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Items: 1 to 50 of 253

1.

The German National Registry of Primary Immunodeficiencies (2012-2017).

El-Helou SM, Biegner AK, Bode S, Ehl SR, Heeg M, Maccari ME, Ritterbusch H, Speckmann C, Rusch S, Scheible R, Warnatz K, Atschekzei F, Beider R, Ernst D, Gerschmann S, Jablonka A, Mielke G, Schmidt RE, Schürmann G, Sogkas G, Baumann UH, Klemann C, Viemann D, von Bernuth H, Krüger R, Hanitsch LG, Scheibenbogen CM, Wittke K, Albert MH, Eichinger A, Hauck F, Klein C, Rack-Hoch A, Sollinger FM, Avila A, Borte M, Borte S, Fasshauer M, Hauenherm A, Kellner N, Müller AH, Ülzen A, Bader P, Bakhtiar S, Lee JY, Heß U, Schubert R, Wölke S, Zielen S, Ghosh S, Laws HJ, Neubert J, Oommen PT, Hönig M, Schulz A, Steinmann S, Schwarz K, Dückers G, Lamers B, Langemeyer V, Niehues T, Shai S, Graf D, Müglich C, Schmalzing MT, Schwaneck EC, Tony HP, Dirks J, Haase G, Liese JG, Morbach H, Foell D, Hellige A, Wittkowski H, Masjosthusmann K, Mohr M, Geberzahn L, Hedrich CM, Müller C, Rösen-Wolff A, Roesler J, Zimmermann A, Behrends U, Rieber N, Schauer U, Handgretinger R, Holzer U, Henes J, Kanz L, Boesecke C, Rockstroh JK, Schwarze-Zander C, Wasmuth JC, Dilloo D, Hülsmann B, Schönberger S, Schreiber S, Zeuner R, Ankermann T, von Bismarck P, Huppertz HI, Kaiser-Labusch P, Greil J, Jakoby D, Kulozik AE, Metzler M, Naumann-Bartsch N, Sobik B, Graf N, Heine S, Kobbe R, Lehmberg K, Müller I, Herrmann F, Horneff G, Klein A, Peitz J, Schmidt N, Bielack S, Groß-Wieltsch U, Classen CF, Klasen J, Deutz P, Kamitz D, Lassay L, Tenbrock K, Wagner N, Bernbeck B, Brummel B, Lara-Villacanas E, Münstermann E, Schneider DT, Tietsch N, Westkemper M, Weiß M, Kramm C, Kühnle I, Kullmann S, Girschick H, Specker C, Vinnemeier-Laubenthal E, Haenicke H, Schulz C, Schweigerer L, Müller TG, Stiefel M, Belohradsky BH, Soetedjo V, Kindle G, Grimbacher B.

Front Immunol. 2019 Jul 19;10:1272. doi: 10.3389/fimmu.2019.01272. eCollection 2019.

2.

Lung disease in STAT3 hyper-IgE syndrome requires intense therapy.

Kröner C, Neumann J, Ley-Zaporozhan J, Hagl B, Meixner I, Spielberger BD, Dückers G, Belohradsky BH, Niehues T, Borte M, Rosenecker J, Kappler M, Nährig S, Reu S, Griese M, Renner ED.

Allergy. 2019 Sep;74(9):1691-1702. doi: 10.1111/all.13753. Epub 2019 Apr 4.

PMID:
30793327
3.

Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency.

Aydin SE, Freeman AF, Al-Herz W, Al-Mousa HA, Arnaout RK, Aydin RC, Barlogis V, Belohradsky BH, Bonfim C, Bredius RG, Chu JI, Ciocarlie OC, Doğu F, Gaspar HB, Geha RS, Gennery AR, Hauck F, Hawwari A, Hickstein DD, Hoenig M, Ikinciogullari A, Klein C, Kumar A, Ifversen MRS, Matthes S, Metin A, Neven B, Pai SY, Parikh SH, Picard C, Renner ED, Sanal Ö, Schulz AS, Schuster F, Shah NN, Shereck EB, Slatter MA, Su HC, van Montfrans J, Woessmann W, Ziegler JB, Albert MH; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and the European Society for Primary Immunodeficiencies.

