{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:27:22Z","timestamp":1791289642486,"version":"4.3.0"},"reference-count":51,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,1,3]],"date-time":"2012-01-03T00:00:00Z","timestamp":1325548800000},"content-version":"vor","delay-in-days":33,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:p>The discovery that loss\u2010of\u2010function mutations in the gene <jats:italic>DOCK8<\/jats:italic> are responsible for most forms of autosomal recessive hyper\u2010IgE syndrome and some forms of combined immunodeficiency without elevated serum IgE has led to studies into the immunopathogenesis of this disease. In this review, we relate the clinical features of this disease to studies using patients\u2019 cells and a mouse model of Dock8 deficiency, which have revealed how DOCK8 regulates T and B cell numbers and functions. The results of these studies help to explain how the absence of DOCK8 contributes to patients\u2019 susceptibility to viral, fungal, and bacterial infections. However, unanswered questions remain regarding how the absence of DOCK8 also leads to high IgE and allergic disease, predisposition for malignancy, and unusual clinical features, such as CNS abnormalities and autoimmunity, observed in some patients.<\/jats:p>","DOI":"10.1111\/j.1749-6632.2011.06295.x","type":"journal-article","created":{"date-parts":[[2012,1,5]],"date-time":"2012-01-05T07:41:23Z","timestamp":1325749283000},"page":"26-33","source":"Crossref","is-referenced-by-count":81,"title":["DOCK8 deficiency"],"prefix":"10.1111","volume":"1246","author":[{"given":"Helen C.","family":"Su","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huie","family":"Jing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,1,3]]},"reference":[{"key":"e_1_2_13_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0905506"},{"key":"e_1_2_13_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2009.10.038"},{"key":"e_1_2_13_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2004.06.095"},{"key":"e_1_2_13_5_2","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.00219"},{"key":"e_1_2_13_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/nri2606"},{"key":"e_1_2_13_7_2","doi-asserted-by":"publisher","DOI":"10.1155\/2010\/580197"},{"key":"e_1_2_13_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature06096"},{"key":"e_1_2_13_9_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa073687"},{"key":"e_1_2_13_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2009.10.059"},{"key":"e_1_2_13_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(03)00449-9"},{"key":"e_1_2_13_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2006.09.009"},{"key":"e_1_2_13_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2007.05.007"},{"key":"e_1_2_13_14_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2011.089128"},{"key":"e_1_2_13_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2008.10.023"},{"key":"e_1_2_13_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/eji.201141759"},{"key":"e_1_2_13_17_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20110345"},{"key":"e_1_2_13_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2011.06.003"},{"key":"e_1_2_13_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/ni.1820"},{"key":"e_1_2_13_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/35090591"},{"key":"e_1_2_13_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2004.07.012"},{"key":"e_1_2_13_22_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20061780"},{"key":"e_1_2_13_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1074-7613(03)00169-9"},{"key":"e_1_2_13_24_2","doi-asserted-by":"publisher","DOI":"10.1038\/ni1506"},{"key":"e_1_2_13_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2011.03.025"},{"key":"e_1_2_13_26_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20091776"},{"key":"e_1_2_13_27_2","doi-asserted-by":"publisher","DOI":"10.1155\/2010\/781523"},{"key":"e_1_2_13_28_2","doi-asserted-by":"publisher","DOI":"10.1155\/2010\/475104"},{"key":"e_1_2_13_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2009.05.004"},{"key":"e_1_2_13_30_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature06764"},{"key":"e_1_2_13_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2010.06.029"},{"key":"e_1_2_13_32_2","doi-asserted-by":"publisher","DOI":"10.1155\/2010\/972591"},{"key":"e_1_2_13_33_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1200439"},{"key":"e_1_2_13_34_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20080218"},{"key":"e_1_2_13_35_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20080321"},{"key":"e_1_2_13_36_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2008.04.037"},{"key":"e_1_2_13_37_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20082767"},{"key":"e_1_2_13_38_2","doi-asserted-by":"publisher","DOI":"10.1038\/ni.1995"},{"key":"e_1_2_13_39_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0030-1265135"},{"key":"e_1_2_13_40_2","doi-asserted-by":"publisher","DOI":"10.1097\/ACI.0b013e32833fd718"},{"key":"e_1_2_13_41_2","doi-asserted-by":"publisher","DOI":"10.1097\/00000372-200012000-00008"},{"key":"e_1_2_13_42_2","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20253"},{"key":"e_1_2_13_43_2","first-page":"321","article-title":"Homozygous deletion and reduced expression of the DOCK8 gene in human lung cancer","volume":"28","author":"Takahashi K.","year":"2006","journal-title":"Int. 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