{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T21:48:53Z","timestamp":1790027333345,"version":"4.0.1"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,7,23]],"date-time":"2021-07-23T00:00:00Z","timestamp":1626998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,7,23]],"date-time":"2021-07-23T00:00:00Z","timestamp":1626998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Autosomal recessive hyper-IgE syndrome (AR-HIES) caused by\n                      <jats:italic>DOCK8<\/jats:italic>\n                      gene is a rare immunodeficiency disease, the main clinical manifestations include recurrent Eczema-like rash, skin and lung abscesses, accompanied with increased serum IgE level. Here, we report a 7-year-old Chinese girl with a new clinic features caused by\n                      <jats:italic>DOCK8<\/jats:italic>\n                      gene mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A 7-year-old girl was admitted to our hospital because of abnormal walking posture. The clinical manifestations of the patient included abnormal gait, eczema-like rash, fingertip abscess, high muscle tone, and facial paralysis. Among them, high muscle tone and facial paralysis are new clinic features which have not been reported previously. The blood eosinophils and serum IgE levels were significantly increased, and the lymphocyte subsets indicated a decrease of T lymphocytes. The magnetic resonance imaging (MRI) of her brain suggested myelin dysplasia and brain atrophy. Two novel compound heterozygous mutations (c.1868\u2009+\u20092\u00a0T\u2009&gt;\u2009C and c.5962-2A\u2009&gt;\u2009G) of\n                      <jats:italic>DOCK8<\/jats:italic>\n                      gene were identified by whole exome sequencing. By literature review, there are 11 mutations of\n                      <jats:italic>DOCK8<\/jats:italic>\n                      gene in Chinese AR-HIES patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Two novel splice-site mutations(c.1868\u2009+\u20092\u00a0T\u2009&gt;\u2009C and c.5962-2A\u2009&gt;\u2009G) of\n                      <jats:italic>DOCK8<\/jats:italic>\n                      gene and new clinic features were found in a Chinese girl with AR-HIES, which extends our understanding of\n                      <jats:italic>DOCK8<\/jats:italic>\n                      gene mutation spectrum and phenotype of AR-HIES in children.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12883-021-02324-3","type":"journal-article","created":{"date-parts":[[2021,7,23]],"date-time":"2021-07-23T02:03:04Z","timestamp":1627005784000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation with new clinical features: a case report"],"prefix":"10.1186","volume":"21","author":[{"given":"Jing","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,7,23]]},"reference":[{"issue":"7445","key":"2324_CR1","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1016\/S0140-6736(66)90119-X","volume":"1","author":"SD Davis","year":"1966","unstructured":"Davis SD, Schaller J, Wedgwood RJ. 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A copy of the written consent is available for review by the Editor of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"288"}}