J Allergy Clin Immunol Pract. 2019 Mar;7(3):848-855. doi: 10.1016/j.jaip.2018.10.035. Epub 2018 Nov 2.

PMID:
30391550
4.

Efficacy and safety of trimodulin, a novel polyclonal antibody preparation, in patients with severe community-acquired pneumonia: a randomized, placebo-controlled, double-blind, multicenter, phase II trial (CIGMA study).

Welte T, Dellinger RP, Ebelt H, Ferrer M, Opal SM, Singer M, Vincent JL, Werdan K, Martin-Loeches I, Almirall J, Artigas A, Ignacio Ayestarán J, Nuding S, Ferrer R, Sirgo Rodríguez G, Shankar-Hari M, Álvarez-Lerma F, Riessen R, Sirvent JM, Kluge S, Zacharowski K, Bonastre Mora J, Lapp H, Wöbker G, Achtzehn U, Brealey D, Kempa A, Sánchez García M, Brederlau J, Kochanek M, Reschreiter HP, Wise MP, Belohradsky BH, Bobenhausen I, Dälken B, Dubovy P, Langohr P, Mayer M, Schüttrumpf J, Wartenberg-Demand A, Wippermann U, Wolf D, Torres A.

Intensive Care Med. 2018 Apr;44(4):438-448. doi: 10.1007/s00134-018-5143-7. Epub 2018 Apr 9.

5.

TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis.

Blaschek A, V Kries R, Lohse P, Huss K, Vill K, Belohradsky BH, Heinen F, Müller-Felber W, Kümpfel T.

Eur J Paediatr Neurol. 2018 Jan;22(1):72-81. doi: 10.1016/j.ejpn.2017.08.007. Epub 2017 Sep 1.

PMID:
28927886
6.

Mutation in an exonic splicing enhancer site causing chronic granulomatous disease.

de Boer M, van Leeuwen K, Geissler J, Belohradsky BH, Kuijpers TW, Roos D.

Blood Cells Mol Dis. 2017 Jul;66:50-57. doi: 10.1016/j.bcmd.2017.08.012. Epub 2017 Aug 18.

7.

Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.

Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A, Bleesing J, Booth C, Buechner J, Buckley RH, Ouachée-Chardin M, Deripapa E, Drabko K, Eapen M, Feuchtinger T, Finocchi A, Gaspar HB, Ghosh S, Gillio A, Gonzalez-Granado LI, Grunebaum E, Güngör T, Heilmann C, Helminen M, Higuchi K, Imai K, Kalwak K, Kanazawa N, Karasu G, Kucuk ZY, Laberko A, Lange A, Mahlaoui N, Meisel R, Moshous D, Muramatsu H, Parikh S, Pasic S, Schmid I, Schuetz C, Schulz A, Schultz KR, Shaw PJ, Slatter MA, Sykora KW, Tamura S, Taskinen M, Wawer A, Wolska-Kuśnierz B, Cowan MJ, Fischer A, Gennery AR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies; Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE); Center for International Blood and Marrow Transplant Research; Primary Immunodeficiency Treatment Consortium.

J Allergy Clin Immunol. 2018 Jan;141(1):322-328.e10. doi: 10.1016/j.jaci.2017.02.036. Epub 2017 Apr 7.

8.

A human immunodeficiency syndrome caused by mutations in CARMIL2.

Schober T, Magg T, Laschinger M, Rohlfs M, Linhares ND, Puchalka J, Weisser T, Fehlner K, Mautner J, Walz C, Hussein K, Jaeger G, Kammer B, Schmid I, Bahia M, Pena SD, Behrends U, Belohradsky BH, Klein C, Hauck F.

Nat Commun. 2017 Jan 23;8:14209. doi: 10.1038/ncomms14209.

