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Page 1
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. Aydin SE, et al. Among authors: sawalle belohradsky j. J Clin Immunol. 2015 Feb;35(2):189-98. doi: 10.1007/s10875-014-0126-0. Epub 2015 Jan 28. J Clin Immunol. 2015. PMID: 25627830
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
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. Schimke LF, et al. J Allergy Clin Immunol. 2010 Sep;126(3):611-7.e1. doi: 10.1016/j.jaci.2010.06.029. J Allergy Clin Immunol. 2010. PMID: 20816194
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. Hagl B, et al. Among authors: sawalle belohradsky j. Pediatr Allergy Immunol. 2016 Mar;27(2):177-84. doi: 10.1111/pai.12512. Epub 2016 Jan 26. Pediatr Allergy Immunol. 2016. PMID: 26592211
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. Boztug H, et al. Pediatr Hematol Oncol. 2012 Oct;29(7):585-94. doi: 10.3109/08880018.2012.714844. Epub 2012 Aug 16. Pediatr Hematol Oncol. 2012. PMID: 22897717
Beneficial IFN-α treatment of tumorous herpes simplex blepharoconjunctivitis in dedicator of cytokinesis 8 deficiency.
Papan C, Hagl B, Heinz V, Albert MH, Ehrt O, Sawalle-Belohradsky J, Neumann J, Ries M, Bufler P, Wollenberg A, Renner ED. Papan C, et al. Among authors: sawalle belohradsky j. J Allergy Clin Immunol. 2014 May;133(5):1456-8. doi: 10.1016/j.jaci.2014.02.008. Epub 2014 Apr 1. J Allergy Clin Immunol. 2014. PMID: 24698314 No abstract available.
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. Spielberger BD, et al. J Allergy Clin Immunol. 2012 Dec;130(6):1426-8. doi: 10.1016/j.jaci.2012.07.030. Epub 2012 Sep 13. J Allergy Clin Immunol. 2012. PMID: 22981789 No abstract available.
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. Freeman AF, et al. Among authors: sawalle belohradsky j. J Clin Immunol. 2013 Jul;33(5):896-902. doi: 10.1007/s10875-013-9890-5. Epub 2013 Apr 13. J Clin Immunol. 2013. PMID: 23584561
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