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Items: 1 to 50 of 69

1.

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

Gallon R, Mühlegger B, Wenzel SS, Sheth H, Hayes C, Aretz S, Dahan K, Foulkes W, Kratz CP, Ripperger T, Azizi AA, Feldman HB, Chong AL, Demirsoy U, Florkin B, Imschweiler T, Januszkiewicz-Lewandowska D, Lobitz S, Nathrath M, Pander HJ, Perez-Alonso V, Perne C, Ragab I, Rosenbaum T, Rueda D, Seidel MG, Suerink M, Taeubner J, Zimmermann SY, Zschocke J, Borthwick GM, Burn J, Jackson MS, Santibanez-Koref M, Wimmer K.

Hum Mutat. 2019 Feb 10. doi: 10.1002/humu.23721. [Epub ahead of print]

PMID:
30740824
2.

Successful Treatment with SCIG of a Child with Refractory Chronic ITP.

Karastaneva A, Klobassa DS, Minkov M, Benesch M, Seidel MG.

J Clin Immunol. 2019 Jan;39(1):19-22. doi: 10.1007/s10875-018-0583-y. Epub 2019 Jan 10. No abstract available.

PMID:
30631990
3.

The Pattern of Malignancies in Down Syndrome and Its Potential Context With the Immune System.

Satgé D, Seidel MG.

Front Immunol. 2018 Dec 19;9:3058. doi: 10.3389/fimmu.2018.03058. eCollection 2018. Review.

4.

Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group.

Bomken S, van der Werff Ten Bosch J, Attarbaschi A, Bacon CM, Borkhardt A, Boztug K, Fischer U, Hauck F, Kuiper RP, Lammens T, Loeffen J, Neven B, Pan-Hammarström Q, Quinti I, Seidel MG, Warnatz K, Wehr C, Lankester AC, Gennery AR.

Front Immunol. 2018 Dec 12;9:2912. doi: 10.3389/fimmu.2018.02912. eCollection 2018. Review.

5.

The Phenotype and Treatment of WIP Deficiency: Literature Synopsis and Review of a Patient With Pre-transplant Serial Donor Lymphocyte Infusions to Eliminate CMV.

Schwinger W, Urban C, Ulreich R, Sperl D, Karastaneva A, Strenger V, Lackner H, Boztug K, Albert MH, Benesch M, Seidel MG.

Front Immunol. 2018 Nov 2;9:2554. doi: 10.3389/fimmu.2018.02554. eCollection 2018. Review.

6.

The Iceberg Map of germline mutations in childhood cancer: focus on primary immunodeficiencies.

Kindler O, Quehenberger F, Benesch M, Seidel MG.

Curr Opin Pediatr. 2018 Dec;30(6):855-863. doi: 10.1097/MOP.0000000000000680.

PMID:
30124581
7.

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.

Tesch VK, IJspeert H, Raicht A, Rueda D, Dominguez-Pinilla N, Allende LM, Colas C, Rosenbaum T, Ilencikova D, Baris HN, Nathrath MHM, Suerink M, Januszkiewicz-Lewandowska D, Ragab I, Azizi AA, Wenzel SS, Zschocke J, Schwinger W, Kloor M, Blattmann C, Brugieres L, van der Burg M, Wimmer K, Seidel MG.

Front Immunol. 2018 Jul 2;9:1506. doi: 10.3389/fimmu.2018.01506. eCollection 2018.

8.

Malignancy and chemotherapy induced haemophagocytic lymphohistiocytosis in children and adolescents-a single centre experience of 20 years.

Strenger V, Merth G, Lackner H, Aberle SW, Kessler HH, Seidel MG, Schwinger W, Sperl D, Sovinz P, Karastaneva A, Benesch M, Urban C.

Ann Hematol. 2018 Jun;97(6):989-998. doi: 10.1007/s00277-018-3254-4. Epub 2018 Feb 6.

9.

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kałwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R; Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT).

J Allergy Clin Immunol. 2018 Mar;141(3):1036-1049.e5. doi: 10.1016/j.jaci.2017.10.041. Epub 2017 Dec 11.

10.

WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly.

Pfajfer L, Seidel MG, Houmadi R, Rey-Barroso J, Hirschmugl T, Salzer E, Antón IM, Urban C, Schwinger W, Boztug K, Dupré L.

Blood. 2017 Oct 26;130(17):1949-1953. doi: 10.1182/blood-2017-04-777383. Epub 2017 Sep 13. No abstract available.

11.

Chilblain lupus and steroid-responsive pancytopenia precede monosomy 7-linked AML as manifestation of rasopathy.

