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Items: 1 to 20 of 136

1.

Clinical and Molecular Heterogeneity of RTEL1 Deficiency.

Speckmann C, Sahoo SS, Rizzi M, Hirabayashi S, Karow A, Serwas NK, Hoemberg M, Damatova N, Schindler D, Vannier JB, Boulton SJ, Pannicke U, Göhring G, Thomay K, Verdu-Amoros JJ, Hauch H, Woessmann W, Escherich G, Laack E, Rindle L, Seidl M, Rensing-Ehl A, Lausch E, Jandrasits C, Strahm B, Schwarz K, Ehl SR, Niemeyer C, Boztug K, Wlodarski MW.

Front Immunol. 2017 May 1;8:449. doi: 10.3389/fimmu.2017.00449. eCollection 2017.

2.

Treatment of Severe Forms of LPS-Responsive Beige-like Anchor Protein (LRBA) Deficiency by Allogeneic Hematopoietic Stem Cell Transplantation.

Seidel MG, Böhm K, Dogu F, Worth A, Thrasher A, Florkin B, İkincioğulları A, Peters A, Bakhtiar S, Meeths M, Stepensky P, Meyts I, Sharapova SO, Gámez-Díaz L, Hammarström L, Ehl S, Grimbacher B, Gennery AR; Inborn Errors Working Party (IEWP) of the European Group for Blood and Marrow Transplantation (EBMT)..

J Allergy Clin Immunol. 2017 May 10. pii: S0091-6749(17)30747-9. doi: 10.1016/j.jaci.2017.04.023. [Epub ahead of print]

PMID:
28502825
3.

IgG4-related disease in autoimmune lymphoproliferative syndrome.

van de Ven AAJM, Seidl M, Drendel V, Schmitt-Graeff A, Voll RE, Rensing-Ehl A, Speckmann C, Ehl S, Warnatz K, Kollert F.

Clin Immunol. 2017 May 3;180:97-99. doi: 10.1016/j.clim.2017.05.003. [Epub ahead of print]

PMID:
28478106
4.

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.

Chiang SCC, Wood SM, Tesi B, Akar HH, Al-Herz W, Ammann S, Belen FB, Caliskan U, Kaya Z, Lehmberg K, Patiroglu T, Tokgoz H, Ünüvar A, Introne WJ, Henter JI, Nordenskjöld M, Ljunggren HG, Meeths M, Ehl S, Krzewski K, Bryceson YT.

Front Immunol. 2017 Apr 18;8:426. doi: 10.3389/fimmu.2017.00426. eCollection 2017.

5.

Primary and secondary hemophagocytic lymphohistiocytosis have different patterns of T-cell activation, differentiation and repertoire.

Ammann S, Lehmberg K, Zur Stadt U, Janka G, Rensing-Ehl A, Klemann C, Heeg M, Bode S, Fuchs I, Ehl S; HLH study of the GPOH..

Eur J Immunol. 2017 Feb;47(2):364-373. doi: 10.1002/eji.201646686. Epub 2017 Jan 3.

PMID:
27925643
6.

Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome.

Nademi Z, Slatter MA, Dvorak CC, Neven B, Fischer A, Suarez F, Booth C, Rao K, Laberko A, Rodina J, Bertrand Y, Kołtan S, Dębski R, Flood T, Abinun M, Gennery AR, Hambleton S, Ehl S, Cant AJ.

J Allergy Clin Immunol. 2017 Mar;139(3):1046-1049. doi: 10.1016/j.jaci.2016.09.040. Epub 2016 Nov 12. No abstract available.

PMID:
27847301
7.

Tyrosine kinase 2 is not limiting human antiviral type III interferon responses.

Fuchs S, Kaiser-Labusch P, Bank J, Ammann S, Kolb-Kokocinski A, Edelbusch C, Omran H, Ehl S.

Eur J Immunol. 2016 Nov;46(11):2639-2649. doi: 10.1002/eji.201646519. Epub 2016 Oct 5.

PMID:
27615517
8.

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome.

Klemann C, Esquivel M, Magerus-Chatinet A, Lorenz MR, Fuchs I, Neveux N, Castelle M, Rohr J, da Cunha CB, Ebinger M, Kobbe R, Kremens B, Kollert F, Gambineri E, Lehmberg K, Seidel MG, Siepermann K, Voelker T, Schuster V, Goldacker S, Schwarz K, Speckmann C, Picard C, Fischer A, Rieux-Laucat F, Ehl S, Rensing-Ehl A, Neven B.

Haematologica. 2017 Feb;102(2):e52-e56. doi: 10.3324/haematol.2016.153411. Epub 2016 Oct 27. No abstract available.