9.

Severe glucose-6-phosphate dehydrogenase deficiency leads to susceptibility to infection and absent NETosis.

Siler U, Romao S, Tejera E, Pastukhov O, Kuzmenko E, Valencia RG, Meda Spaccamela V, Belohradsky BH, Speer O, Schmugge M, Kohne E, Hoenig M, Freihorst J, Schulz AS, Reichenbach J.

J Allergy Clin Immunol. 2017 Jan;139(1):212-219.e3. doi: 10.1016/j.jaci.2016.04.041. Epub 2016 Jul 22.

PMID:
27458052
10.

Inflammatory pseudotumor (IPT)-surgical cure of an inflammatory syndrome.

Rack A, Belohradsky BH, Grantzow R, Schweinitz DV, Pfluger T, Kammer B, Girschick H, Horst D, Wintergerst U.

Eur J Pediatr. 2016 Jul;175(7):903-8. doi: 10.1007/s00431-016-2718-6. Epub 2016 Apr 12.

PMID:
27073061
11.

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
12.

Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children.

Hagl B, Heinz V, Schlesinger A, Spielberger BD, Sawalle-Belohradsky J, Senn-Rauh M, Magg T, Boos AC, Hönig M, Schwarz K, Dückers G, von Bernuth H, Pache C, Karitnig-Weiss C, Belohradsky BH, Frank J, Niehues T, Wahn V, Albert MH, Wollenberg A, Jansson AF, Renner ED.

Pediatr Allergy Immunol. 2016 Mar;27(2):177-84. doi: 10.1111/pai.12512. Epub 2016 Jan 26.

PMID:
26592211
13.

Diagnostic and Treatment Options for Severe IBD in Female X-CGD Carriers with Non-random X-inactivation.

Hauck F, Koletzko S, Walz C, von Bernuth H, Klenk A, Schmid I, Belohradsky BH, Klein C, Bufler P, Albert MH.

J Crohns Colitis. 2016 Jan;10(1):112-5. doi: 10.1093/ecco-jcc/jjv186. Epub 2015 Oct 13.

PMID:
26464403
14.

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
15.

DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.

Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, Kostyuchenko L, Genel F, Kütükcüler N, Karaca N, Gonzalez-Granado L, Abbott J, Al-Zahrani D, Rezaei N, Baz Z, Thiel J, Ehl S, Marodi L, Orange JS, Sawalle-Belohradsky J, Keles S, Holland SM, Sanal Ö, Ayvaz DC, Tezcan I, Al-Mousa H, Alsum Z, Hawwari A, Metin A, Matthes-Martin S, Hönig M, Schulz A, Picard C, Barlogis V, Gennery A, Ifversen M, van Montfrans J, Kuijpers T, Bredius R, Dückers G, Al-Herz W, Pai SY, Geha R, Notheis G, Schwarze CP, Tavil B, Azik F, Bienemann K, Grimbacher B, Heinz V, Gaspar HB, Aydin R, Hagl B, Gathmann B, Belohradsky BH, Ochs HD, Chatila T, Renner ED, Su H, Freeman AF, Engelhardt K, Albert MH; inborn errors working party of EBMT.

J Clin Immunol. 2015 Feb;35(2):189-98. doi: 10.1007/s10875-014-0126-0. Epub 2015 Jan 28.

PMID:
25627830
16.

Atopic dermatitis, STAT3- and DOCK8-hyper-IgE syndromes differ in IgE-based sensitization pattern.

Boos AC, Hagl B, Schlesinger A, Halm BE, Ballenberger N, Pinarci M, Heinz V, Kreilinger D, Spielberger BD, Schimke-Marques LF, Sawalle-Belohradsky J, Belohradsky BH, Przybilla B, Schaub B, Wollenberg A, Renner ED.

Allergy. 2014 Jul;69(7):943-53. doi: 10.1111/all.12416.

PMID:
24898675
17.

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
18.

Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation.

