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Items: 25

1.

Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies.

Nagy M, Mastenbroek TG, Mattheij NJA, de Witt S, Clemetson KJ, Kirschner J, Schulz AS, Vraetz T, Speckmann C, Braun A, Cosemans JMEM, Zieger B, Heemskerk JWM.

Haematologica. 2018 Mar;103(3):540-549. doi: 10.3324/haematol.2017.176974. Epub 2017 Dec 14.

2.

ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.

Lian J, Cuk M, Kahlfuss S, Kozhaya L, Vaeth M, Rieux-Laucat F, Picard C, Benson MJ, Jakovcevic A, Bilic K, Martinac I, Stathopulos P, Kacskovics I, Vraetz T, Speckmann C, Ehl S, Issekutz T, Unutmaz D, Feske S.

J Allergy Clin Immunol. 2018 Oct;142(4):1297-1310.e11. doi: 10.1016/j.jaci.2017.10.031. Epub 2017 Nov 16.

3.

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Güngör T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Döffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C.

Blood. 2017 Sep 21;130(12):1456-1467. doi: 10.1182/blood-2017-03-771600. Epub 2017 Jul 5.

4.

Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation.

Klemann C, Ammann S, Heizmann M, Fuchs S, Bode SF, Heeg M, Fuchs H, Lehmberg K, Zur Stadt U, Roll C, Vraetz T, Speckmann C, Lorenz MR, Schwarz K, Rohr J, Feske S, Ehl S.

J Allergy Clin Immunol. 2017 Dec;140(6):1721-1724. doi: 10.1016/j.jaci.2017.05.039. Epub 2017 Jun 19. No abstract available.

5.

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

Speckmann C, Doerken S, Aiuti A, Albert MH, Al-Herz W, Allende LM, Scarselli A, Avcin T, Perez-Becker R, Cancrini C, Cant A, Di Cesare S, Finocchi A, Fischer A, Gaspar HB, Ghosh S, Gennery A, Gilmour K, González-Granado LI, Martinez-Gallo M, Hambleton S, Hauck F, Hoenig M, Moshous D, Neven B, Niehues T, Notarangelo L, Picard C, Rieber N, Schulz A, Schwarz K, Seidel MG, Soler-Palacin P, Stepensky P, Strahm B, Vraetz T, Warnatz K, Winterhalter C, Worth A, Fuchs S, Uhlmann A, Ehl S; P-CID study of the Inborn Errors Working Party of the EBMT.

J Allergy Clin Immunol. 2017 Apr;139(4):1302-1310.e4. doi: 10.1016/j.jaci.2016.07.040. Epub 2016 Sep 19.

6.

Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.

Klemann C, Pannicke U, Morris-Rosendahl DJ, Vlantis K, Rizzi M, Uhlig H, Vraetz T, Speckmann C, Strahm B, Pasparakis M, Schwarz K, Ehl S, Rohr JC.

Clin Immunol. 2016 Mar;164:52-6. doi: 10.1016/j.clim.2016.01.010. Epub 2016 Jan 23.

7.

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.

Fuchs S, Rensing-Ehl A, Pannicke U, Lorenz MR, Fisch P, Jeelall Y, Rohr J, Speckmann C, Vraetz T, Farmand S, Schmitt-Graeff A, Krüger M, Strahm B, Henneke P, Enders A, Horikawa K, Goodnow C, Schwarz K, Ehl S.

Blood. 2015 Oct 1;126(14):1658-69. doi: 10.1182/blood-2015-03-631374. Epub 2015 Aug 19.

8.

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling.

Hauck F, Blumenthal B, Fuchs S, Lenoir C, Martin E, Speckmann C, Vraetz T, Mannhardt-Laakmann W, Lambert N, Gil M, Borte S, Audrain M, Schwarz K, Lim A, Schamel WW, Fischer A, Ehl S, Rensing-Ehl A, Picard C, Latour S.

