID:
29278644
9.

Pentoxifylline modulates LPS-induced hyperinflammation in monocytes of preterm infants in vitro.

Schüller SS, Wisgrill L, Herndl E, Spittler A, Förster-Waldl E, Sadeghi K, Kramer BW, Berger A.

Pediatr Res. 2017 Aug;82(2):215-225. doi: 10.1038/pr.2017.41. Epub 2017 May 24.

PMID:
28288151
10.

GM-CSF Down-Regulates TLR Expression via the Transcription Factor PU.1 in Human Monocytes.

Sadeghi K, Wisgrill L, Wessely I, Diesner SC, Schüller S, Dürr C, Heinle A, Sachet M, Pollak A, Förster-Waldl E, Spittler A.

PLoS One. 2016 Oct 3;11(10):e0162667. doi: 10.1371/journal.pone.0162667. eCollection 2016.

11.

Primary immunodeficiency associated with chromosomal aberration - an ESID survey.

Schatorjé E, van der Flier M, Seppänen M, Browning M, Morsheimer M, Henriet S, Neves JF, Vinh DC, Alsina L, Grumach A, Soler-Palacin P, Boyce T, Celmeli F, Goudouris E, Hayman G, Herriot R, Förster-Waldl E, Seidel M, Simons A, de Vries E.

Orphanet J Rare Dis. 2016 Aug 2;11(1):110. doi: 10.1186/s13023-016-0492-1.

12.

NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation.

Boztug H, Hirschmugl T, Holter W, Lakatos K, Kager L, Trapin D, Pickl W, Förster-Waldl E, Boztug K.

J Clin Immunol. 2016 Aug;36(6):533-40. doi: 10.1007/s10875-016-0306-1. Epub 2016 Jun 23.

13.

The TLR-specific adjuvants R-848 and CpG-B endorse the immunological reaction of neonatal antigen-presenting cells.

Schüller S, Wisgrill L, Sadeghi K, Gindl E, Helmer H, Husslein P, Berger A, Spittler A, Förster-Waldl E.

Pediatr Res. 2016 Aug;80(2):311-8. doi: 10.1038/pr.2016.71. Epub 2016 Apr 8.

PMID:
27057737
14.

Reduced TNF-α response in preterm neonates is associated with impaired nonclassic monocyte function.

Wisgrill L, Groschopf A, Herndl E, Sadeghi K, Spittler A, Berger A, Förster-Waldl E.

J Leukoc Biol. 2016 Sep;100(3):607-12. doi: 10.1189/jlb.4A0116-001RR. Epub 2016 Mar 10.

PMID:
26965638
15.

Impaired microbial killing by neutrophils from patients with protein kinase C delta deficiency.

Szilagyi K, Gazendam RP, van Hamme JL, Tool AT, van Houdt M, Vos WA, Verkuijlen P, Janssen H, Belot A, Juillard L, Förster-Waldl E, Boztug K, Kraal G, de Winther MP, Kuijpers TW, van den Berg TK.

J Allergy Clin Immunol. 2015 Nov;136(5):1404-7.e1-10. doi: 10.1016/j.jaci.2015.06.016. Epub 2015 Jul 30. No abstract available.

PMID:
26233929
16.

Trichuris suis induces human non-classical patrolling monocytes via the mannose receptor and PKC: implications for multiple sclerosis.

Kooij G, Braster R, Koning JJ, Laan LC, van Vliet SJ, Los T, Eveleens AM, van der Pol SM, Förster-Waldl E, Boztug K, Belot A, Szilagyi K, van den Berg TK, van Buul JD, van Egmond M, de Vries HE, Cummings RD, Dijkstra CD, van Die I.

Acta Neuropathol Commun. 2015 Jul 25;3:45. doi: 10.1186/s40478-015-0223-1.

17.

Mannan-binding lectin deficiency attenuates acute GvHD in pediatric hematopoietic stem cell transplantation.

Heitzeneder S, Zeitlhofer P, Pötschger U, Nowak E, Seidel MG, Hölzl M, Lawitschka A, Förster-Waldl E, Matthes-Martin S, Heja D, Haas OA, Heitger A.

Bone Marrow Transplant. 2015 Aug;50(8):1127-9. doi: 10.1038/bmt.2015.81. Epub 2015 May 11. No abstract available.

PMID:
25961768
18.

Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.

Woutsas S, Aytekin C, Salzer E, Conde CD, Apaydin S, Pichler H, Memaran-Dadgar N, Hosnut FO, Förster-Waldl E, Matthes S, Huber WD, Lion T, Holter W, Bilic I, Boztug K.

Blood. 2015 Mar 5;125(10):1674-6. doi: 10.1182/blood-2014-08-595397. No abstract available.

19.

PKCδ is dispensible for oxLDL uptake and foam cell formation by human and murine macrophages.

Szilagyi K, Meijer AB, Neele AE, Verkuijlen P, Leitges M, Dabernat S, Förster-Waldl E, Boztug K, Belot A, Kuijpers TW, Kraal G, de Winther MP, van den Berg TK.

Cardiovasc Res. 2014 Dec 1;104(3):467-76. doi: 10.1093/cvr/cvu213. Epub 2014 Sep 24.

PMID:
25253077
20.

A novel immunodeficiency syndrome associated with partial trisomy 19p13.

Seidel MG, Duerr C, Woutsas S, Schwerin-Nagel A, Sadeghi K, Neesen J, Uhrig S, Santos-Valente E, Pickl WF, Schwinger W, Urban C, Boztug K, Förster-Waldl E.

J Med Genet. 2014 Apr;51(4):254-63. doi: 10.1136/jmedgenet-2013-102122. Epub 2014 Jan 15.

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