{"id":"https://openalex.org/W2018444067","doi":"https://doi.org/10.1006/cimm.1993.1299","title":"Severe Combined Immunodeficiency of Reduced Severity Due to Homozygosity for an Adenosine Deaminase Missense Mutation (ARG253PRO)","display_name":"Severe Combined Immunodeficiency of Reduced Severity Due to Homozygosity for an Adenosine Deaminase Missense Mutation (ARG253PRO)","publication_year":1993,"publication_date":"1993-12-01","ids":{"openalex":"https://openalex.org/W2018444067","doi":"https://doi.org/10.1006/cimm.1993.1299","mag":"2018444067","pmid":"https://pubmed.ncbi.nlm.nih.gov/8258146"},"language":"en","primary_location":{"id":"doi:10.1006/cimm.1993.1299","doi":"https://doi.org/10.1006/cimm.1993.1299","is_oa":true,"landing_page_url":"https://doi.org/10.1006/cimm.1993.1299","pdf_url":null,"source":{"id":"https://openalex.org/S193466101","display_name":"Cellular Immunology","issn_l":"0008-8749","issn":["0008-8749","1090-2163"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cellular Immunology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1006/cimm.1993.1299","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5113695897","display_name":"Rochelle Hirschhorn","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I4210086933","display_name":"NYU Langone Health","ror":"https://ror.org/005dvqh91","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210086933"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]},{"id":"https://openalex.org/I57206974","display_name":"New York University","ror":"https://ror.org/0190ak572","country_code":"US","type":"education","lineage":["https://openalex.org/I57206974"]},{"id":"https://openalex.org/I63190737","display_name":"University at Buffalo, State University of New York","ror":"https://ror.org/01y64my43","country_code":"US","type":"education","lineage":["https://openalex.org/I63190737"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rochelle Hirschhorn","raw_affiliation_strings":["Division of Medical Genetics, New York University Medical Center, New York 10016","Allergy/Immunology Division, Children's Hospital, State University of New York at Buffalo, School of Medicine, 219 Bryant Street, Buffalo, New York 14222","Department of Pediatrics, University of Rochester School of Medicine, 601 Elmwood Avenue, Box 777, Rochester, New York 14642","Division of Medical Genetics of the Department of Medicine, New York University Medical Center, 550 First Avenue, New York, New York 10016"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, New York University Medical Center, New York 10016","institution_ids":["https://openalex.org/I4210086933","https://openalex.org/I57206974"]},{"raw_affiliation_string":"Allergy/Immunology Division, Children's Hospital, State University of New York at Buffalo, School of Medicine, 219 Bryant Street, Buffalo, New York 14222","institution_ids":["https://openalex.org/I63190737"]},{"raw_affiliation_string":"Department of Pediatrics, University of Rochester School of Medicine, 601 Elmwood Avenue, Box 777, Rochester, New York 14642","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"raw_affiliation_string":"Division of Medical Genetics of the Department of Medicine, New York University Medical Center, 550 First Avenue, New York, New York 10016","institution_ids":["https://openalex.org/I4210086933","https://openalex.org/I57206974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113576640","display_name":"Diana Ruixi Yang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I4210086933","display_name":"NYU Langone Health","ror":"https://ror.org/005dvqh91","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210086933"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]},{"id":"https://openalex.org/I57206974","display_name":"New York University","ror":"https://ror.org/0190ak572","country_code":"US","type":"education","lineage":["https://openalex.org/I57206974"]},{"id":"https://openalex.org/I63190737","display_name":"University at Buffalo, State University of New York","ror":"https://ror.org/01y64my43","country_code":"US","type":"education","lineage":["https://openalex.org/I63190737"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Diana Ruixi Yang","raw_affiliation_strings":["Division of Medical Genetics of the Department of Medicine, New York University Medical Center, 550 First Avenue, New York, New York 10016; Department of Pediatrics, University of Rochester School of Medicine, 601 Elmwood Avenue, Box 