Murugan D, Albert MH, Langemeier J, Bohne J, Puchalka J, Järvinen PM, Hauck F, Klenk AK, Prell C, Schatz S, Diestelhorst J, Sciskala B, Kohistani N, Belohradsky BH, Müller S, Kirchner T, Walter MR, Bufler P, Muise AM, Snapper SB, Koletzko S, Klein C, Kotlarz D.

J Clin Immunol. 2014 Apr;34(3):331-9. doi: 10.1007/s10875-014-9992-8. Epub 2014 Feb 12.

PMID:
24519095
19.

Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study.

Güngör T, Teira P, Slatter M, Stussi G, Stepensky P, Moshous D, Vermont C, Ahmad I, Shaw PJ, Telles da Cunha JM, Schlegel PG, Hough R, Fasth A, Kentouche K, Gruhn B, Fernandes JF, Lachance S, Bredius R, Resnick IB, Belohradsky BH, Gennery A, Fischer A, Gaspar HB, Schanz U, Seger R, Rentsch K, Veys P, Haddad E, Albert MH, Hassan M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation.

Lancet. 2014 Feb 1;383(9915):436-48. doi: 10.1016/S0140-6736(13)62069-3. Epub 2013 Oct 23.

PMID:
24161820
20.

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
21.

A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.

Schimke LF, Rieber N, Rylaarsdam S, Cabral-Marques O, Hubbard N, Puel A, Kallmann L, Sombke SA, Notheis G, Schwarz HP, Kammer B, Hökfelt T, Repp R, Picard C, Casanova JL, Belohradsky BH, Albert MH, Ochs HD, Renner ED, Torgerson TR.

J Clin Immunol. 2013 Aug;33(6):1088-99. doi: 10.1007/s10875-013-9906-1. Epub 2013 May 25.

PMID:
23708964
22.

The German national registry for primary immunodeficiencies (PID).

Gathmann B, Goldacker S, Klima M, Belohradsky BH, Notheis G, Ehl S, Ritterbusch H, Baumann U, Meyer-Bahlburg A, Witte T, Schmidt R, Borte M, Borte S, Linde R, Schubert R, Bienemann K, Laws HJ, Dueckers G, Roesler J, Rothoeft T, Krüger R, Scharbatke EC, Masjosthusmann K, Wasmuth JC, Moser O, Kaiser P, Groß-Wieltsch U, Classen CF, Horneff G, Reiser V, Binder N, El-Helou SM, Klein C, Grimbacher B, Kindle G.

Clin Exp Immunol. 2013 Aug;173(2):372-80. doi: 10.1111/cei.12105.

23.

Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome.

Freeman AF, Renner ED, Henderson C, Langenbeck A, Olivier KN, Hsu AP, Hagl B, Boos A, Davis J, Marciano BE, Boris L, Welch P, Sawalle-Belohradsky J, Belohradsky BH, Kwong KF, Holland SM.

J Clin Immunol. 2013 Jul;33(5):896-902. doi: 10.1007/s10875-013-9890-5. Epub 2013 Apr 13.

PMID:
23584561
24.

Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.

Mizesko MC, Banerjee PP, Monaco-Shawver L, Mace EM, Bernal WE, Sawalle-Belohradsky J, Belohradsky BH, Heinz V, Freeman AF, Sullivan KE, Holland SM, Torgerson TR, Al-Herz W, Chou J, Hanson IC, Albert MH, Geha RS, Renner ED, Orange JS.

J Allergy Clin Immunol. 2013 Mar;131(3):840-8. doi: 10.1016/j.jaci.2012.12.1568. Epub 2013 Feb 4.

25.

Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype.

Kurnik K, Bartsch I, Maul-Pavicic A, Ehl S, Sandrock-Lang K, Bidlingmaier C, Rombach N, Busse A, Belohradsky BH, Müller-Höcker J, Aslanidis C, Schmitz G, Zieger B.

Platelets. 2013;24(7):538-43. doi: 10.3109/09537104.2012.741275. Epub 2012 Dec 5.

