{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:50:50Z","timestamp":1788871850582,"version":"build-2803163510"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,9,18]],"date-time":"2013-09-18T00:00:00Z","timestamp":1379462400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"none reported"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive type of combined immunodeficiency with elevated IgE. In this report, we describe a Japanese girl of non\u2010consanguineous family suffering from acute eosinophilic pneumonia (AEP) as a presenting feature of DOCK8 deficiency. Although AEP was self\u2010limiting, consecutively experienced recurrent respiratory infections, severe atopic dermatitis, and vulnerability to viral infections, prompted us to evaluate the possibility of DOCK8 deficiency. Immunological assessments demonstrated decreased IgM, increased IgE, T lymphocytepenia, especially in CD4 T cells, decreased PHA blastogenesis, and decreased CD27\n                      <jats:sup>+<\/jats:sup>\n                      CD19\n                      <jats:sup>+<\/jats:sup>\n                      memory B cells. Western blotting revealed the absence of DOCK8 protein. Investigation of genomic DNA by multiplex ligation\u2010dependent probe amplification (MLPA) revealed a heterozygous large deletion of 77\u2009kb spanning from intron 5 to exon 22. DOCK8 cDNA sequencing revealed a nonsense mutation at position 740 (E740X). As far as we know, this is the first Japanese case of DOCK8 deficiency.\n                      <jats:bold>Pediatr Pulmonol. 2014; 49:E52\u2013E55.<\/jats:bold>\n                      \u00a9 2013 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ppul.22814","type":"journal-article","created":{"date-parts":[[2013,10,8]],"date-time":"2013-10-08T10:32:04Z","timestamp":1381228324000},"source":"Crossref","is-referenced-by-count":7,"title":["Acute eosinophilic pneumonia occurring in a dedicator of cytokinesis 8 (DOCK8) deficient patient"],"prefix":"10.1002","volume":"49","author":[{"given":"Ikuya","family":"Tsuge","sequence":"first","affiliation":[{"name":"Department of Pediatrics Fujita Health University Toyoake Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Komei","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Allergy Aichi Children's Health and Medical Center Obu\u2010city Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamae","family":"Ohye","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetics Institute for Comprehensive Medical Science, Fujita Health University Toyoake Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoyuki","family":"Kando","sequence":"additional","affiliation":[{"name":"Department of Allergy Aichi Children's Health and Medical Center Obu\u2010city Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuto","family":"Kondo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fujita Health University Toyoake Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoichi","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fujita Health University Toyoake Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chisato","family":"Inuo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fujita Health University Toyoake Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroki","family":"Kurahashi","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetics Institute for Comprehensive Medical Science, Fujita Health University Toyoake Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsuo","family":"Urisu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fujita Health University Toyoake Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,9,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1398-9995.2005.00812.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0905506"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2009.10.038"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.2112056"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature06764"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20100799"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0610289104"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/83713"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2011.06.003"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.22814","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.22814","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.22814","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T02:53:16Z","timestamp":1696474396000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.22814"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9,18]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["10.1002\/ppul.22814"],"URL":"https:\/\/doi.org\/10.1002\/ppul.22814","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,9,18]]}}}