{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T18:21:14Z","timestamp":1763749274097,"version":"3.45.0"},"reference-count":26,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"published-print":{"date-parts":[[1971,10]]},"abstract":"<jats:p>Two cases of Tangier disease are described in children from families unrelated to each other. Necropsy in one case, the first to be reported in this condition, showed large collections of cholesterol-laden macrophages in tonsils, thymus, lymph nodes, and colon, and moderate numbers in pyelonephritic scars and ureter. As the storage cells may be scanty in marrow, jejunum, and liver, the rectum is suggested as the site of choice for biopsy.<\/jats:p>\n                  <jats:p>The diagnosis was confirmed by demonstrating the absence of \u03b1-lipoproteins from the plasma of the living child, and by finding low plasma levels in both parents of both cases. The disease can be distinguished from other lipidoses by differences in the predominant sites of storage, staining reactions, and serum lipid studies.<\/jats:p>","DOI":"10.1136\/jcp.24.7.609","type":"journal-article","created":{"date-parts":[[2007,6,9]],"date-time":"2007-06-09T00:50:46Z","timestamp":1181350246000},"page":"609-616","source":"Crossref","is-referenced-by-count":48,"title":["Pathology of Tangier disease"],"prefix":"10.1136","volume":"24","author":[{"given":"Patricia M.","family":"Bale","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Clifton-Bligh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. N. P.","family":"Benjamin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. M.","family":"Whyte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1971,10,1]]},"reference":[{"key":"ref_1","first-page":"300","article-title":"An Atlas of Otolaryngic Pathology","author":"Ash, J.E.; Raum, Muriel","year":"1956","unstructured":"Ash, J. E., and Raum, Muriel (1956). An Atlas of Otolaryngic Pathology, p. 300. American Registry of Pathology."},{"key":"ref_2","first-page":"1169","article-title":"Adenites avec surcharge lipidique, de l'enfant on de l'adulte jeune, observ6es aux Antilles et au Mali (Quatre observations)","volume":"58","author":"Destombes, P.","year":"1965","unstructured":"Destombes, P. (1965). Adenites avec surcharge lipidique, de l'enfant on de l'adulte jeune, observ6es aux Antilles et au Mali (Quatre observations). Bull. Soc. Path. exot., 58, 1169-1175.","journal-title":"Bull. Soc. Path. exot"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1001\/archneur.1967.00470250005001","article-title":"Neuropathy in Tangier disease. a-lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage","volume":"17","author":"Engel, W.K.; Dorman, J.D.; Levy, R.I.; Fredrickson, D.S.","year":"1967","unstructured":"Engel, W. K., Dorman, J. D., Levy, R. I., and Fredrickson, D. S. (1967). Neuropathy in Tangier disease. a-lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage. Arch. Neurol. (Chic.), 17, 1-9.","journal-title":"Arch. Neurol. (Chic.)"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1172\/JCI104907","article-title":"The inheritance of high density lipoprotein deficiency (Tangier disease)","volume":"43","author":"Frederickson, D.S.","year":"1964","unstructured":"Frederickson, D. S. (1964). The inheritance of high density lipoprotein deficiency (Tangier disease). J. clin. Invest., 43, 228-236.","journal-title":"J. clin. Invest"},{"key":"ref_5","first-page":"486","article-title":"Familial high-density lipoprotein deficiency. Tangier disease","volume-title":"The Metabolic Basis of Inherited Disease","author":"Frederickson, D.S.","year":"1966","unstructured":"Frederickson, D. S. (1966). Familial high-density lipoprotein deficiency. Tangier disease. In The Metabolic Basis of Inherited Disease, edited by J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, 2nd ed. pp. 486-508. McGraw-Hill New York.","edition":"2nd ed"},{"key":"ref_6","first-page":"343","article-title":"Tangier disease (familial cholesterolosis with high","volume-title":"density lipoprotein deficiency) In Cerebral Sphingolipidoses. A Symposium on Tay Sachs' Disease and Allied Disorders","author":"Fredrickson, D.S.; Altrocchi, P.H.","year":"1962","unstructured":"Fredrickson, D. S., and Altrocchi, P. H. (1962). Tangier disease (familial cholesterolosis with high density lipoprotein deficiency) In Cerebral Sphingolipidoses. A Symposium on Tay Sachs' Disease and Allied Disorders, pp. 343-357, edited by S. M. Aronson and B. W. Volk. Academic Press, New York and London."