Clin Immunol. 2015 Dec;161(2):103-9. doi: 10.1016/j.clim.2015.07.002. Epub 2015 Jul 14.

PMID:
26187144
9.

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.

Bode SF, Ammann S, Al-Herz W, Bataneant M, Dvorak CC, Gehring S, Gennery A, Gilmour KC, Gonzalez-Granado LI, Groß-Wieltsch U, Ifversen M, Lingman-Framme J, Matthes-Martin S, Mesters R, Meyts I, van Montfrans JM, Pachlopnik Schmid J, Pai SY, Soler-Palacin P, Schuermann U, Schuster V, Seidel MG, Speckmann C, Stepensky P, Sykora KW, Tesi B, Vraetz T, Waruiru C, Bryceson YT, Moshous D, Lehmberg K, Jordan MB, Ehl S; Inborn Errors Working Party of the EBMT.

Haematologica. 2015 Jul;100(7):978-88. doi: 10.3324/haematol.2014.121608. Epub 2015 May 28.

10.

Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.

Fuchs S, Rensing-Ehl A, Erlacher M, Vraetz T, Hartjes L, Janda A, Rizzi M, Lorenz MR, Gilmour K, de Saint-Basile G, Roifman CM, Cheuk S, Gennery A, Thrasher AJ, Fuchs I, Schwarz K, Speckmann C, Ehl S.

Eur J Immunol. 2014 Oct;44(10):3129-40. doi: 10.1002/eji.201444689. Epub 2014 Aug 28.

11.

Clinical heterogeneity of immunodysregulation, polyendocrinopathy, enteropathy, X-linked: pulmonary involvement as a non-classical disease manifestation.

Baris S, Schulze I, Ozen A, Karakoç Aydıner E, Altuncu E, Karasu GT, Ozturk N, Lorenz M, Schwarz K, Vraetz T, Ehl S, Barlan IB.

J Clin Immunol. 2014 Aug;34(6):601-6. doi: 10.1007/s10875-014-0059-7. Epub 2014 Jun 12.

PMID:
24916357
12.

Hemophagocytic lymphohistiocytosis in imported pediatric visceral leishmaniasis in a nonendemic area.

Bode SF, Bogdan C, Beutel K, Behnisch W, Greiner J, Henning S, Jorch N, Jankofsky M, Jakob M, Schmid I, Veelken N, Vraetz T, Janka G, Ehl S, Lehmberg K.

J Pediatr. 2014 Jul;165(1):147-153.e1. doi: 10.1016/j.jpeds.2014.03.047. Epub 2014 May 3.

PMID:
24797953
13.

Platelet secretion defect in a patient with stromal interaction molecule 1 deficiency.

Nakamura L, Sandrock-Lang K, Speckmann C, Vraetz T, Bührlen M, Ehl S, Heemskerk JW, Zieger B.

Blood. 2013 Nov 21;122(22):3696-8. doi: 10.1182/blood-2013-08-522037. No abstract available.

PMID:
24263961
14.

X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.

Speckmann C, Lehmberg K, Albert MH, Damgaard RB, Fritsch M, Gyrd-Hansen M, Rensing-Ehl A, Vraetz T, Grimbacher B, Salzer U, Fuchs I, Ufheil H, Belohradsky BH, Hassan A, Cale CM, Elawad M, Strahm B, Schibli S, Lauten M, Kohl M, Meerpohl JJ, Rodeck B, Kolb R, Eberl W, Soerensen J, von Bernuth H, Lorenz M, Schwarz K, Zur Stadt U, Ehl S.

Clin Immunol. 2013 Oct;149(1):133-41. doi: 10.1016/j.clim.2013.07.004. Epub 2013 Jul 31.

PMID:
23973892
15.

Successful double umbilical cord blood transplantation for relapsed juvenile myelomonocytic leukemia.

Flotho C, Vraetz T, Lang P, Niemeyer CM, Strahm B.

