{"id":"https://openalex.org/W2404640213","doi":"https://doi.org/10.1001/jama.1977.03280070031019","title":"Severe Combined Immunodeficiency Disease: Characterization of the Disease and Results of Transplantation","display_name":"Severe Combined Immunodeficiency Disease: Characterization of the Disease and Results of Transplantation","publication_year":1977,"publication_date":"1977-08-15","ids":{"openalex":"https://openalex.org/W2404640213","doi":"https://doi.org/10.1001/jama.1977.03280070031019","mag":"2404640213","pmid":"https://pubmed.ncbi.nlm.nih.gov/18618"},"language":"en","primary_location":{"id":"doi:10.1001/jama.1977.03280070031019","doi":"https://doi.org/10.1001/jama.1977.03280070031019","is_oa":false,"landing_page_url":"https://doi.org/10.1001/jama.1977.03280070031019","pdf_url":null,"source":{"id":"https://openalex.org/S172573765","display_name":"JAMA","issn_l":"0002-9955","issn":["0002-9955","0098-7484","1538-3598","2376-8118"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JAMA","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5111760469","display_name":"Mortimer M. Bortin","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Mortimer M. Bortin","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5111760469"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":5.4163,"has_fulltext":false,"cited_by_count":207,"citation_normalized_percentile":{"value":0.96541081,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"238","issue":"7","first_page":"591","last_page":"591"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.951200008392334,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.951200008392334,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10345","display_name":"Hematopoietic Stem Cell Transplantation","score":0.04129999876022339,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11189","display_name":"Transplantation: Methods and Outcomes","score":0.002899999963119626,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/severe-combined-immunodeficiency","display_name":"severe combined immunodeficiency","score":0.9890000224113464},{"id":"https://openalex.org/keywords/bone-marrow-transplantation","display_name":"bone marrow transplantation","score":0.921999990940094},{"id":"https://openalex.org/keywords/hla-matched-donor","display_name":"HLA-matched donor","score":0.6629999876022339},{"id":"https://openalex.org/keywords/fetal-tissue-transplantation","display_name":"fetal tissue transplantation","score":0.7699999809265137},{"id":"https://openalex.org/keywords/mixed-leukocyte-culture","display_name":"mixed leukocyte culture","score":0.8740000128746033},{"id":"https://openalex.org/keywords/graft-versus-host-disease","display_name":"graft-versus-host disease","score":0.9919999837875366},{"id":"https://openalex.org/keywords/survival","display_name":"survival","score":0.4090000092983246},{"id":"https://openalex.org/keywords/donor-age","display_name":"donor age","score":0.4580000042915344},{"id":"https://openalex.org/keywords/donor-sex","display_name":"donor sex","score":0.7360000014305115},{"id":"https://openalex.org/keywords/b-cell-function","display_name":"B cell function","score":0.7490000128746033},{"id":"https://openalex.org/keywords/t-lymphocyte-function","display_name":"T lymphocyte function","score":1.0}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9635439515113831},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6622231006622314},{"id":"https://openalex.org/C2911091166","wikidata":"https://www.wikidata.org/wiki/Q106419912","display_name":"Transplantation","level":2,"score":0.6220352053642273},{"id":"https://openalex.org/C2777607303","wikidata":"https://www.wikidata.org/wiki/Q641307","display_name":"Immunodeficiency","level":3,"score":0.4827527403831482},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.39762359857559204},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.292974054813385},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.15421518683433533},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.13854795694351196},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.048163145780563354}],"mesh":[{"descriptor_ui":"D000367","descriptor_name":"Age Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001402","descriptor_name":"B-Lymphocytes","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D001853","descriptor_name":"Bone Marrow","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D001854","descriptor_name":"Bone Marrow Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006087","descriptor_name":"Graft vs Host Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006680","descriptor_name":"HLA Antigens","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007136","descriptor_name":"Immunoglobulins","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D007153","descriptor_name":"Immunologic