{"id":"https://openalex.org/W2064683151","doi":"https://doi.org/10.1159/000088682","title":"Disseminated Mycobacterium avium Infection in a 20-Year-Old Female with Partial Recessive IFN\u03b3R1 Deficiency","display_name":"Disseminated Mycobacterium avium Infection in a 20-Year-Old Female with Partial Recessive IFN\u03b3R1 Deficiency","publication_year":2005,"publication_date":"2005-10-13","ids":{"openalex":"https://openalex.org/W2064683151","doi":"https://doi.org/10.1159/000088682","mag":"2064683151","pmid":"https://pubmed.ncbi.nlm.nih.gov/16195661"},"language":"en","primary_location":{"id":"doi:10.1159/000088682","doi":"https://doi.org/10.1159/000088682","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000088682","pdf_url":null,"source":{"id":"https://openalex.org/S121535265","display_name":"Respiration","issn_l":"0025-7931","issn":["0025-7931","1423-0356"],"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-1","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Respiration","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/A5113655101","display_name":"Pawe\u0142 Remiszewski","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Pawe\u0142 Remiszewski","raw_affiliation_strings":["Third Department of Lung Diseases, National Tuberculosis and Chest Diseases Research Institute, Warsaw, Poland. remiszewski@igichp.edu.pl","Third Department of Lung Diseases,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Third Department of Lung Diseases, National Tuberculosis and Chest Diseases Research Institute, Warsaw, Poland. remiszewski@igichp.edu.pl","institution_ids":[]},{"raw_affiliation_string":"Third Department of Lung Diseases,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091866002","display_name":"Barbara Roszkowska-\u015ali\u017c","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Barbara Roszkowska-\u015aliz","raw_affiliation_strings":["Third Department of Lung Diseases,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Third Department of Lung Diseases,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077596485","display_name":"Jolanta Winek","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jolanta Winek","raw_affiliation_strings":["Third Department of Lung Diseases,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Third Department of Lung Diseases,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006975414","display_name":"Ariane L. A. Chapgier","orcid":"https://orcid.org/0000-0002-1734-0744","observed_orcids":["https://orcid.org/0000-0002-1734-0744"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210162046","display_name":"Human Genetic of Infectious Diseases","ror":"https://ror.org/04z4fen17","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I4210155509","https://openalex.org/I4210162046"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Ariane Chapgier","raw_affiliation_strings":["Unit\u00e9 d'Immunologie et d'H\u00e9matologie P\u00e9diatriques Laboratoire de G\u00e9n\u00e9tique Humaine des Maladies Infectieuses, Universit\u00e9 de Paris-INSERM U550, Facult\u00e9 de M\u00e9decine Necker, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit\u00e9 d'Immunologie et d'H\u00e9matologie P\u00e9diatriques Laboratoire de G\u00e9n\u00e9tique Humaine des Maladies Infectieuses, Universit\u00e9 de Paris-INSERM U550, Facult\u00e9 de M\u00e9decine Necker, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210162046"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111792287","display_name":"J. Feinberg","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210162046","display_name":"Human Genetic of Infectious Diseases","ror":"https://ror.org/04z4fen17","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I4210155509","https://openalex.org/I4210162046"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jacquelin Feinberg","raw_affiliation_strings":["Unit\u00e9 d'Immunologie et d'H\u00e9matologie P\u00e9diatriques Laboratoire de G\u00e9n\u00e9tique Humaine des Maladies Infectieuses, Universit\u00e9 de Paris-INSERM U550, Facult\u00e9 de M\u00e9decine Necker, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit\u00e9 d'Immunologie et d'H\u00e9matologie P\u00e9diatriques Laboratoire de G\u00e9n\u00e9tique Humaine des Maladies Infectieuses, Universit\u00e9 de Paris-INSERM U550, Facult\u00e9 de M\u00e9decine Necker, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210162046"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003466534","display_name":"Renata Langfort","orcid":"https://orcid.org/0000-0002-4105-4326","observed_orcids":["https://orcid.org/0000-0002-4105-4326"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Renata Langfort","raw_affiliation_strings":["Department of Pathology,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068171235","display_name":"Iwona Bestry","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Iwona Bestry","raw_affiliation_strings":["Department of Radiology,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Radiology,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008876885","display_name":"EWA M. AUGUSTYNOWICZ-KOPE\u0106","orcid":"https://orcid.org/0000-0001-6162-8748","observed_orcids":["https://orcid.org/0000-0001-6162-8748"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ewa Augustynowicz-Kope\u0107","raw_affiliation_strings":["Department of Microbiology, National Tuberculosis and Chest Diseases Research Institute, Warsaw, Poland, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Microbiology, National Tuberculosis and Chest Diseases Research