777, Rochester, New York 14642; and Allergy/Immunology Division, Children's Hospital, State University of New York at Buffalo, School of Medicine, 219 Bryant Street, Buffalo, New York 14222","Allergy/Immunology Division, Children's Hospital, State University of New York at Buffalo, School of Medicine, 219 Bryant Street, Buffalo, New York 14222","Department of Pediatrics, University of Rochester School of Medicine, 601 Elmwood Avenue, Box 777, Rochester, New York 14642","Division of Medical Genetics of the Department of Medicine, New York University Medical Center, 550 First Avenue, New York, New York 10016"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics of the Department of Medicine, New York University Medical Center, 550 First Avenue, New York, New York 10016; Department of Pediatrics, University of Rochester School of Medicine, 601 Elmwood Avenue, Box 777, Rochester, New York 14642; and Allergy/Immunology Division, Children's Hospital, State University of New York at Buffalo, School of Medicine, 219 Bryant Street, Buffalo, New York 14222","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I4210086933","https://openalex.org/I5388228","https://openalex.org/I57206974","https://openalex.org/I63190737"]},{"raw_affiliation_string":"Allergy/Immunology Division, Children's Hospital, State University of New York at Buffalo, School of Medicine, 219 Bryant Street, Buffalo, New York 14222","institution_ids":["https://openalex.org/I63190737"]},{"raw_affiliation_string":"Department of Pediatrics, University of Rochester School of Medicine, 601 Elmwood Avenue, Box 777, Rochester, New York 14642","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"raw_affiliation_string":"Division of Medical Genetics of the Department of Medicine, New York University Medical Center, 550 First Avenue, New York, New York 10016","institution_ids":["https://openalex.org/I4210086933","https://openalex.org/I57206974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015059240","display_name":"Richard A. Insel","orcid":"https://orcid.org/0000-0003-0100-9077","observed_orcids":["https://orcid.org/0000-0003-0100-9077"]},"institutions":[{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I4210086933","display_name":"NYU Langone Health","ror":"https://ror.org/005dvqh91","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210086933"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]},{"id":"https://openalex.org/I57206974","display_name":"New York University","ror":"https://ror.org/0190ak572","country_code":"US","type":"education","lineage":["https://openalex.org/I57206974"]},{"id":"https://openalex.org/I63190737","display_name":"University at Buffalo, State University of New York","ror":"https://ror.org/01y64my43","country_code":"US","type":"education","lineage":["https://openalex.org/I63190737"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard A. Insel","raw_affiliation_strings":["Division of Medical Genetics of the Department of Medicine, New York University Medical Center, 550 First Avenue, New York, New York 10016; Department of Pediatrics, University of Rochester School of Medicine, 601 Elmwood Avenue, Box 777, Rochester, New York 14642; and Allergy/Immunology Division, Children's Hospital, State University of New York at Buffalo, School of Medicine, 219 Bryant Street, Buffalo, New York 14222","Allergy/Immunology Division, Children's Hospital, State University of New York at Buffalo, School of Medicine, 219 Bryant Street, Buffalo, New York 14222","Department of Pediatrics, University of Rochester School of Medicine, 601 Elmwood Avenue, Box 777, Rochester, New York 14642","Division of Medical Genetics of the Department of Medicine, New York University Medical Center, 550 First Avenue, New York, New York 10016"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics of the Department of Medicine, New York University Medical Center, 550 First Avenue, New York, New York 10016; Department of Pediatrics, University of Rochester School of Medicine, 601 Elmwood Avenue, Box 777, Rochester, New York 14642; and Allergy/Immunology Division, Children's Hospital, State University of New York at Buffalo, School of Medicine, 219 Bryant Street, Buffalo, New York 14222","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I4210086933","https://openalex.org/I5388228","https://openalex.org/I57206974","https://openalex.org/I63190737"]},{"raw_affiliation_string":"Allergy/Immunology Division, Children's