{"id":"https://openalex.org/W1590639281","doi":"https://doi.org/10.1016/j.jaci.2003.12.120","title":"Single mutation in the cystic fibrosis transmembrane regulatory gene in patients with chronic sinusitis and hypogammaglobulinemia*1A novel immunodeficiency","display_name":"Single mutation in the cystic fibrosis transmembrane regulatory gene in patients with chronic sinusitis and hypogammaglobulinemia*1A novel immunodeficiency","publication_year":2004,"publication_date":"2004-02-01","ids":{"openalex":"https://openalex.org/W1590639281","doi":"https://doi.org/10.1016/j.jaci.2003.12.120","mag":"1590639281"},"language":"en","primary_location":{"id":"doi:10.1016/j.jaci.2003.12.120","doi":"https://doi.org/10.1016/j.jaci.2003.12.120","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jaci.2003.12.120","pdf_url":null,"source":{"id":"https://openalex.org/S108525051","display_name":"Journal of Allergy and Clinical Immunology","issn_l":"0091-6749","issn":["0091-6749","1085-8725","1097-6825"],"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/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":"Journal of Allergy and Clinical Immunology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5101690197","display_name":"A. Smith","orcid":"https://orcid.org/0000-0003-4660-7863","observed_orcids":["https://orcid.org/0000-0003-4660-7863"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"A SMITH","raw_affiliation_strings":["1st Allergy and Asthma Clinical Research, Englewood, CO, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1st Allergy and Asthma Clinical Research, Englewood, CO, USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5101690197"],"corresponding_institution_ids":[],"apc_list":{"value":4900,"currency":"USD","value_usd":4900},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.08876255,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"113","issue":"2","first_page":"S44","last_page":"S44"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.6859999895095825,"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":0.6859999895095825,"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/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.31130000948905945,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T10984","display_name":"Sinusitis and nasal conditions","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/2733","display_name":"Otorhinolaryngology"},"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/cystic-fibrosis-transmembrane-conductance-regulator","display_name":"cystic fibrosis transmembrane conductance regulator","score":0.871999979019165},{"id":"https://openalex.org/keywords/cftr-mutations","display_name":"CFTR mutations","score":0.7630000114440918},{"id":"https://openalex.org/keywords/chronic-rhinosinusitis","display_name":"chronic rhinosinusitis","score":0.8920000195503235},{"id":"https://openalex.org/keywords/hypogammaglobulinemia","display_name":"hypogammaglobulinemia","score":0.9879999756813049},{"id":"https://openalex.org/keywords/immunoglobulin-deficiency","display_name":"antibody deficiency","score":0.9620000123977661},{"id":"https://openalex.org/keywords/f508del-mutation","display_name":"F508del mutation","score":0.7070000171661377},{"id":"https://openalex.org/keywords/w1282x","display_name":"W1282X","score":0.9760000109672546},{"id":"https://openalex.org/keywords/r117h","display_name":"R117H","score":0.996999979019165},{"id":"https://openalex.org/keywords/intravenous-immunoglobulin","display_name":"intravenous immunoglobulin","score":0.9350000023841858},{"id":"https://openalex.org/keywords/iga-deficiency","display_name":"IgA deficiency","score":0.7009999752044678},{"id":"https://openalex.org/keywords/igg3-deficiency","display_name":"IgG3 deficiency","score":0.7580000162124634}],"concepts":[{"id":"https://openalex.org/C2777607303","wikidata":"https://www.wikidata.org/wiki/Q641307","display_name":"Immunodeficiency","level":3,"score":0.7637600302696228},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7509641051292419},{"id":"https://openalex.org/C2777768476","wikidata":"https://www.wikidata.org/wiki/Q183344","display_name":"Sinusitis","level":2,"score":0.6747055649757385},{"id":"https://openalex.org/C2777805810","wikidata":"https://www.wikidata.org/wiki/Q1047559","display_name":"Hypogammaglobulinemia","level":3,"score":0.6649632453918457},{"id":"https://openalex.org/C2776938444","wikidata":"https://www.wikidata.org/wiki/Q178194","display_name":"Cystic fibrosis","level":2,"score":0.6611949801445007},{"id":"https://openalex.org/C2994554258","wikidata":"https://www.wikidata.org/wiki/Q183344","display_name":"Chronic sinusitis","level":3,"score":0.6458932757377625},{"id":"https://openalex.org/C2776433325","wikidata":"https://www.wikidata.org/wiki/Q1472818","display_name":"Common variable immunodeficiency","level":3,"score":0.5782741904258728},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.5624639987945557},{"id":"https://openalex.org/C2779019163","wikidata":"https://www.wikidata.org/wiki/Q3043160","display_name":"Primary immunodeficiency","level":3,"score":0.5206488966941833},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.45592430233955383},{"id":"https://openalex.org/C2778428886","wikidata":"https://www.wikidata.org/wiki/Q420470","display_name":"Cystic fibrosis transmembrane conductance regulator","level":3,"score":0.4289569556713104},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.3307652175426483},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.29392892122268677},{"id":"https://openalex.org/C159654299","wikidata":"https://www.wikidata.org/wiki/Q79460","display_name":"Antibody","level":2,"score":0.26583319902420044},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.2566347122192383},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.21736329793930054},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.12001195549964905},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.0828225314617157}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.jaci.2003.12.120","doi":"https://doi.org/10.1016/j.jaci.2003.12.120","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jaci.2003.12.120","pdf_url":null,"source":{"id":"https://openalex.org/S108525051","display_name":"Journal of Allergy and Clinical Immunology","issn_l":"0091-6749","issn":["0091-6749","1085-8725","1097-6825"],"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/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":"Journal of Allergy and Clinical Immunology","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":1.0}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2153932353","https://openalex.org/W2047786752","https://openalex.org/W2112850792","https://openalex.org/W1997994303","https://openalex.org/W2497366831","https://openalex.org/W2044444136","https://openalex.org/W2145710378","https://openalex.org/W2101191297","https://openalex.org/W2301270468","https://openalex.org/W2406998470"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-09-27T08:07:27.782135","created_date":"2016-06-24T00:00:00"}
