@article{engelhardt:pasteur-01375326, TITLE = {{Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome}}, AUTHOR = {Engelhardt, Karin R. and Mcghee, Sean and Winkler, Sabine and Sassi, Atfa and Woellner, Cristina and Lopez-Herrera, Gabriela and Chen, Andrew and Kim, Hong Sook and Lloret, Maria Garcia and Schulze, Ilka and Ehl, Stephan and Thiel, Jens and Pfeifer, Dietmar and Veelken, Hendrik and Weinspach, Sebastian and Reisli, Ismail and Keles, Sevgi and Genel, Ferah and Kutuculer, Necil and Camcioglu, Yildiz and Somer, Ayper and Karakoc-Aydiner, Elif and Barlan, Isil and Gennery, Andrew and Metin, Ayse and Degerliyurt, Aydan and Pietrogrande, Maria C. and Siepermann, Kathrin and Baz, Zeina and Al-Tamemi, Salem and Klein, Christoph and Puck, Jennifer M. and Holland, Steven M. and Niehues, Tim and Mccabe, Edward R. B. and Grimbacher, Bodo and Yeganeh, Mehdi and Chatila, Talal A.}, URL = {https://riip.hal.science/pasteur-01375326}, JOURNAL = {{Journal of Allergy and Clinical Immunology}}, PUBLISHER = {{Elsevier}}, VOLUME = {124}, NUMBER = {6}, PAGES = {1289-1302}, YEAR = {2009}, MONTH = Dec, DOI = {10.1016/j.jaci.2009.10.038}, KEYWORDS = {Autosomal recessive hyper-IgE syndrome ; human gene mutation ; DOCK8 ; primary immunodeficiency ; molluscum contagiosum ; recurrent infection ; T cells ; T(H)17 cells ; eosinophils ; IgE regulation ; copy number variations ; genomic deletions}, HAL_ID = {pasteur-01375326}, HAL_VERSION = {v1}, }