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A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.
Béziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Lévy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guérin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna J, Grimbacher B, Wargon O, Bustamante J, Boisson B, Müller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL. Béziat V, et al. Among authors: chatila ta. Sci Immunol. 2018 Jun 15;3(24):eaat4956. doi: 10.1126/sciimmunol.aat4956. Sci Immunol. 2018. PMID: 29907691 Free PMC 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. 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.
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: chatila ta. 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.
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: chatila ta. Nat Immunol. 2012 May 13;13(6):612-20. doi: 10.1038/ni.2305. Nat Immunol. 2012. PMID: 22581261 Free PMC article.
259 results