PMID:
23215637
26.

Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES).

Spielberger BD, Woellner C, Dueckers G, Sawalle-Belohradsky J, Hagl B, Anslinger K, Bayer B, Siepermann K, Niehues T, Grimbacher B, Belohradsky BH, Renner ED.

J Allergy Clin Immunol. 2012 Dec;130(6):1426-8. doi: 10.1016/j.jaci.2012.07.030. Epub 2012 Sep 13. No abstract available.

PMID:
22981789
27.

Clinical and immunological correction of DOCK8 deficiency by allogeneic hematopoietic stem cell transplantation following a reduced toxicity conditioning regimen.

Boztug H, Karitnig-Weiß C, Ausserer B, Renner ED, Albert MH, Sawalle-Belohradsky J, Belohradsky BH, Mann G, Horcher E, Rümmele-Waibel A, Geyeregger R, Lakatos K, Peters C, Lawitschka A, Matthes-Martin S.

Pediatr Hematol Oncol. 2012 Oct;29(7):585-94. Epub 2012 Aug 16.

PMID:
22897717
28.

Evaluation of correlation between dose and clinical outcomes in subcutaneous immunoglobulin replacement therapy.

Orange JS, Belohradsky BH, Berger M, Borte M, Hagan J, Jolles S, Wasserman RL, Baggish JS, Saunders R, Grimbacher B.

Clin Exp Immunol. 2012 Aug;169(2):172-81. doi: 10.1111/j.1365-2249.2012.04594.x.

29.

Hematologically important mutations: leukocyte adhesion deficiency (first update).

van de Vijver E, Maddalena A, Sanal Ö, Holland SM, Uzel G, Madkaikar M, de Boer M, van Leeuwen K, Köker MY, Parvaneh N, Fischer A, Law SK, Klein N, Tezcan FI, Unal E, Patiroglu T, Belohradsky BH, Schwartz K, Somech R, Kuijpers TW, Roos D.

Blood Cells Mol Dis. 2012 Jan 15;48(1):53-61. doi: 10.1016/j.bcmd.2011.10.004. Epub 2011 Nov 30. Review.

30.

Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation.

Meyer-Bahlburg A, Renner ED, Rylaarsdam S, Reichenbach J, Schimke LF, Marks A, Tcheurekdjian H, Hostoffer R, Brahmandam A, Torgerson TR, Belohradsky BH, Rawlings DJ, Ochs HD.

J Allergy Clin Immunol. 2012 Feb;129(2):559-62, 562.e1-2. doi: 10.1016/j.jaci.2011.09.017. Epub 2011 Oct 26. No abstract available.

PMID:
22030463
31.

Efficacy and safety of Hizentra(®) in patients with primary immunodeficiency after a dose-equivalent switch from intravenous or subcutaneous replacement therapy.

Jolles S, Bernatowska E, de Gracia J, Borte M, Cristea V, Peter HH, Belohradsky BH, Wahn V, Neufang-Hüber J, Zenker O, Grimbacher B.

Clin Immunol. 2011 Oct;141(1):90-102. doi: 10.1016/j.clim.2011.06.002. Epub 2011 Jun 12.

32.

Acellular pertussis booster in adolescents induces Th1 and memory CD8+ T cell immune response.

Rieber N, Graf A, Hartl D, Urschel S, Belohradsky BH, Liese J.

PLoS One. 2011 Mar 8;6(3):e17271. doi: 10.1371/journal.pone.0017271.

33.

Two new families with X-linked inhibitor of apoptosis deficiency and a review of all 26 published cases.

Horn PC, Belohradsky BH, Urban C, Weber-Mzell D, Meindl A, Schuster V.

J Allergy Clin Immunol. 2011 Feb;127(2):544-6. doi: 10.1016/j.jaci.2010.11.040. No abstract available.

PMID:
21281876
34.

Impaired cellular immune response to diphtheria and tetanus vaccines in children after thoracic transplantation.

