{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T01:03:16Z","timestamp":1785805396766,"version":"3.56.0"},"reference-count":33,"publisher":"The Endocrine Society","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2000,1,1]]},"abstract":"<jats:p>Autoantibodies against aromatic l-amino acid decarboxylase (AADC) are present in about 50 percent of sera from patients with autoimmune polyendocrine syndrome type I (APS I) but absent in sera from patients with different organ-specific autoimmune diseases, such as insulin-dependent diabetes mellitus, Hashimoto\u2019s thyroiditis, and Graves\u2019 disease. AADC is expressed in the pancreatic \u03b2-cells, the liver, and the nervous system; and the presence of AADC antibodies has been shown to correlate to hepatitis and vitiligo in APS I patients.<\/jats:p>\n               <jats:p>Among 101 investigated patients with autoimmune Addison\u2019s disease, 15 had high titers of AADC antibodies. According to the clinical characteristics of these patients, only 3 had APS I. The remaining 12 had either isolated Addison\u2019s disease or associated diabetes mellitus, hypothyroidism, vitiligo, alopecia, gonadal failure, and pernicious anemia. Autoantibodies against 21-hydroxylase were present in 9 of 12, whereas autoantibodies against side-chain cleavage enzyme and 17\u03b1-hydroxylase were present in 3 of 12. Two patients had only autoantibodies against AADC. DNA was available from 3 of these 12 patients. One of the patients, a woman with Addison\u2019s disease, autoimmune thyroiditis, and premature menopause was heterozygous for a point mutation (G1021A, Val301Met) in the first plant homeodomain zinc finger domain of the autoimmune regulator (AIRE) gene.<\/jats:p>\n               <jats:p>The presence of AADC autoantibodies identifies patients with APS I and a subgroup of Addison patients who may have a milder atypical form of APS I or represent a distinct entity. Measurement of autoantibodies against AADC should be included in the evaluation of Addison\u2019s disease.<\/jats:p>","DOI":"10.1210\/jcem.85.1.6266","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T17:05:28Z","timestamp":1389200728000},"page":"460-463","source":"Crossref","is-referenced-by-count":1,"title":["Autoantibodies against Aromatic l-Amino Acid Decarboxylase Identifies a Subgroup of Patients with Addison\u2019s Disease1"],"prefix":"10.1210","volume":"85","author":[{"given":"Annika","family":"So\u0308derbergh","sequence":"first","affiliation":[{"name":"Department of Clinical Sciences (A.S., F.R., O.E., O.K.), University Hospital, SE-751 85 Uppsala, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fredrik","family":"Rorsman","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences (A.S., F.R., O.E., O.K.), University Hospital, SE-751 85 Uppsala, 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