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.7326\/0003-4819-55-6-1016","volume":"55","author":"Fredrickson, D.S.; Altrocchi, P.H.; Avioli, L.V.; Goodman, De W.S.; Goodman, H.C.","year":"1961","unstructured":"Fredrickson, D. S., Altrocchi, P. H., Avioli, L. V., Goodman, De W. S., and Goodman, H. C. (1961). Tangier disease. Ann. intern. Med., 55, 1016-1031.","journal-title":"Tangier disease. Ann. intern. 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Invest"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1111\/j.0954-6820.1968.tb10449.x","article-title":"Familial serum cholesterol ester deficiency. Clinical study of a patient with a new syndrome","volume":"183","author":"Gjone, E.; Norum, K.R.","year":"1968","unstructured":"Gjone, E., and Norum, K. R. (1968). Familial serum cholesterol ester deficiency. Clinical study of a patient with a new syndrome Acta med. scand., 183, 107-112.","journal-title":"Acta med. scand"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1016\/0002-9343(65)90081-1","article-title":"Tangier disease (Familial high density lipoprotein deficiency). Clinical and genetic features in two adults","volume":"39","author":"Hoffman, H. N. II; Fredrickson, D. S","year":"1965","unstructured":"Hoffman, H. N. II, and Fredrickson, D. S. (1965). Tangier disease (Familial high density lipoprotein deficiency). Clinical and genetic features in two adults. Amer. J. Med., 39, 582-593.","journal-title":"Amer. J. Med"},{"key":"ref_12","first-page":"117","article-title":"Chronic reticuloendothelial cell storage disease","volume":"110","author":"Holland, P.; Hug, G.; Schubert, W.K.","year":"1965","unstructured":"Holland, P., Hug, G., and Schubert, W. K. (1965). Chronic reticuloendothelial cell storage disease. Amer. J. Dis. Child., 110, 117-124.","journal-title":"Amer. J. Dis. Child"},{"key":"ref_13","first-page":"1341","article-title":"Familial a-lipoprotein deficiency (Tangier disease) with neurological abnormalities","volume":"1","author":"Kocen, R.S.; Lloyd, June K.; Lascelles, P.T.; Fosbrooke, Audrey S.; Williams, D.","year":"1967","unstructured":"Kocen, R. S., Lloyd, June K., Lascelles, P. T., Fosbrooke, Audrey S., and Williams, D. (1967). Familial a-lipoprotein deficiency (Tangier disease) with neurological abnormalities. 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E., and Chadwick, D. L. (1964). Familial neurovisceral lipidosis. An analysis of eight cases of a syndrome previously reported as 'Hurler-Variant', 'Pseudo-Hurler Disease', and 'Tay-Sachs Disease with Visceral Involvement'. Amer. J. Dis. Child., 108, 503-522.","journal-title":"Amer. J. Dis. Child"},{"key":"ref_16","article-title":"Lipoprotein deficiency disorders","volume-title":"Bristol med.-","author":"Lloyd, June K.","year":"1969","unstructured":"Lloyd, June K. (1969). Lipoprotein deficiency disorders. Bristol med.-"},{"issue":"103-1","key":"ref_17","first-page":"10","article-title":"Wolman's disease. An electron microscopic, histochemical and biochemical study","volume":"89","author":"Lough, J.; Fawcett, J.; Wiegensberg, B.","year":"1970","unstructured":"Lough, J., Fawcett, J., and Wiegensberg, B. (1970). Wolman's disease. An electron microscopic, histochemical and biochemical study. Arch. Path., 89, 103-1 10.","journal-title":"Arch. Path"},{"key":"ref_18","first-page":"2689","article-title":"Ad6nopathies chroniques avec proliferation r6ticulo-histiocytaire et surcharge lipidique","volume":"13","author":"Marie, J.; Bernard, J.; Nezelof, C.; Leveque, B.; Schaison, G.; Desbois, J.-C.; Watchi, J.M.; Lemaigre-Voreaux, J.","year":"1966","unstructured":"Marie, J., Bernard, J., Nezelof, C., Leveque, B., Schaison, G., Desbois, J.