Klobassa DS, Dworzak MN, Lanz S, Skrabl-Baumgartner A, Beham-Schmid C, Cerroni L, Haas OA, Wlodarski M, Salzer U, Lackner H, Benesch M, Schwinger W, Urban C, Seidel MG.

Pediatr Blood Cancer. 2017 Dec;64(12). doi: 10.1002/pbc.26724. Epub 2017 Aug 12. No abstract available.

PMID:
28802089
12.

Baby genome screening: paving the way to genetic discrimination?

Seidel MG.

BMJ. 2017 Jul 20;358:j3294. doi: 10.1136/bmj.j3294. No abstract available.

PMID:
28729238
13.

Intrinsic and extrinsic causes of malignancies in patients with primary immunodeficiency disorders.

Hauck F, Voss R, Urban C, Seidel MG.

J Allergy Clin Immunol. 2018 Jan;141(1):59-68.e4. doi: 10.1016/j.jaci.2017.06.009. Epub 2017 Jun 29.

PMID:
28669558
14.

Life-threatening sinusoidal obstruction syndrome after high-dose chemotherapy linked to compound heterozygous mutations in ABCB11.

Stampfer L, Sperl D, Fickert P, Lackner H, Sovinz P, Ofner-Ziegenfuß L, Strenger V, Urban C, Jahnel J, Seidel MG.

Pediatr Blood Cancer. 2017 Dec;64(12). doi: 10.1002/pbc.26666. Epub 2017 Jun 9. No abstract available.

PMID:
28598581
15.

Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.

Schulze H, Schlagenhauf A, Manukjan G, Beham-Schmid C, Andres O, Klopocki E, König EM, Haidl H, Panzer S, Althaus K, Muntean WE, Schwinger W, Urban C, Greinacher A, Bakchoul T, Seidel MG.

Haematologica. 2017 Sep;102(9):e375-e378. doi: 10.3324/haematol.2017.167957. Epub 2017 May 26. No abstract available.

16.

Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with 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 of the European Group for Blood and Marrow Transplantation.

J Allergy Clin Immunol. 2018 Feb;141(2):770-775.e1. doi: 10.1016/j.jaci.2017.04.023. Epub 2017 May 10. No abstract available.

PMID:
28502825
17.

A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.

Smolle MA, Heitzer E, Geigl JB, Al Kaissi A, Liegl-Atzwanger B, Seidel MG, Holzer LA, Leithner A.

Pediatr Blood Cancer. 2017 Oct;64(10). doi: 10.1002/pbc.26522. Epub 2017 Mar 30. No abstract available.

PMID:
28371197
18.

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.

19.

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.

20.

Management of chronic immune thrombocytopenia in children and adolescents: lessons from an Austrian national cross-sectional study of 81 patients.

Sipurzynski J, Fahrner B, Kerbl R, Crazzolara R, Jones N, Ebetsberger G, Jauk B, Strenger V, Wohlmuther B, Schwinger W, Lackner H, Urban C, Holter W, Minkov M, Kager L, Benesch M, Seidel MG.

Semin Hematol. 2016 Apr;53 Suppl 1:S43-7. doi: 10.1053/j.seminhematol.2016.04.013. Epub 2016 Apr 12.

PMID:
27312164
21.

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.

22.

Editorial: Current Challenges in Immune and Other Acquired Cytopenias of Childhood.

Ghosh S, Seidel MG.

Front Pediatr. 2016 Feb 2;4:3. doi: 10.3389/fped.2016.00003. eCollection 2016. No abstract available.

23.

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.

Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJJ, Blessing J, Van de Veerdonk F, Feuchtinger T, Kanariou M, Schmitt-Graeff A, Jung S, Seneviratne S, Burns S, Belohradsky BH, Rezaei N, Bakhtiar S, Speckmann C, Jordan M, Grimbacher B.

J Allergy Clin Immunol. 2016 Jan;137(1):223-230. doi: 10.1016/j.jaci.2015.09.025.

PMID:
26768763
24.

Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?

Seidel MG, Boztug K, Haas OA.

J Clin Immunol. 2016 Jan;36(1):6-7. doi: 10.1007/s10875-015-0218-5. Epub 2015 Dec 10. No abstract available.

PMID:
26661331
25.

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
26.

Immune Thrombocytopenia in Two Unrelated Fanconi Anemia Patients - A Mere Coincidence?

Karastaneva A, Lanz S, Wawer A, Behrends U, Schindler D, Dietrich R, Burdach S, Urban C, Benesch M, Seidel MG.

Front Pediatr. 2015 Jun 8;3:50. doi: 10.3389/fped.2015.00050. eCollection 2015.

27.

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.

28.

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
29.

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.