Hospital, State University of New York at Buffalo, School of Medicine, 219 Bryant Street, Buffalo, New York 14222","institution_ids":["https://openalex.org/I63190737"]},{"raw_affiliation_string":"Department of Pediatrics, University of Rochester School of Medicine, 601 Elmwood Avenue, Box 777, Rochester, New York 14642","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"raw_affiliation_string":"Division of Medical Genetics of the Department of Medicine, New York University Medical Center, 550 First Avenue, New York, New York 10016","institution_ids":["https://openalex.org/I4210086933","https://openalex.org/I57206974"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5037734477","display_name":"Mark C. Ballow","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I4210086933","display_name":"NYU Langone Health","ror":"https://ror.org/005dvqh91","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210086933"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]},{"id":"https://openalex.org/I57206974","display_name":"New York University","ror":"https://ror.org/0190ak572","country_code":"US","type":"education","lineage":["https://openalex.org/I57206974"]},{"id":"https://openalex.org/I63190737","display_name":"University at Buffalo, State University of New York","ror":"https://ror.org/01y64my43","country_code":"US","type":"education","lineage":["https://openalex.org/I63190737"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mark Ballow","raw_affiliation_strings":["Division of Medical Genetics of the Department of Medicine, New York University Medical Center, 550 First Avenue, New York, New York 10016; Department of Pediatrics, University of Rochester School of Medicine, 601 Elmwood Avenue, Box 777, Rochester, New York 14642; and Allergy/Immunology Division, Children's Hospital, State University of New York at Buffalo, School of Medicine, 219 Bryant Street, Buffalo, New York 14222","Allergy/Immunology Division, Children's Hospital, State University of New York at Buffalo, School of Medicine, 219 Bryant Street, Buffalo, New York 14222","Department of Pediatrics, University of Rochester School of Medicine, 601 Elmwood Avenue, Box 777, Rochester, New York 14642","Division of Medical Genetics of the Department of Medicine, New York University Medical Center, 550 First Avenue, New York, New York 10016"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics of the Department of Medicine, New York University Medical Center, 550 First Avenue, New York, New York 10016; Department of Pediatrics, University of Rochester School of Medicine, 601 Elmwood Avenue, Box 777, Rochester, New York 14642; and Allergy/Immunology Division, Children's Hospital, State University of New York at Buffalo, School of Medicine, 219 Bryant Street, Buffalo, New York 14222","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I4210086933","https://openalex.org/I5388228","https://openalex.org/I57206974","https://openalex.org/I63190737"]},{"raw_affiliation_string":"Allergy/Immunology Division, Children's Hospital, State University of New York at Buffalo, School of Medicine, 219 Bryant Street, Buffalo, New York 14222","institution_ids":["https://openalex.org/I63190737"]},{"raw_affiliation_string":"Department of Pediatrics, University of Rochester School of Medicine, 601 Elmwood Avenue, Box 777, Rochester, New York 14642","institution_ids":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"raw_affiliation_string":"Division of Medical Genetics of the Department of Medicine, New York University Medical Center, 550 First Avenue, New York, New York 10016","institution_ids":["https://openalex.org/I4210086933","https://openalex.org/I57206974"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3550,"currency":"USD","value_usd":3550},"apc_paid":{"value":3550,"currency":"USD","value_usd":3550},"fwci":0.6434,"has_fulltext":false,"cited_by_count":16,"citation_normalized_percentile":{"value":0.64163177,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":"152","issue":"2","first_page":"383","last_page":"393"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12827","display_name":"Biochemical and Molecular Research","score":0.5512999892234802,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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"}},"topics":[{"id":"https://openalex.org/T12827","display_name":"Biochemical and Molecular