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143 results

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Page 1
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T, Siepermann K, Weinspach S, Reisli I, Keles S, Genel F, Kutukculer N, Camcioğlu Y, Somer A, Karakoc-Aydiner E, Barlan I, Gennery A, Metin A, Degerliyurt A, Pietrogrande MC, Yeganeh M, Baz Z, Al-Tamemi S, Klein C, Puck JM, Holland SM, McCabe ER, Grimbacher B, Chatila TA. Engelhardt KR, et al. Among authors: reisli i. J Allergy Clin Immunol. 2009 Dec;124(6):1289-302.e4. doi: 10.1016/j.jaci.2009.10.038. J Allergy Clin Immunol. 2009. PMID: 20004785 Free PMC article.
An antibody-deficiency syndrome due to mutations in the CD19 gene.
van Zelm MC, Reisli I, van der Burg M, Castaño D, van Noesel CJ, van Tol MJ, Woellner C, Grimbacher B, Patiño PJ, van Dongen JJ, Franco JL. van Zelm MC, et al. Among authors: reisli i. N Engl J Med. 2006 May 4;354(18):1901-12. doi: 10.1056/NEJMoa051568. N Engl J Med. 2006. PMID: 16672701 Free article.
Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome.
Al Khatib S, Keles S, Garcia-Lloret M, Karakoc-Aydiner E, Reisli I, Artac H, Camcioglu Y, Cokugras H, Somer A, Kutukculer N, Yilmaz M, Ikinciogullari A, Yegin O, Yüksek M, Genel F, Kucukosmanoglu E, Baki A, Bahceciler NN, Rambhatla A, Nickerson DW, McGhee S, Barlan IB, Chatila T. Al Khatib S, et al. Among authors: reisli i. J Allergy Clin Immunol. 2009 Aug;124(2):342-8, 348.e1-5. doi: 10.1016/j.jaci.2009.05.004. Epub 2009 Jul 3. J Allergy Clin Immunol. 2009. PMID: 19577286 Free PMC article.
DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation.
Jabara HH, McDonald DR, Janssen E, Massaad MJ, Ramesh N, Borzutzky A, Rauter I, Benson H, Schneider L, Baxi S, Recher M, Notarangelo LD, Wakim R, Dbaibo G, Dasouki M, Al-Herz W, Barlan I, Baris S, Kutukculer N, Ochs HD, Plebani A, Kanariou M, Lefranc G, Reisli I, Fitzgerald KA, Golenbock D, Manis J, Keles S, Ceja R, Chatila TA, Geha RS. Jabara HH, et al. Among authors: reisli i. Nat Immunol. 2012 May 13;13(6):612-20. doi: 10.1038/ni.2305. Nat Immunol. 2012. PMID: 22581261 Free PMC article.
Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-α 2b therapy.
Keles S, Jabara HH, Reisli I, McDonald DR, Barlan I, Hanna-Wakim R, Dbaibo G, Lefranc G, Al-Herz W, Geha RS, Chatila TA. Keles S, et al. Among authors: reisli i. J Allergy Clin Immunol. 2014 Jun;133(6):1753-5.e3. doi: 10.1016/j.jaci.2014.03.032. Epub 2014 Apr 24. J Allergy Clin Immunol. 2014. PMID: 24767873 Free PMC article. No abstract available.
CD3G gene defects in familial autoimmune thyroiditis.
Gokturk B, Keles S, Kirac M, Artac H, Tokgoz H, Guner SN, Caliskan U, Caliskaner Z, van der Burg M, van Dongen J, Morgan NV, Reisli I. Gokturk B, et al. Among authors: reisli i. Scand J Immunol. 2014 Nov;80(5):354-61. doi: 10.1111/sji.12200. Scand J Immunol. 2014. PMID: 24910257 Free article.
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.
Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, Saghafi S, Pourpak Z, Ceja R, Sassi A, Graham LE, Massaad MJ, Mellouli F, Ben-Mustapha I, Khemiri M, Kilic SS, Etzioni A, Freeman AF, Thiel J, Schulze I, Al-Herz W, Metin A, Sanal Ö, Tezcan I, Yeganeh M, Niehues T, Dueckers G, Weinspach S, Patiroglu T, Unal E, Dasouki M, Yilmaz M, Genel F, Aytekin C, Kutukculer N, Somer A, Kilic M, Reisli I, Camcioglu Y, Gennery AR, Cant AJ, Jones A, Gaspar BH, Arkwright PD, Pietrogrande MC, Baz Z, Al-Tamemi S, Lougaris V, Lefranc G, Megarbane A, Boutros J, Galal N, Bejaoui M, Barbouche MR, Geha RS, Chatila TA, Grimbacher B. Engelhardt KR, et al. Among authors: reisli i. J Allergy Clin Immunol. 2015 Aug;136(2):402-12. doi: 10.1016/j.jaci.2014.12.1945. Epub 2015 Feb 25. J Allergy Clin Immunol. 2015. PMID: 25724123 Free PMC article.
143 results