Urschel S, Rieck BD, Birnbaum J, Dalla Pozza R, Rieber N, Januszewska K, Fuchs A, West LJ, Netz H, Belohradsky BH.

Pediatr Transplant. 2011 May;15(3):272-80. doi: 10.1111/j.1399-3046.2010.01468.x. Epub 2011 Jan 27.

PMID:
21272167
35.

Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation.

Bittner TC, Pannicke U, Renner ED, Notheis G, Hoffmann F, Belohradsky BH, Wintergerst U, Hauser M, Klein B, Schwarz K, Schmid I, Albert MH.

Klin Padiatr. 2010 Nov;222(6):351-5. doi: 10.1055/s-0030-1265135. Epub 2010 Nov 5.

PMID:
21058221
36.

CXCR2 mediates NADPH oxidase-independent neutrophil extracellular trap formation in cystic fibrosis airway inflammation.

Marcos V, Zhou Z, Yildirim AO, Bohla A, Hector A, Vitkov L, Wiedenbauer EM, Krautgartner WD, Stoiber W, Belohradsky BH, Rieber N, Kormann M, Koller B, Roscher A, Roos D, Griese M, Eickelberg O, Döring G, Mall MA, Hartl D.

Nat Med. 2010 Sep;16(9):1018-23. doi: 10.1038/nm.2209. Epub 2010 Sep 5. Retraction in: Nat Med. 2011 Jul;17(7):899.

PMID:
20818377
37.

Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis.

Schimke LF, Sawalle-Belohradsky J, Roesler J, Wollenberg A, Rack A, Borte M, Rieber N, Cremer R, Maass E, Dopfer R, Reichenbach J, Wahn V, Hoenig M, Jansson AF, Roesen-Wolff A, Schaub B, Seger R, Hill HR, Ochs HD, Torgerson TR, Belohradsky BH, Renner ED.

J Allergy Clin Immunol. 2010 Sep;126(3):611-7.e1. doi: 10.1016/j.jaci.2010.06.029. Erratum in: J Allergy Clin Immunol. 2010 Nov;126(5):1015.

PMID:
20816194
38.

Home-based subcutaneous immunoglobulin G replacement therapy under real-life conditions in children and adults with antibody deficiency.

Hoffmann F, Grimbacher B, Thiel J, Peter HH, Belohradsky BH; Vivaglobin Study Group.

Eur J Med Res. 2010 Jun 28;15(6):238-45.

39.

Efficacy of gene therapy for X-linked severe combined immunodeficiency.

Hacein-Bey-Abina S, Hauer J, Lim A, Picard C, Wang GP, Berry CC, Martinache C, Rieux-Laucat F, Latour S, Belohradsky BH, Leiva L, Sorensen R, Debré M, Casanova JL, Blanche S, Durandy A, Bushman FD, Fischer A, Cavazzana-Calvo M.

N Engl J Med. 2010 Jul 22;363(4):355-64. doi: 10.1056/NEJMoa1000164.

40.

Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease.

Freudenberg F, Wintergerst U, Roesen-Wolff A, Albert MH, Prell C, Strahm B, Koletzko S, Ehl S, Roos D, Tommasini A, Ventura A, Belohradsky BH, Seger R, Roesler J, Güngör T.

J Allergy Clin Immunol. 2010 Apr;125(4):943-946.e1. doi: 10.1016/j.jaci.2010.01.035. No abstract available.

PMID:
20371400
41.

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.

Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, Espanol T, Fasth A, Pellier I, Strauss G, Morio T, Gathmann B, Noordzij JG, Fillat C, Hoenig M, Nathrath M, Meindl A, Pagel P, Wintergerst U, Fischer A, Thrasher AJ, Belohradsky BH, Ochs HD.

Blood. 2010 Apr 22;115(16):3231-8. doi: 10.1182/blood-2009-09-239087. Epub 2010 Feb 19.

PMID:
20173115
42.