-C., Watchi, J. M., and Lemaigre-Voreaux, J. (1966). Ad6nopathies chroniques avec proliferation r6ticulo-histiocytaire et surcharge lipidique. Ann. Pediat., 13, 2689-2697.","journal-title":"Ann. Pediat"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1016\/S0016-5085(19)33850-8","article-title":"Small intestinal mucosa in cholesterol ester storage disease","volume":"57","author":"Partin, J.C.; Schubert, W.K.","year":"1969","unstructured":"Partin, J. C., and Schubert, W. K. (1969). Small intestinal mucosa in cholesterol ester storage disease. Gastroenterology, 57, 542-558.","journal-title":"Gastroenterology"},{"key":"ref_20","first-page":"63","article-title":"Sinus histiocytosis with massive lymphadenopathy. A newly recognised benign clinicopathological entity","volume":"87","author":"Rosai, J.; Dorfman, R.F.","year":"1969","unstructured":"Rosai, J., and Dorfman, R. F. (1969). Sinus histiocytosis with massive lymphadenopathy. A newly recognised benign clinicopathological entity. Arch. Path., 87, 63-70.","journal-title":"Arch. Path"},{"key":"ref_21","article-title":"Hepatic cholesterol ester storage disease: a familial disorder","author":"Schiff, L.; Schubert, W.K.; McAdams, A.J.; Spiegel, E.L.; O'Donnell, J.F.","year":"1968","unstructured":"Schiff, L., Schubert, W. K., McAdams, A. J., Spiegel, E. L., and O'Donnell, J. F. (1968). Hepatic cholesterol ester storage disease: a familial disorder."},{"key":"ref_22","first-page":"\"538","article-title":"Cellules de la maladie de Niemann-Pick et de quelques autres lipoldoses","volume":"44","author":"aspects. Amer. J, Clinical","year":"1963","unstructured":"Clinical aspects. Amer. J. Med., 44, 538-546. Tanaka, Y., Brecher, G., et Frederickson, D. S. (1963). Cellules de la maladie de Niemann-Pick et de quelques autres lipoldoses. Nouv. Rev. franc. Hemat., 3, 5-16.","journal-title":"Med"},{"key":"ref_23","first-page":"742","article-title":"Primary familial xanthomatosis with involvement and calcification of the adrenals","volume":"28","author":"Wolman, M.; Sterk, V.V.; Gatt, S.; Frenkel, M.","year":"1961","unstructured":"Wolman, M., Sterk, V. V., Gatt,S., and Frenkel, M. (1961). Primary familial xanthomatosis with involvement and calcification of the adrenals. Pediatrics, 28, 742-757.","journal-title":"Pediatrics"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1093\/ajcp\/53.5.580","article-title":"Macrophages of the rectal lamina propria in children","volume":"53","author":"Yunis, E.; Sherman, F.E.","year":"1970","unstructured":"Yunis, E., and Sherman, F. E. (1970). Macrophages of the rectal lamina propria in children. Amer. J. clin. Path., 53, 580-591.","journal-title":"Amer. J. clin. Path"},{"key":"ref_25","article-title":"Since this paper was submitted, a further case has been reported by","volume-title":"in a 3-year-old girl with enlarged yellow tonsils","author":"Huth, Kracht; Schoenborn; Fuhrmann","year":"1970","unstructured":"Since this paper was submitted, a further case has been reported by Huth, Kracht, Schoenborn, and Fuhrmann (1970) in a 3-year-old girl with enlarged yellow tonsils."},{"key":"ref_26","first-page":"2357","volume":"95","author":"Huth, K.Kracht; J., Schoenborn; W.; Fuhrmann, W.","year":"1970","unstructured":"Huth, K.. Kracht, J., Schoenborn, W., and Fuhrmann, W. (1970). Tangier-Krankheit (Hyp-a-Lipcproteinamie). Dtsch. nied. Wschr., 95, 2357-2361.","journal-title":"Tangier-Krankheit (Hyp-a-Lipcproteinamie). Dtsch. nied. Wschr"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jcp.24.7.609","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T18:01:54Z","timestamp":1763748114000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jcp.24.7.609"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1971,10]]},"references-count":26,"journal-issue":{"issue":"7","published-online":{"date-parts":[[1971,10,1]]},"published-print":{"date-parts":[[1971,10]]}},"alternative-id":["10.1136\/jcp.24.7.609"],"URL":"https:\/\/doi.org\/10.1136\/jcp.24.7.609","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"type":"print","value":"0021-9746"},{"type":"electronic","value":"1472-4146"}],"subject":[],"published":{"date-parts":[[1971,10]]}}}