Leukemia. 2013 Apr;27(4):988-9. doi: 10.1038/leu.2012.273. Epub 2012 Sep 24. No abstract available.

PMID:
23000834
16.

Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis.

Bode SF, Lehmberg K, Maul-Pavicic A, Vraetz T, Janka G, Stadt UZ, Ehl S.

Arthritis Res Ther. 2012 Jun 8;14(3):213. doi: 10.1186/ar3843. Review.

17.

Prolonged KI polyomavirus infection in immunodeficient child.

Falcone V, Panning M, Strahm B, Vraetz T, Bierbaum S, Neumann-Haefelin D, Huzly D.

Emerg Infect Dis. 2012 Apr;18(4):706-8. doi: 10.3201/eid1804.111588. No abstract available.

18.

A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes.

Bryceson YT, Pende D, Maul-Pavicic A, Gilmour KC, Ufheil H, Vraetz T, Chiang SC, Marcenaro S, Meazza R, Bondzio I, Walshe D, Janka G, Lehmberg K, Beutel K, zur Stadt U, Binder N, Arico M, Moretta L, Henter JI, Ehl S.

Blood. 2012 Mar 22;119(12):2754-63. doi: 10.1182/blood-2011-08-374199. Epub 2012 Jan 31.

PMID:
22294731
19.

Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency.

Fuchs S, Rensing-Ehl A, Speckmann C, Bengsch B, Schmitt-Graeff A, Bondzio I, Maul-Pavicic A, Bass T, Vraetz T, Strahm B, Ankermann T, Benson M, Caliebe A, Fölster-Holst R, Kaiser P, Thimme R, Schamel WW, Schwarz K, Feske S, Ehl S.

J Immunol. 2012 Feb 1;188(3):1523-33. doi: 10.4049/jimmunol.1102507. Epub 2011 Dec 21.

20.

Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome.

Jessen B, Maul-Pavicic A, Ufheil H, Vraetz T, Enders A, Lehmberg K, Längler A, Gross-Wieltsch U, Bay A, Kaya Z, Bryceson YT, Koscielniak E, Badawy S, Davies G, Hufnagel M, Schmitt-Graeff A, Aichele P, Zur Stadt U, Schwarz K, Ehl S.

Blood. 2011 Oct 27;118(17):4620-9. doi: 10.1182/blood-2011-05-356113. Epub 2011 Aug 30.

PMID:
21878672
21.

Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5).

Sandrock K, Nakamura L, Vraetz T, Beutel K, Ehl S, Zieger B.

Blood. 2010 Dec 23;116(26):6148-50. doi: 10.1182/blood-2010-08-302943. No abstract available.

PMID:
21183701
22.

Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.

Rohr J, Beutel K, Maul-Pavicic A, Vraetz T, Thiel J, Warnatz K, Bondzio I, Gross-Wieltsch U, Schündeln M, Schütz B, Woessmann W, Groll AH, Strahm B, Pagel J, Speckmann C, Janka G, Griffiths G, Schwarz K, zur Stadt U, Ehl S.

Haematologica. 2010 Dec;95(12):2080-7. doi: 10.3324/haematol.2010.029389. Epub 2010 Sep 7.

23.

Interferon-gamma sensitizes resistant Ewing's sarcoma cells to tumor necrosis factor apoptosis-inducing ligand-induced apoptosis by up-regulation of caspase-8 without altering chemosensitivity.

Lissat A, Vraetz T, Tsokos M, Klein R, Braun M, Koutelia N, Fisch P, Romero ME, Long L, Noellke P, Mackall CL, Niemeyer CM, Kontny U.

Am J Pathol. 2007 Jun;170(6):1917-30.

24.
25.

Regulation of beta2-microglobulin expression in different human cell lines by proinflammatory cytokines.

Vraetz T, Ittel TH, van Mackelenbergh MG, Heinrich PC, Sieberth HG, Graeve L.

Nephrol Dial Transplant. 1999 Sep;14(9):2137-43.

PMID:
10489222

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