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Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.
Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Torgerson TR, Casanova JL, Sullivan KE, Tangye SG. Bousfiha A, et al. Among authors: chatila t. J Clin Immunol. 2020 Jan;40(1):66-81. doi: 10.1007/s10875-020-00758-x. Epub 2020 Feb 11. J Clin Immunol. 2020. PMID: 32048120 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.
Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.
Dasouki M, Okonkwo KC, Ray A, Folmsbeel CK, Gozales D, Keles S, Puck JM, Chatila T. Dasouki M, et al. Among authors: chatila t. Clin Immunol. 2011 Nov;141(2):128-32. doi: 10.1016/j.clim.2011.06.003. Epub 2011 Jun 21. Clin Immunol. 2011. PMID: 21763205 Free PMC article.
Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.
Al-Herz W, Ragupathy R, Massaad MJ, Al-Attiyah R, Nanda A, Engelhardt KR, Grimbacher B, Notarangelo L, Chatila T, Geha RS. Al-Herz W, et al. Among authors: chatila t. Clin Immunol. 2012 Jun;143(3):266-72. doi: 10.1016/j.clim.2012.03.002. Epub 2012 Mar 30. Clin Immunol. 2012. PMID: 22534316 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. Nat Immunol. 2012 May 13;13(6):612-20. doi: 10.1038/ni.2305. Nat Immunol. 2012. PMID: 22581261 Free PMC article.
261 results