Lack of serologic immunity against vaccine-preventable diseases in children after thoracic transplantation.

Urschel S, Cremer S, Birnbaum J, Dallapozza R, Fuchs A, Jäger G, Schmitz C, Belohradsky BH, Netz H.

Transpl Int. 2010 Jun;23(6):619-27. doi: 10.1111/j.1432-2277.2009.01030.x. Epub 2009 Dec 16.

43.

Neurologic varicella complications before routine immunization in Germany.

Rack AL, Grote V, Streng A, Belohradsky BH, Heinen F, von Kries R, Liese JG.

Pediatr Neurol. 2010 Jan;42(1):40-8. doi: 10.1016/j.pediatrneurol.2009.07.012.

PMID:
20004861
44.

ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.

McCarl CA, Picard C, Khalil S, Kawasaki T, Röther J, Papolos A, Kutok J, Hivroz C, Ledeist F, Plogmann K, Ehl S, Notheis G, Albert MH, Belohradsky BH, Kirschner J, Rao A, Fischer A, Feske S.

J Allergy Clin Immunol. 2009 Dec;124(6):1311-1318.e7. doi: 10.1016/j.jaci.2009.10.007.

45.

The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.

Pannicke U, Hönig M, Schulze I, Rohr J, Heinz GA, Braun S, Janz I, Rump EM, Seidel MG, Matthes-Martin S, Soerensen J, Greil J, Stachel DK, Belohradsky BH, Albert MH, Schulz A, Ehl S, Friedrich W, Schwarz K.

Hum Mutat. 2010 Feb;31(2):197-207. doi: 10.1002/humu.21168.

PMID:
19953608
46.

AHR activation by tryptophan--pathogenic hallmark of Th17-mediated inflammation in eosinophilic fasciitis, eosinophilia-myalgia-syndrome and toxic oil syndrome?

Rieber N, Belohradsky BH.

Immunol Lett. 2010 Feb 16;128(2):154-5. doi: 10.1016/j.imlet.2009.11.008. Epub 2009 Nov 24.

PMID:
19941898
47.

Treatment of relapsing Mycobacterium avium infection with interferon-gamma and interleukin-2 in an HIV-negative patient with low CD4 syndrome.

Sternfeld T, Nigg A, Belohradsky BH, Bogner JR.

Int J Infect Dis. 2010 Sep;14 Suppl 3:e198-201. doi: 10.1016/j.ijid.2009.08.004. Epub 2009 Nov 25.

48.

Successful SCT for Nijmegen breakage syndrome.

Albert MH, Gennery AR, Greil J, Cale CM, Kalwak K, Kondratenko I, Mlynarski W, Notheis G, Führer M, Schmid I, Belohradsky BH.

Bone Marrow Transplant. 2010 Apr;45(4):622-6. doi: 10.1038/bmt.2009.207. Epub 2009 Aug 17.

PMID:
19684627
49.

Comèl-Netherton syndrome defined as primary immunodeficiency.

Renner ED, Hartl D, Rylaarsdam S, Young ML, Monaco-Shawver L, Kleiner G, Markert ML, Stiehm ER, Belohradsky BH, Upton MP, Torgerson TR, Orange JS, Ochs HD.

J Allergy Clin Immunol. 2009 Sep;124(3):536-43. doi: 10.1016/j.jaci.2009.06.009. Epub 2009 Aug 14. Erratum in: J Allergy Clin Immunol. 2009 Dec;124(6):1318.

50.

Severe variant of x-linked dyskeratosis congenita (Hoyeraal-Hreidarsson Syndrome) causes significant enterocolitis in early infancy.

Borggraefe I, Koletzko S, Arenz T, Fuehrer M, Hoffmann F, Dokal I, Vulliamy T, Weiler V, Griese M, Belohradsky BH, Lang T.

J Pediatr Gastroenterol Nutr. 2009 Sep;49(3):359-63. doi: 10.1097/MPG.0b013e3181a15b94. No abstract available.

PMID:
19633571

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