Deficiency Syndromes","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":true},{"descriptor_ui":"D007153","descriptor_name":"Immunologic Deficiency Syndromes","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007239","descriptor_name":"Infections","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D007959","descriptor_name":"Lymphocyte Culture Test, Mixed","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011379","descriptor_name":"Prognosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012008","descriptor_name":"Recurrence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012042","descriptor_name":"Registries","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012737","descriptor_name":"Sex Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013601","descriptor_name":"T-Lymphocytes","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D013997","descriptor_name":"Time Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014184","descriptor_name":"Transplantation, Homologous","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016026","descriptor_name":"Bone Marrow Transplantation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1001/jama.1977.03280070031019","doi":"https://doi.org/10.1001/jama.1977.03280070031019","is_oa":false,"landing_page_url":"https://doi.org/10.1001/jama.1977.03280070031019","pdf_url":null,"source":{"id":"https://openalex.org/S172573765","display_name":"JAMA","issn_l":"0002-9955","issn":["0002-9955","0098-7484","1538-3598","2376-8118"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JAMA","raw_type":"journal-article"},{"id":"doi:10.1001/jama.238.7.591","doi":"https://doi.org/10.1001/jama.238.7.591","is_oa":false,"landing_page_url":"https://doi.org/10.1001/jama.238.7.591","pdf_url":null,"source":{"id":"https://openalex.org/S172573765","display_name":"JAMA","issn_l":"0002-9955","issn":["0002-9955","0098-7484","1538-3598","2376-8118"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JAMA: The Journal of the American Medical Association","raw_type":"journal-article"},{"id":"pmid:18618","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18618","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JAMA","raw_type":"Journal Article"},{"id":"pmid:325756","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/325756","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Transplantation proceedings","raw_type":"Journal Article"},{"id":"mag:2053639598","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18618","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":9,"referenced_works":["https://openalex.org/W79869372","https://openalex.org/W1505927506","https://openalex.org/W1535206124","https://openalex.org/W1539800150","https://openalex.org/W1963604200","https://openalex.org/W1969990167","https://openalex.org/W1978341830","https://openalex.org/W2091830533","https://openalex.org/W2333288930"],"related_works":["https://openalex.org/W4296423950","https://openalex.org/W2122153475","https://openalex.org/W2886448111","https://openalex.org/W2330288813","https://openalex.org/W2078535012","https://openalex.org/W2144139718","https://openalex.org/W2004877946","https://openalex.org/W2013110503","https://openalex.org/W2423484742","https://openalex.org/W3166641614"],"abstract_inverted_index":{"Pretransplant":[0],"and":[1,16,28,94,120],"posttransplant":[2],"data":[3],"for":[4,52,78],"69":[5],"patients":[6,53,79],"with":[7,81],"severe":[8],"combined":[9],"immunodeficiency":[10],"disease":[11,112,122],"are":[12],"presented.":[13],"Both":[14],"B":[15],"T":[17],"lymphocyte":[18],"functions":[19],"were":[20,70,118],"absent":[21],"in":[22,31],"approximately":[23],"80%":[24],"of":[25,35,97,106],"the":[26,32,43,95,133],"children":[27],"markedly":[29],"depressed":[30],"remainder.":[33],"Transplantation":[34],"marrow":[36,61,82],"from":[37,62,83,129],"HLA":[38],"genotypically":[39],"identical":[40],"donors":[41,68,86,131],"provided":[42],"highest":[44],"six-month":[45,49],"survival":[46,50,93],"rate":[47],"(63%);":[48],"rates":[51,117],"who":[54],"received":[55,127],"fetal":[56],"tissue":[57],"transplants":[58,128],"(43%)":[59],"or":[60],"mixed":[63],"leukocyte":[64],"culture":[65],"(MLC)":[66],"negative":[67],"(38%)":[69],"significantly":[71],"higher":[72],"(P":[73],"less":[74],"than":[75,77,103,113,132],".05)":[76],"treated":[80],"MLC":[84],"positive":[85],"(5%).":[87],"Additional":[88],"factors":[89],"appeared":[90],"to":[91],"influence":[92],"severity":[96],"graft-vs-host":[98],"(GVH)":[99],"disease.":[100],"Patients":[101],"more":[102,109,123],"6":[104],"months":[105],"age":[107],"had":[108],"intense":[110,124],"GVH":[111,121],"younger":[114],"patients.":[115],"Survival":[116],"lower":[119],"when":[125],"boys":[126],"girl":[130],"reverse.":[134]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}