{"corpus_id":70597209,"paper_sha":"615538f0c0c78929042f844d6a0124b3d1034484","doi":"10.1542/peds.45.5.753","arxiv_id":null,"pmid":null,"pmcid":null,"mag_id":1547582426,"dblp_id":null,"acl_id":null,"title":"GENETIC DETERMINATION OF ACUTE DISSEMINATED HISTIOCYTOSIS X (LETTERER-SIWE SYNDROME)","year":1970,"publication_date":"1970-05-01","venue":"Pediatrics","journal":{"name":"Pediatrics","pages":null,"volume":null},"journal_issn":null,"journal_title":null,"publication_types":[],"pubmed_pub_types":null,"s2_fields_of_study":["Medicine"],"reference_count":0,"citation_count":22,"influential_citation_count":0,"is_open_access":false,"arxiv_categories":null,"arxiv_license":null,"arxiv_journal_ref":null,"mesh_headings":null,"chemicals":null,"comments_corrections":null,"source_flags":1,"s2_open_access_pdf_url":null,"s2_open_access_landing_url":null,"s2_open_access_license":null,"s2_open_access_status":null,"pmc_open_access_pdf_url":null,"pmc_open_access_landing_url":null,"pmc_open_access_license":null,"pmc_open_access_status":null,"unpaywall_open_access_pdf_url":null,"unpaywall_open_access_landing_url":null,"unpaywall_open_access_license":null,"unpaywall_open_access_status":null,"abstract":"Male twins first developed maculopapular eruption of the scalp at 9 months of age and then of other cutaneous areas during the next 3 months. They manifested otorrhea, anemia, and abdominal enlargement at 11 months. They had fever, massive hepatosplenomegaly, and moderate lymphadenopathy when admitted to the hospital at 12 months. There were histiocytes in the skin and bone marrow. The clinical impression of monozygosity was confirmed by several criteria.\n One twin died at 15 months with diarrhea, and the other twin died at 21 months after developing scattered osteolytic lesions and diabetes insipidus. Autopsy findings in both twins were characteristic of acute disseminated histiocytosis X with diffuse infiltration of nonlipidic histiocytes. An unusual finding was extensive liver involvement in both twins.\n Evidence for genetic determination of the disease consists of analysis of the literature reports in three categories. Twin studies show three of four pairs of monozygotic twins concordant for the trait. Sibship analysis of the familial occurrence by the a priori method with correction for multiple ascertainment is consistent with the genetic hypothesis. One consanguineous mating has been reported among the seven sibships of familial occurrence.\n We conclude that at least some instances of this disease result from a single, autosomal, recessive gene with slightly reduced penetrance.","claims":[{"public_id":"cl_cba6b70caee558a0af86a48452c560c6","status":"active","text":"At least some instances of acute disseminated histiocytosis X result from a single autosomal recessive gene with slightly reduced penetrance.","confidence":0.96,"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/claims/cl_cba6b70caee558a0af86a48452c560c6"},{"public_id":"cl_7a23674970377bb7d0e78f50204ca72d","status":"active","text":"Autopsy in both twins showed diffuse infiltration of nonlipidic histiocytes with extensive liver involvement characteristic of acute disseminated histiocytosis X.","confidence":0.93,"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/claims/cl_7a23674970377bb7d0e78f50204ca72d"},{"public_id":"cl_e9bce9def26f4bdff7d3c653e8c029f2","status":"active","text":"Literature evidence from twin studies, sibship analysis, and consanguinity reports supports a genetic basis for acute disseminated histiocytosis X.","confidence":0.97,"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/claims/cl_e9bce9def26f4bdff7d3c653e8c029f2"},{"public_id":"cl_4a00edcccf343fbcff8ff5d5c329c51e","status":"active","text":"The reported monozygotic twin pair showed concordance for the disease and developed severe multisystem involvement, including hepatosplenomegaly, lymphadenopathy, osteolytic lesions, diabetes insipidus, and fatal progression.","confidence":0.92,"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/claims/cl_4a00edcccf343fbcff8ff5d5c329c51e"}],"concepts":[{"public_id":"co_0e4e4dadb363d1f6ad12304679885b18","status":"active","name":"sibship analysis","description":"Analysis of disease occurrence within families or sibling groups to assess inheritance patterns.","types":["analysis method"],"aliases":[],"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/concepts/co_0e4e4dadb363d1f6ad12304679885b18"},{"public_id":"co_12c3462fb73d162e9f5653a2b3bbf90b","status":"active","name":"reduced penetrance","description":"A situation in which not all individuals carrying a disease-associated genotype express the phenotype.","types":["genetic property"],"aliases":[],"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/concepts/co_12c3462fb73d162e9f5653a2b3bbf90b"},{"public_id":"co_3d547cfc9f1be29f12f51491fae4a871","status":"active","name":"extensive liver involvement","description":"Marked infiltration or disease involvement of the liver observed in both twins.","types":["pathological finding"],"aliases":[],"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/concepts/co_3d547cfc9f1be29f12f51491fae4a871"},{"public_id":"co_41279d4a6337d09bf96b14d8734abd9e","status":"active","name":"nonlipidic histiocytes","description":"Histiocytes lacking lipid content, found diffusely infiltrating tissues in the autopsied twins.","types":["cell type"],"aliases":[],"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/concepts/co_41279d4a6337d09bf96b14d8734abd9e"},{"public_id":"co_57f2b76e557d4bc174993c95be58c96f","status":"active","name":"monozygotic twins","description":"Twins derived from a single fertilized egg, used here to assess concordance for the disease.","types":["subject group"],"aliases":["identical twins"],"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/concepts/co_57f2b76e557d4bc174993c95be58c96f"},{"public_id":"co_5e731c84fd83c663fd1047f306d61dcc","status":"active","name":"hepatosplenomegaly","description":"Enlargement of both the liver and spleen.","types":["clinical finding"],"aliases":[],"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/concepts/co_5e731c84fd83c663fd1047f306d61dcc"},{"public_id":"co_661c5f2afa8d61cdb3dba9ebac829eb3","status":"active","name":"single autosomal recessive gene","description":"A genetic model in which disease susceptibility is attributed to one recessive gene on an autosome.","types":["genetic model"],"aliases":[],"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/concepts/co_661c5f2afa8d61cdb3dba9ebac829eb3"},{"public_id":"co_8a38758cd9c3947657746f191fe123d2","status":"active","name":"autopsy findings","description":"Postmortem pathological observations made in the two twins.","types":["pathological observation"],"aliases":[],"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/concepts/co_8a38758cd9c3947657746f191fe123d2"},{"public_id":"co_95bb324977b8a9daaf675e337d661e45","status":"active","name":"acute disseminated histiocytosis X","description":"A severe disseminated form of histiocytosis X described in the report, also known as Letterer-Siwe syndrome.","types":["disease"],"aliases":["Letterer-Siwe syndrome"],"contributors":[{"id":1,"public_id":"12632b8b5f","public_label":"Anonymous (12632b8b5f)","roles":["extraction"],"url":"https://sah.borca.ai/u/12632b8b5f"}],"url":"https://sah.borca.ai/concepts/co_95bb324977b8a9daaf675e337d661e45"},{"public_id":"co_e01b28ee7ba07d4873a6eb7eb56f4a70","status":"active","name":"twin studies","description":"Comparisons of disease occurrence in twin pairs used to evaluate heritable contribution.","types":["study 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