{"id":"https://openalex.org/W4300858342","doi":"https://doi.org/10.1016/s0033-8389(22)00181-6","title":"JAK3-DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY","display_name":"JAK3-DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY","publication_year":2000,"publication_date":"2000-02-01","ids":{"openalex":"https://openalex.org/W4300858342","doi":"https://doi.org/10.1016/s0033-8389(22)00181-6"},"language":"en","primary_location":{"id":"doi:10.1016/s0033-8389(22)00181-6","doi":"https://doi.org/10.1016/s0033-8389(22)00181-6","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0033-8389(22)00181-6","pdf_url":null,"source":{"id":"https://openalex.org/S183459243","display_name":"Radiologic Clinics of North America","issn_l":"0033-8389","issn":["0033-8389","1557-8275"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-1","medline","norway-1","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Radiologic Clinics of North America","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"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/A5029163913","display_name":"Luigi Daniele Notarangelo","orcid":"https://orcid.org/0000-0002-8335-0262","observed_orcids":["https://orcid.org/0000-0002-8335-0262"]},"institutions":[{"id":"https://openalex.org/I79940851","display_name":"University of Brescia","ror":"https://ror.org/02q2d2610","country_code":"IT","type":"education","lineage":["https://openalex.org/I79940851"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Luigi D. Notarangelo","raw_affiliation_strings":["Istituto di Medicina Molecolare \u201cAngelo Nocivelli,\u201d Department of Pediatrics, University of Brescia, Brescia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Medicina Molecolare \u201cAngelo Nocivelli,\u201d Department of Pediatrics, University of Brescia, Brescia, Italy","institution_ids":["https://openalex.org/I79940851"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5062385004","display_name":"Fabio Candotti","orcid":"https://orcid.org/0000-0001-6399-6042","observed_orcids":["https://orcid.org/0000-0001-6399-6042"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Fabio Candotti","raw_affiliation_strings":["Clinical Gene Therapy Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland (FC)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Gene Therapy Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland (FC)","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5029163913"],"corresponding_institution_ids":["https://openalex.org/I79940851"],"apc_list":{"value":3000,"currency":"USD","value_usd":3000},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.38339256,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"20","issue":"1","first_page":"97","last_page":"111"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9990000128746033,"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":0.9990000128746033,"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/T12919","display_name":"Blood disorders and treatments","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10031","display_name":"T-cell and B-cell Immunology","score":9.999999747378752e-05,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/jak3-deficiency","display_name":"JAK3 deficiency","score":0.9789999723434448},{"id":"https://openalex.org/keywords/severe-combined-immunodeficiency","display_name":"severe combined immunodeficiency","score":0.9890000224113464},{"id":"https://openalex.org/keywords/tyrosine-kinase","display_name":"tyrosine kinase","score":0.968999981880188},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.9860000014305115},{"id":"https://openalex.org/keywords/mutation-analysis","display_name":"mutation analysis","score":0.9210000038146973},{"id":"https://openalex.org/keywords/gene-therapy","display_name":"gene therapy","score":0.9330000281333923},{"id":"https://openalex.org/keywords/incidence","display_name":"incidence","score":0.5180000066757202}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8361823558807373},{"id":"https://openalex.org/C2779468541","wikidata":"https://www.wikidata.org/wiki/Q1334408","display_name":"Severe combined immunodeficiency","level":3,"score":0.7637211680412292},{"id":"https://openalex.org/C111599444","wikidata":"https://www.wikidata.org/wiki/Q213901","display_name":"Genetic enhancement","level":3,"score":0.6461870670318604},{"id":"https://openalex.org/C183315844","wikidata":"https://www.wikidata.org/wiki/Q6155969","display_name":"Janus kinase 3","level":5,"score":0.570999801158905},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.45017480850219727},{"id":"https://openalex.org/C2777607303","wikidata":"https://www.wikidata.org/wiki/Q641307","display_name":"Immunodeficiency","level":3,"score":0.4112066924571991},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3790232241153717},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.37687504291534424},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.3567269444465637},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.31896352767944336},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.20474505424499512},{"id":"https://openalex.org/C2776090121","wikidata":"https://www.wikidata.org/wiki/Q193529","display_name":"T cell","level":3,"score":0.1115100085735321},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.10116326808929443},{"id":"https://openalex.org/C67662055","wikidata":"https://www.wikidata.org/wiki/Q1047791","display_name":"Antigen-presenting cell","level":4,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/s0033-8389(22)00181-6","doi":"https://doi.org/10.1016/s0033-8389(22)00181-6","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0033-8389(22)00181-6","pdf_url":null,"source":{"id":"https://openalex.org/S183459243","display_name":"Radiologic Clinics of North America","issn_l":"0033-8389","issn":["0033-8389","1557-8275"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-1","medline","norway-1","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Radiologic Clinics of North America","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.6800000071525574}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":59,"referenced_works":["https://openalex.org/W23999710","https://openalex.org/W93069951","https://openalex.org/W193981811","https://openalex.org/W1505115118","https://openalex.org/W1577347004","https://openalex.org/W1595572144","https://openalex.org/W1932590521","https://openalex.org/W1964220962","https://openalex.org/W1972044265","https://openalex.org/W1979676829","https://openalex.org/W1984703212","https://openalex.org/W1991381808","https://openalex.org/W1994584656","https://openalex.org/W2000652317","https://openalex.org/W2005421795","https://openalex.org/W2009417025","https://openalex.org/W2012408584","https://openalex.org/W2014215007","https://openalex.org/W2018062961","https://openalex.org/W2021820438","https://openalex.org/W2024292299","https://openalex.org/W2030922722","https://openalex.org/W2033222990","https://openalex.org/W2038705787","https://openalex.org/W2040761112","https://openalex.org/W2054329375","https://openalex.org/W2055483105","https://openalex.org/W2062222238","https://openalex.org/W2067194336","https://openalex.org/W2075590385","https://openalex.org/W2078105135","https://openalex.org/W2082518041","https://openalex.org/W2083685529","https://openalex.org/W2093804554","https://openalex.org/W2094114663","https://openalex.org/W2116570389","https://openalex.org/W2121543473","https://openalex.org/W2131666890","https://openalex.org/W2132521688","https://openalex.org/W2134879802","https://openalex.org/W2140010294","https://openalex.org/W2149706484","https://openalex.org/W2155449991","https://openalex.org/W2163922871","https://openalex.org/W2169436688","https://openalex.org/W2170272569","https://openalex.org/W2219671181","https://openalex.org/W2227967487","https://openalex.org/W2263174759","https://openalex.org/W2289459565","https://openalex.org/W2293072912","https://openalex.org/W2330288813","https://openalex.org/W2418460269","https://openalex.org/W2471626689","https://openalex.org/W2917254169","https://openalex.org/W6601004260","https://openalex.org/W6603739282","https://openalex.org/W6607943104","https://openalex.org/W6633466677"],"related_works":["https://openalex.org/W7011736988","https://openalex.org/W7100100568","https://openalex.org/W2883107332","https://openalex.org/W2263174759","https://openalex.org/W4409786349","https://openalex.org/W1988881791","https://openalex.org/W2051930571","https://openalex.org/W2017452974","https://openalex.org/W2093804554","https://openalex.org/W2228352789"],"abstract_inverted_index":null,"counts_by_year":[{"year":2021,"cited_by_count":1}],"updated_date":"2026-09-22T06:50:58.402377","created_date":"2022-10-04T00:00:00"}