{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T19:10:24Z","timestamp":1700421024634},"reference-count":6,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2001,5,29]],"date-time":"2001-05-29T00:00:00Z","timestamp":991094400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2001,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present an 11\u2010year\u2010old girl with sensory and autonomic neurological dysfunction, and respiratory insufficiency caused by recurrent aspiration. The diagnosis of familial dysautonomia (FD) was confirmed by a missing axonal flare to histamine, miosis in response to conjunctival methacholine and homozygous polymorphic linked markers DS58(18) and DS159(7) on chromosome 9. Ashkenazi Jewish descent could not be ascertained by history. A variety of positive tests for autoantibodies were initially interpreted as evidence for systemic lupus erythematosus vs. overlap syndrome with pulmonary, cerebral, skin, and ocular involvement. The diagnosis of FD was delayed because of the rarity of this disorder in Germany (second case reported). We discuss possible explanations for the misleading immunological findings, including interference by antibodies binding to milk proteins used as blocking reagents in enzyme\u2010linked immunoassays and circulating immune\u2010complexes due to chronic aspiration pneumonitis. Pediatr Pulmonol. 2001; 31:478\u2013481. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ppul.1078","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T20:40:11Z","timestamp":1030308011000},"page":"478-481","source":"Crossref","is-referenced-by-count":1,"title":["Familial dysautonomia: A diagnostic dilemma. Chronic lung disease with signs of an autoimmune disease"],"prefix":"10.1002","volume":"31","author":[{"given":"A.W.A.","family":"van Egmond\u2010Fr\u00f6hlich","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Paul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Eggert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Gaedicke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U.","family":"Wahn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.\u2010P.","family":"Bauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,5,29]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970150905"},{"key":"e_1_2_1_3_2","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1542\/peds.67.4.517","article-title":"Progressive sensory loss in familial dysautonomia","volume":"67","author":"Axelrod FB","year":"1981","journal-title":"Pediatrics"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80130-3"},{"key":"e_1_2_1_5_2","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1542\/peds.44.2.265","article-title":"Milk antibodies in familial dysautonomia","volume":"44","author":"Drucker MM","year":"1969","journal-title":"Pediatrics"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2222.1972.tb01301.x"},{"key":"e_1_2_1_7_2","first-page":"57","article-title":"Immune complexes in cystic fibrosis","volume":"85","author":"Schiotz PO","year":"1977","journal-title":"Acta Pathol Microbiol Immunol Scand [C]"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.1078","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.1078","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T18:42:34Z","timestamp":1700419354000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.1078"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,5,29]]},"references-count":6,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2001,6]]}},"alternative-id":["10.1002\/ppul.1078"],"URL":"https:\/\/doi.org\/10.1002\/ppul.1078","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,5,29]]}}}