Research","score":0.5512999892234802,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.4372999966144562,"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":0.00279999990016222,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/severe-combined-immunodeficiency","display_name":"severe combined immunodeficiency","score":0.8960000276565552},{"id":"https://openalex.org/keywords/adenosine-deaminase-deficiency","display_name":"adenosine deaminase deficiency","score":0.9769999980926514},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8379999995231628},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.8330000042915344},{"id":"https://openalex.org/keywords/homozygous-mutation","display_name":"homozygous mutation","score":0.7710000276565552},{"id":"https://openalex.org/keywords/residual-enzyme-activity","display_name":"residual enzyme activity","score":0.8769999742507935},{"id":"https://openalex.org/keywords/gene-replacement-therapy","display_name":"gene replacement therapy","score":0.7210000157356262},{"id":"https://openalex.org/keywords/eosinophilia","display_name":"eosinophilia","score":0.6150000095367432},{"id":"https://openalex.org/keywords/bacterial-infection","display_name":"bacterial infection","score":0.8799999952316284}],"concepts":[{"id":"https://openalex.org/C34628245","wikidata":"https://www.wikidata.org/wiki/Q356093","display_name":"Adenosine deaminase","level":3,"score":0.7056540846824646},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6965659856796265},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.660401463508606},{"id":"https://openalex.org/C2779468541","wikidata":"https://www.wikidata.org/wiki/Q1334408","display_name":"Severe combined immunodeficiency","level":3,"score":0.6467260718345642},{"id":"https://openalex.org/C64872895","wikidata":"https://www.wikidata.org/wiki/Q1361360","display_name":"Transversion","level":4,"score":0.614811897277832},{"id":"https://openalex.org/C2777607303","wikidata":"https://www.wikidata.org/wiki/Q641307","display_name":"Immunodeficiency","level":3,"score":0.5268638730049133},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.519381582736969},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.5085781812667847},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.45422011613845825},{"id":"https://openalex.org/C187882448","wikidata":"https://www.wikidata.org/wiki/Q283478","display_name":"Complementary DNA","level":3,"score":0.4106413424015045},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.2893236577510834},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.28843146562576294},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.2876662015914917},{"id":"https://openalex.org/C2776991684","wikidata":"https://www.wikidata.org/wiki/Q190012","display_name":"Adenosine","level":2,"score":0.2830531597137451},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.14376088976860046},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000243","descriptor_name":"Adenosine Deaminase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D000243","descriptor_name":"Adenosine Deaminase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003062","descriptor_name":"Codon","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D007223","descriptor_name":"Infant","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":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012720","descriptor_name":"Severity of Illness Index","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016511","descriptor_name":"Severe Combined Immunodeficiency","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D016511","descriptor_name":"Severe Combined Immunodeficiency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1006/cimm.1993.1299","doi":"https://doi.org/10.1006/cimm.1993.1299","is_oa":true,"landing_page_url":"https://doi.org/10.1006/cimm.1993.1299","pdf_url":null,"source":{"id":"https://openalex.org/S193466101","display_name":"Cellular Immunology","issn_l":"0008-8749","issn":["0008-8749","1090-2163"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cellular Immunology","raw_type":"journal-article"},{"id":"pmid:8258146","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8258146","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":"Cellular immunology","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1006/cimm.1993.1299","doi":"https://doi.org/10.1006/cimm.1993.1299","is_oa":true,"landing_page_url":"https://doi.org/10.1006/cimm.1993.1299","pdf_url":null,"source":{"id":"https://openalex.org/S193466101","display_name":"Cellular