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Page 1
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation.
Hagl B, Spielberger BD, Thoene S, Bonnal S, Mertes C, Winter C, Nijman IJ, Verduin S, Eberherr AC, Puel A, Schindler D, Ruland J, Meitinger T, Gagneur J, Orange JS, van Gijn ME, Renner ED. Hagl B, et al. Among authors: orange js. Sci Rep. 2018 Nov 13;8(1):16719. doi: 10.1038/s41598-018-34953-z. Sci Rep. 2018. PMID: 30425284 Free PMC article.
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. Renner ED, et al. Among authors: orange js. J Allergy Clin Immunol. 2009 Sep;124(3):536-43. doi: 10.1016/j.jaci.2009.06.009. Epub 2009 Aug 14. J Allergy Clin Immunol. 2009. PMID: 19683336 Free PMC article.
CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia.
van Montfrans JM, Hoepelman AI, Otto S, van Gijn M, van de Corput L, de Weger RA, Monaco-Shawver L, Banerjee PP, Sanders EA, Jol-van der Zijde CM, Betts MR, Orange JS, Bloem AC, Tesselaar K. van Montfrans JM, et al. Among authors: orange js. J Allergy Clin Immunol. 2012 Mar;129(3):787-793.e6. doi: 10.1016/j.jaci.2011.11.013. Epub 2011 Dec 24. J Allergy Clin Immunol. 2012. PMID: 22197273 Free PMC article.
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. Mizesko MC, et al. Among authors: orange js. J Allergy Clin Immunol. 2013 Mar;131(3):840-8. doi: 10.1016/j.jaci.2012.12.1568. Epub 2013 Feb 4. J Allergy Clin Immunol. 2013. PMID: 23380217 Free PMC article.
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: orange js. 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
Monoallelic expression can govern penetrance of inborn errors of immunity.
Stewart O, Gruber C, Randolph HE, Patel R, Ramba M, Calzoni E, Huang LH, Levy J, Buta S, Lee A, Sazeides C, Prue Z, Hoytema van Konijnenburg DP, Chinn IK, Pedroza LA, Lupski JR, Schmitt EG, Cooper MA, Puel A, Peng X, Boisson-Dupuis S, Bustamante J, Okada S, Martin-Fernandez M, Orange JS, Casanova JL, Milner JD, Bogunovic D. Stewart O, et al. Among authors: orange js. Nature. 2025 Jan 1. doi: 10.1038/s41586-024-08346-4. Online ahead of print. Nature. 2025. PMID: 39743591
IL-2 in the tumor microenvironment is necessary for Wiskott-Aldrich syndrome protein deficient NK cells to respond to tumors in vivo.
Kritikou JS, Dahlberg CI, Baptista MA, Wagner AK, Banerjee PP, Gwalani LA, Poli C, Panda SK, Kärre K, Kaech SM, Wermeling F, Andersson J, Orange JS, Brauner H, Westerberg LS. Kritikou JS, et al. Among authors: orange js. Sci Rep. 2016 Aug 1;6:30636. doi: 10.1038/srep30636. Sci Rep. 2016. PMID: 27477778 Free PMC article.
376 results