9.

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.

PMID:
27658761
10.

Specialized or opportunistic-how does the high mountain endemic butterfly Erebia nivalis survive in its extreme habitats?

Ehl S, Dalstein V, Tull F, Gros P, Schmitt T.

Insect Sci. 2016 Sep 15. doi: 10.1111/1744-7917.12400. [Epub ahead of print]

PMID:
27628710
11.

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.

Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, Goodlad JR, Farmer G, Steele CL, Leahy TR, Doffinger R, Baxendale H, Bernatoniene J, Edgar JD, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A, Milota T, Faust SN, Williams AP, Hayman G, Kucuk ZY, Hague R, French P, Brooker R, Forsyth P, Herriot R, Cancrini C, Palma P, Ariganello P, Conlon N, Feighery C, Gavin PJ, Jones A, Imai K, Ibrahim MA, Markelj G, Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova JL, Durandy A, Burns SO, Savic S, Kumararatne DS, Moshous D, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM, Cant AJ.

J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16.

12.

Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.

Chen HH, Händel N, Ngeow J, Muller J, Hühn M, Yang HT, Heindl M, Berbers RM, Hegazy AN, Kionke J, Yehia L, Sack U, Bläser F, Rensing-Ehl A, Reifenberger J, Keith J, Travis S, Merkenschlager A, Kiess W, Wittekind C, Walker L, Ehl S, Aretz S, Dustin ML, Eng C, Powrie F, Uhlig HH.

J Allergy Clin Immunol. 2017 Feb;139(2):607-620.e15. doi: 10.1016/j.jaci.2016.03.059. Epub 2016 Jun 18.

13.

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.

Völkl S, Rensing-Ehl A, Allgäuer A, Schreiner E, Lorenz MR, Rohr J, Klemann C, Fuchs I, Schuster V, von Bueren AO, Naumann-Bartsch N, Gambineri E, Siepermann K, Kobbe R, Nathrath M, Arkwright PD, Miano M, Stachel KD, Metzler M, Schwarz K, Kremer AN, Speckmann C, Ehl S, Mackensen A.

Blood. 2016 Jul 14;128(2):227-38. doi: 10.1182/blood-2015-11-685024. Epub 2016 Apr 20.

PMID:
27099149
14.

The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis.

Hartz B, Marsh R, Rao K, Henter JI, Jordan M, Filipovich L, Bader P, Beier R, Burkhardt B, Meisel R, Schulz A, Winkler B, Albert MH, Greil J, Karasu G, Woessmann W, Corbacioglu S, Gruhn B, Holter W, Kühl JS, Lang P, Seidel MG, Veys P, Löfstedt A, Ammann S, Ehl S, Janka G, Müller I, Lehmberg K.

Blood. 2016 Jun 23;127(25):3281-90. doi: 10.1182/blood-2015-12-684498. Epub 2016 Apr 20.

PMID:
27099148
15.

Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome.

Janda A, Schwarz K, van der Burg M, Vach W, Ijspeert H, Lorenz MR, Elgizouli M, Pieper K, Fisch P, Hagel J, Lorenzetti R, Seidl M, Roesler J, Hauck F, Traggiai E, Speckmann C, Rensing-Ehl A, Ehl S, Eibel H, Rizzi M.

Blood. 2016 May 5;127(18):2193-202. doi: 10.1182/blood-2015-04-642488. Epub 2016 Feb 23.

16.

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.

PMID:
26812624
17.

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.

Ammann S, Schulz A, Krägeloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmüller J, Thiele H, Nürnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S.

Blood. 2016 Feb 25;127(8):997-1006. doi: 10.1182/blood-2015-09-671636. Epub 2016 Jan 7.

18.

Preserved effector functions of human ORAI1- and STIM1-deficient neutrophils.

Elling R, Keller B, Weidinger C, Häffner M, Deshmukh SD, Zee I, Speckmann C, Ehl S, Schwarz K, Feske S, Henneke P.

J Allergy Clin Immunol. 2016 May;137(5):1587-1591.e7. doi: 10.1016/j.jaci.2015.09.047. Epub 2015 Dec 6. No abstract available.

19.

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome.

Rensing-Ehl A, Pannicke U, Zimmermann SY, Lorenz MR, Neven B, Fuchs I, Salzer U, Speckmann C, Strauss A, Maaβ E, Collet B, Enders A, Favier R, Alessi MC, Rieux-Laucat F, Zieger B, Schwarz K, Ehl S.

Blood. 2015 Oct 15;126(16):1967-9. doi: 10.1182/blood-2015-06-654145. No abstract available.

20.

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.

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