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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: notheis g. 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
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. Schimke LF, et al. Among authors: notheis g. J Clin Immunol. 2013 Aug;33(6):1088-99. doi: 10.1007/s10875-013-9906-1. Epub 2013 May 25. J Clin Immunol. 2013. PMID: 23708964
Molecular Assessment of Staphylococcus Aureus Strains in STAT3 Hyper-IgE Syndrome Patients.
Schwierzeck V, Effner R, Abel F, Reiger M, Notheis G, Held J, Simon V, Dintner S, Hoffmann R, Hagl B, Huebner J, Mellmann A, Renner ED. Schwierzeck V, et al. Among authors: notheis g. J Clin Immunol. 2022 Aug;42(6):1301-1309. doi: 10.1007/s10875-022-01293-7. Epub 2022 Jun 2. J Clin Immunol. 2022. PMID: 35655107 Free PMC article.
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. Albert MH, et al. Among authors: notheis g. Bone Marrow Transplant. 2010 Apr;45(4):622-6. doi: 10.1038/bmt.2009.207. Epub 2009 Aug 17. Bone Marrow Transplant. 2010. PMID: 19684627
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. Gathmann B, et al. Among authors: notheis g. Clin Exp Immunol. 2013 Aug;173(2):372-80. doi: 10.1111/cei.12105. Clin Exp Immunol. 2013. PMID: 23607573 Free PMC article.
60 results