Alkhairy OK, Perez-Becker R, Driessen GJ, Abolhassani H, van Montfrans J, Borte S, Choo S, Wang N, Tesselaar K, Fang M, Bienemann K, Boztug K, Daneva A, Mechinaud F, Wiesel T, Becker C, Dückers G, Siepermann K, van Zelm MC, Rezaei N, van der Burg M, Aghamohammadi A, Seidel MG, Niehues T, Hammarström L.

J Allergy Clin Immunol. 2015 Sep;136(3):703-712.e10. doi: 10.1016/j.jaci.2015.02.022. Epub 2015 Apr 3.

PMID:
25843314
30.

Spectrum and management of complement immunodeficiencies (excluding hereditary angioedema) across Europe.

Turley AJ, Gathmann B, Bangs C, Bradbury M, Seneviratne S, Gonzalez-Granado LI, Hackett S, Kutukculer N, Alachkar H, Hambleton S, Ritterbusch H, Kralickova P, Marodi L, Seidel MG, Dueckers G, Roesler J, Huissoon A, Baxendale H, Litzman J, Arkwright PD.

J Clin Immunol. 2015 Feb;35(2):199-205. doi: 10.1007/s10875-015-0137-5. Epub 2015 Feb 8.

PMID:
25663093
31.

There's no such fool like an immunosenescent fool.

Seidel MG.

Blood. 2015 Jan 29;125(5):741-2. doi: 10.1182/blood-2014-12-614149.

32.

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.

Seidel MG, Hirschmugl T, Gamez-Diaz L, Schwinger W, Serwas N, Deutschmann A, Gorkiewicz G, Zenz W, Windpassinger C, Grimbacher B, Urban C, Boztug K.

J Allergy Clin Immunol. 2015 May;135(5):1384-90.e1-8. doi: 10.1016/j.jaci.2014.10.048. Epub 2014 Dec 22. No abstract available.

33.

Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment.

Seidel MG.

Blood. 2014 Oct 9;124(15):2337-44. doi: 10.1182/blood-2014-06-583260. Epub 2014 Aug 27. Review.

34.

Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency.

Rensing-Ehl A, Völkl S, Speckmann C, Lorenz MR, Ritter J, Janda A, Abinun M, Pircher H, Bengsch B, Thimme R, Fuchs I, Ammann S, Allgäuer A, Kentouche K, Cant A, Hambleton S, Bettoni da Cunha C, Huetker S, Kühnle I, Pekrun A, Seidel MG, Hummel M, Mackensen A, Schwarz K, Ehl S.

Blood. 2014 Aug 7;124(6):851-60. doi: 10.1182/blood-2014-03-564286. Epub 2014 Jun 3.

35.

Amphotericin B transfer to CSF following intravenous administration of liposomal amphotericin B.

Strenger V, Meinitzer A, Donnerer J, Hofer N, Dornbusch HJ, Wanz U, Seidel MG, Sperl D, Lackner H, Schwinger W, Sovinz P, Benesch M, Urban C.

J Antimicrob Chemother. 2014 Sep;69(9):2522-6. doi: 10.1093/jac/dku148. Epub 2014 Jun 2.

PMID:
24891430
36.

High response rate but short-term effect of romiplostim in paediatric refractory chronic immune thrombocytopenia.

Seidel MG, Urban C, Sipurzynski J, Beham-Schmid C, Lackner H, Benesch M.

Br J Haematol. 2014 May;165(3):419-21. doi: 10.1111/bjh.12766. Epub 2014 Feb 1. No abstract available.

PMID:
24484542
37.

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.

38.

Hemophagocytic syndrome in children with acute monoblastic leukemia-another cause of fever of unknown origin.

Lackner H, Seidel MG, Strenger V, Sovinz P, Schwinger W, Benesch M, Sperl D, Urban C.

Support Care Cancer. 2013 Dec;21(12):3519-23. doi: 10.1007/s00520-013-1937-x. Epub 2013 Aug 24.

PMID:
23975227
39.

Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia.

Rensing-Ehl A, Janda A, Lorenz MR, Gladstone BP, Fuchs I, Abinun M, Albert M, Butler K, Cant A, Cseh AM, Ebinger M, Goldacker S, Hambleton S, Hebart H, Houet L, Kentouche K, Kühnle I, Lehmberg K, Mejstrikova E, Niemeyer C, Minkov M, Neth O, Dückers G, Owens S, Rösler J, Schilling FH, Schuster V, Seidel MG, Smisek P, Sukova M, Svec P, Wiesel T, Gathmann B, Schwarz K, Vach W, Ehl S, Speckmann C.

Haematologica. 2013 Dec;98(12):1948-55. doi: 10.3324/haematol.2012.081901. Epub 2013 Jul 12.

