{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T23:02:40Z","timestamp":1783465360444,"version":"3.55.0"},"reference-count":7,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1982,6]]},"abstract":"<jats:p>Hashimoto's thyroiditis, autoimmune adrenalitis, pernicious anaemia, and diabetes mellitus are all recognised associations with Down's syndrome. In addition chronic active hepatitis (CAH) resulting from chronic hepatitis B antigenaemia is known to occur in these patients, but an association of autoimmune CAH and Down's syndrome has not previously been described. We report a case in which Down's syndrome was associated with autoimmune CAH, Hashimoto's thyroiditis, and alopecia areata.<\/jats:p>","DOI":"10.1136\/jmg.19.3.232","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"232-234","source":"Crossref","is-referenced-by-count":25,"title":["Autoimmune chronic active hepatitis in Down's syndrome"],"prefix":"10.1136","volume":"19","author":[{"given":"Alan J","family":"McCulloch","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul G","family":"Ince","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pat","family":"Kendall-Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1982,6,1]]},"reference":[{"key":"ref_1","first-page":"1253","article-title":"Community study of hypothyroidism in Down's syndrome","volume":"i:","author":"E, De Lobo; M, Khan; J, Tew","year":"1980","unstructured":"De Lobo E, Khan M, Tew J. Community study of hypothyroidism in Down's syndrome. Br Med J 1980;i: 1253.","journal-title":"Br Med J"},{"key":"ref_2","first-page":"794","article-title":"Down's syndrome and thyroid function in adults","volume":"ii:","author":"Baxter, R.C.; Larkins, R.G.; Martin, F.I.R.; Heyma, P.; Miles, K.; Ryan, L.Y.","year":"1975","unstructured":"Baxter RC, Larkins RG, Martin FIR, Heyma P, Miles K, Ryan LY. Down's syndrome and thyroid function in adults. Lancet 1975;ii:794-6.","journal-title":"Lancet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/S0140-6736(77)91763-9","article-title":"Stress deficiency of the T lymphocyte system exemplified by Down's syndrome","volume":"i:","author":"Whittingham, S.; Pitt, D.B.; Sharma, D.L.","year":"1977","unstructured":"Whittingham S, Pitt DB, Sharma DL, et al. Stress deficiency of the T lymphocyte system exemplified by Down's syndrome. Lancet 1977;i:163-6.","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1007\/BF00493546","article-title":"Immunity in Down's syndrome","volume":"127","author":"Burgio, G.R.; Ugazio, A.G.","year":"1978","unstructured":"Burgio GR, Ugazio AG. Immunity in Down's syndrome. Eur JPediatr 1978;127:293-4.","journal-title":"Eur JPediatr"},{"key":"ref_5","first-page":"237","article-title":"Immunologic characteristics of Down's syndrome","volume":"21","author":"Gershwin, M.E.; Crinella, F.M.; Castles, J.J.; Trent, J.K.","year":"1977","unstructured":"Gershwin ME, Crinella FM, Castles JJ, Trent JK. Immunologic characteristics of Down's syndrome. JMent Defic Res 1977;21:237-49.","journal-title":"JMent Defic Res"},{"key":"ref_6","article-title":"became infected and a left pseudarthrosis was created. She was then asymptomatic until 39 years of age when she developed pain in the region of her right hip, and in 1974 required right total hip replacement. The excised femoral head showed severe anatomical distortion in addition to secondary osteoarthrosis (fig 1). Since 1980 she has had symptoms from osteoarthrosis of the left shoulder and in 1981 she underwent cholecystectomy for gallstones. Her periods started at the age of 16 years and have been regular. She has never been pregnant. Despite her disabilities she has been a full-time sewing machinist since 1954. Examination at 47 years of age revealed a height of 127 cm, upper segment 62 cm, lower segment 65 cm, arm span 141 cm, and weight 50 kg","year":"2).","unstructured":"became infected and a left pseudarthrosis was created. She was then asymptomatic until 39 years of age when she developed pain in the region of her right hip, and in 1974 required right total hip replacement. The excised femoral head showed severe anatomical distortion in addition to secondary osteoarthrosis (fig 1). Since 1980 she has had symptoms from osteoarthrosis of the left shoulder and in 1981 she underwent cholecystectomy for gallstones. Her periods started at the age of 16 years and have been regular. She has never been pregnant. Despite her disabilities she has been a full-time sewing machinist since 1954. Examination at 47 years of age revealed a height of 127 cm, upper segment 62 cm, lower segment 65 cm, arm span 141 cm, and weight 50 kg (fig 2)."},{"key":"ref_7","article-title":"The proband was born in 1934. She was the fifth child of non-consanguineous parents and no other family members are similarly affected. Her father was 39 years old and her mother 32 years old at the time of her birth. She was normal at birth but stopped growing at about 14 years of age. In 1960, aged 26 years, she underwent left total hip replacement because of severe osteoarthrosis. This relieved her symptoms, but two years later the prosthesis Received for publication","year":"1981","unstructured":"The proband was born in 1934. She was the fifth child of non-consanguineous parents and no other family members are similarly affected. Her father was 39 years old and her mother 32 years old at the time of her birth. She was normal at birth but stopped growing at about 14 years of age. In 1960, aged 26 years, she underwent left total hip replacement because of severe osteoarthrosis. This relieved her symptoms, but two years later the prosthesis Received for publication 16 October 1981"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.19.3.232","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:40:37Z","timestamp":1759686037000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.19.3.232"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,6]]},"references-count":7,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1982,6,1]]},"published-print":{"date-parts":[[1982,6]]}},"alternative-id":["10.1136\/jmg.19.3.232"],"URL":"https:\/\/doi.org\/10.1136\/jmg.19.3.232","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1982,6]]}}}