Immunology","issn_l":"0008-8749","issn":["0008-8749","1090-2163"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cellular Immunology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9763000011444092}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[{"id":"https://openalex.org/G1302783264","display_name":null,"funder_award_id":"AI-10343","funder_id":"https://openalex.org/F4320337355","funder_display_name":"National Institute of Allergy and Infectious Diseases"}],"funders":[{"id":"https://openalex.org/F4320337355","display_name":"National Institute of Allergy and Infectious Diseases","ror":"https://ror.org/043z4tv69"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1490779778","https://openalex.org/W343095198","https://openalex.org/W1577028136","https://openalex.org/W2005001456","https://openalex.org/W1899649118","https://openalex.org/W2119896650","https://openalex.org/W2619579642","https://openalex.org/W33834747","https://openalex.org/W2149013137","https://openalex.org/W3184719665"],"abstract_inverted_index":{"Genetic":[0],"deficiency":[1],"of":[2,10,31,43,53,59,66,80,98,114,120,138,147,172,178,194,203,212,223,248,266,280,283],"adenosine":[3],"deaminase":[4],"(ADA)":[5],"results":[6],"in":[7,33,90,103,129,181,258,273],"varying":[8],"degrees":[9],"immunodeficiency,":[11],"including":[12],"neonatal":[13,69,232],"onset":[14,23,70,233],"severe":[15],"combined":[16],"immunodeficiency":[17],"(ADA-":[18],"SCID)":[19],"and":[20,45,55,83,118,159,215,278,285],"milder,":[21],"later":[22],"immunodeficiency.":[24],"We":[25],"have":[26],"determined":[27],"the":[28,67,109,115,121,160,165,209,216,256,275],"molecular":[29],"basis":[30],"disease":[32],"a":[34,37,141,145,224],"child":[35,161],"from":[36],"consanguineous":[38],"mating":[39],"with":[40,108,133,192,201,231],"ADA-":[41,92,130],"SCID":[42,131],"clinically":[44],"biochemically":[46],"reduced":[47],"severity,":[48],"diagnosed":[49],"at":[50,151],"15":[51],"months":[52],"age":[54],"characterized":[56],"by":[57,169,207],"retention":[58],"more":[60,188],"immunologic":[61],"function":[62],"than":[63,127],"is":[64],"typical":[65],"fulminant":[68,134],"type.":[71],"The":[72,155],"course":[73],"was":[74,162],"notable":[75],"for":[76,149,164,254,277],"an":[77,185],"early":[78],"predominance":[79],"bacterial":[81],"infections":[82],"eosinophilia.":[84],"In":[85],"contrast":[86],"to":[87],"its":[88],"absence":[89],"most":[91],"SCIDs,":[93],"residual":[94,111,246],"ADA":[95,191,238],"activity":[96,247],"(1-2%":[97],"normal)":[99],"could":[100],"be":[101,252,271],"detected":[102],"EBV-transformed":[104],"B":[105],"cells.":[106],"Consistent":[107],"increased":[110],"ADA,":[112,250],"excretion":[113],"substrate":[116],"deoxyadenosine":[117],"accumulation":[119,211],"toxic":[122,213],"metabolite":[123],"deoxyATP":[124],"were":[125,157],"less":[126],"seen":[128],"patients":[132,259],"disease.":[135],"Sequence":[136],"analysis":[137,171],"cDNA":[139,180],"revealed":[140,184],"G853C":[142],"transversion,":[143],"predicting":[144],"substitution":[146],"proline":[148],"arginine":[150,206],"codon":[152],"253":[153],"(Arg253Pro).":[154],"parents":[156],"heterozygous":[158],"homozygous":[163],"mutation,":[166],"as":[167,242],"shown":[168],"sequence":[170],"amplified":[173],"genomic":[174],"DNA.":[175],"Transient":[176],"expression":[177,222],"mutant":[179,226],"Cos":[182],"cells":[183],"electrophoretically":[186],"abnormal,":[187],"negatively":[189],"charged":[190,205],"1-2%":[193],"normal":[195],"activity.":[196,239],"These":[197],"observations":[198],"are":[199],"consistent":[200],"replacement":[202],"positively":[204],"proline,":[208],"lower":[210],"metabolites,":[214],"milder":[217],"phenotype.":[218],"By":[219],"contrast,":[220],"transient":[221],"Gly216Arg":[225],"cDNA,":[227],"associated,":[228],"when":[229],"homozygous,":[230],"ADA-SCID,":[234],"did":[235],"not":[236],"reveal":[237],"Mutations":[240],"such":[241],"Arg253Pro,":[243],"which":[244],"retain":[245],"monomeric":[249],"should":[251],"dominant":[253],"ameliorating":[255],"phenotype":[257],"carrying":[260],"two":[261],"different":[262],"allelic":[263],"mutations.":[264],"Identification":[265],"additional":[267],"similar":[268],"mutations":[269],"may":[270],"significant":[272],"evaluating":[274],"goals":[276],"efficacy":[279],"current":[281],"trials":[282],"gene":[284,286],"product":[287],"replacement.":[288]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