40.

Age- and gender-related differences in teicoplanin levels in paediatric patients.

Strenger V, Hofer N, Rödl S, Hönigl M, Raggam R, Seidel MG, Dornbusch HJ, Sperl D, Lackner H, Schwinger W, Sovinz P, Benesch M, Urlesberger B, Urban C.

J Antimicrob Chemother. 2013 Oct;68(10):2318-23. doi: 10.1093/jac/dkt176. Epub 2013 May 23.

PMID:
23702837
41.

Acute promyelocytic leukemia complicated by massive intracerebral hemorrhage: safety and efficacy of replacing conventional chemotherapy with arsenic trioxide in an adolescent.

Müller E, Seidel MG, Lackner H, Dworzak M, Urban C.

Klin Padiatr. 2013 May;225(3):172-3. doi: 10.1055/s-0033-1334898. Epub 2013 Apr 26. No abstract available.

PMID:
23625686
42.

Ferritin concentrations correlate to outcome of hematopoietic stem cell transplantation but do not serve as biomarker of graft-versus-host disease.

Großekatthöfer M, Güclü ED, Lawitschka A, Matthes-Martin S, Mann G, Minkov M, Peters C, Seidel MG.

Ann Hematol. 2013 Aug;92(8):1121-8. doi: 10.1007/s00277-013-1737-x. Epub 2013 Apr 19.

PMID:
23604429
43.

B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.

Salzer E, Santos-Valente E, Klaver S, Ban SA, Emminger W, Prengemann NK, Garncarz W, Müllauer L, Kain R, Boztug H, Heitger A, Arbeiter K, Eitelberger F, Seidel MG, Holter W, Pollak A, Pickl WF, Förster-Waldl E, Boztug K.

Blood. 2013 Apr 18;121(16):3112-6. doi: 10.1182/blood-2012-10-460741. Epub 2013 Jan 14.

44.

Tick-borne encephalitis virus vaccine as additional alternative neoantigen for the clinical immunologist's toolbox.

Seidel MG, Planitzer CB, Kreil TR, Förster-Waldl E.

J Allergy Clin Immunol. 2013 Feb;131(2):617. doi: 10.1016/j.jaci.2012.11.029. Epub 2012 Dec 28. No abstract available.

PMID:
23273959
45.

Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.

Sperl D, Benesch M, Urban C, Lackner H, Sovinz P, Speicher MR, Uhrig S, Schwarzbraun T, Schwinger W, zur Stadt U, Beutel K, Janka G, Scarpatetti M, Seidel MG.

Klin Padiatr. 2012 Oct;224(6):386-9. doi: 10.1055/s-0032-1323836. Epub 2012 Nov 9.

PMID:
23143765
46.

Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.

Salzer E, Daschkey S, Choo S, Gombert M, Santos-Valente E, Ginzel S, Schwendinger M, Haas OA, Fritsch G, Pickl WF, Förster-Waldl E, Borkhardt A, Boztug K, Bienemann K, Seidel MG.

Haematologica. 2013 Mar;98(3):473-8. doi: 10.3324/haematol.2012.068791. Epub 2012 Jul 16.

47.

Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family.

Seidel MG, Rami B, Item C, Schober E, Zeitlhofer P, Huber WD, Heitger A, Bodamer OA, Haas OA.

Eur J Endocrinol. 2012 Jul;167(1):131-4. doi: 10.1530/EJE-12-0197. Epub 2012 Mar 26.

PMID:
22450550
48.

CD27: a new player in the field of common variable immunodeficiency and EBV-associated lymphoproliferative disorder?

Seidel MG.

J Allergy Clin Immunol. 2012 Apr;129(4):1175; author reply 1175-6. doi: 10.1016/j.jaci.2012.01.053. Epub 2012 Feb 25. No abstract available.

PMID:
22365582
49.

Non-atopic IgE and eosinophil cationic protein after allogeneic hematopoietic stem cell transplantation in children.

Fazekas T, Pruckner N, Lawitschka A, Seidel MG, Eickhoff P, Pötschger U, Szépfalusi Z, Gadner H, Peters C.

Ann Hematol. 2012 Jun;91(6):949-56. doi: 10.1007/s00277-011-1402-1. Epub 2012 Jan 12.

PMID:
22234839
50.

Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome.

Passerini L, Di Nunzio S, Gregori S, Gambineri E, Cecconi M, Seidel MG, Cazzola G, Perroni L, Tommasini A, Vignola S, Guidi L, Roncarolo MG, Bacchetta R.

Eur J Immunol. 2011 Apr;41(4):1120-31. doi: 10.1002/eji.201040909. Epub 2011 Mar 14.

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