Institute, Warsaw, Poland, and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039560131","display_name":"Jakub Ptak","orcid":"https://orcid.org/0009-0005-6655-0085","observed_orcids":["https://orcid.org/0009-0005-6655-0085"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jakub Ptak","raw_affiliation_strings":["Department of Radiology,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Radiology,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047928635","display_name":"Jean\u2010Laurent Casanova","orcid":"https://orcid.org/0000-0002-7782-4169","observed_orcids":["https://orcid.org/0000-0002-7782-4169"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210162046","display_name":"Human Genetic of Infectious Diseases","ror":"https://ror.org/04z4fen17","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I4210155509","https://openalex.org/I4210162046"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jean-Laurent Casanova","raw_affiliation_strings":["Unit\u00e9 d'Immunologie et d'H\u00e9matologie P\u00e9diatriques Laboratoire de G\u00e9n\u00e9tique Humaine des Maladies Infectieuses, Universit\u00e9 de Paris-INSERM U550, Facult\u00e9 de M\u00e9decine Necker, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit\u00e9 d'Immunologie et d'H\u00e9matologie P\u00e9diatriques Laboratoire de G\u00e9n\u00e9tique Humaine des Maladies Infectieuses, Universit\u00e9 de Paris-INSERM U550, Facult\u00e9 de M\u00e9decine Necker, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210162046"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5019348253","display_name":"Ewa Rowinska-Zakrzewska","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ewa Rowi\u0144ska-Zakrzewska","raw_affiliation_strings":["Third Department of Lung Diseases,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Third Department of Lung Diseases,","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.4791,"has_fulltext":false,"cited_by_count":48,"citation_normalized_percentile":{"value":0.81166898,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"73","issue":"3","first_page":"375","last_page":"378"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9110999703407288,"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":0.9110999703407288,"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/T11316","display_name":"Mycobacterium research and diagnosis","score":0.0828000009059906,"subfield":{"id":"https://openalex.org/subfields/2713","display_name":"Epidemiology"},"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/T10038","display_name":"Tuberculosis Research and Epidemiology","score":0.002899999963119626,"subfield":{"id":"https://openalex.org/subfields/2725","display_name":"Infectious Diseases"},"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/mycobacterium-avium-infection","display_name":"Mycobacterium avium infection","score":0.8510000109672546},{"id":"https://openalex.org/keywords/disseminated-mycobacteriosis","display_name":"disseminated mycobacteriosis","score":0.9670000076293945},{"id":"https://openalex.org/keywords/hypomorphic-mutation","display_name":"hypomorphic mutation","score":0.7400000095367432},{"id":"https://openalex.org/keywords/interferon-gamma-therapy","display_name":"interferon-gamma therapy","score":0.871999979019165},{"id":"https://openalex.org/keywords/bone-infection","display_name":"bone infection","score":0.4959999918937683},{"id":"https://openalex.org/keywords/pulmonary-mycobacterial-disease","display_name":"pulmonary mycobacterial infection","score":0.753000020980835},{"id":"https://openalex.org/keywords/brain-infection","display_name":"brain infection","score":0.5559999942779541},{"id":"https://openalex.org/keywords/bcg-vaccination","display_name":"BCG vaccination","score":0.6930000185966492}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8693550825119019},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.5645399689674377},{"id":"https://openalex.org/C2777975735","wikidata":"https://www.wikidata.org/wiki/Q130971","display_name":"Mycobacterium tuberculosis","level":3,"score":0.5579175353050232},{"id":"https://openalex.org/C2780374374","wikidata":"https://www.wikidata.org/wiki/Q194309","display_name":"Mycobacterium","level":3,"score":0.4915944039821625},{"id":"https://openalex.org/C2781069245","wikidata":"https://www.wikidata.org/wiki/Q12204","display_name":"Tuberculosis","level":2,"score":0.4903011620044708},{"id":"https://openalex.org/C2780841837","wikidata":"https://www.wikidata.org/wiki/Q24741149","display_name":"Interferon gamma","level":3,"score":0.42531895637512207},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4206988513469696},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2515137493610382},{"id":"https://openalex.org/C2778690821","wikidata":"https://www.wikidata.org/wiki/Q212354","display_name":"Cytokine","level":2,"score":0.23201775550842285},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.14775004982948303},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.08927583694458008},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000096743","descriptor_name":"Interferon gamma Receptor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003937","descriptor_name":"Diagnosis, Differential","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007153","descriptor_name":"Immunologic Deficiency Syndromes","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D007153","descriptor_name":"Immunologic Deficiency Syndromes","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D007153","descriptor_name":"Immunologic Deficiency Syndromes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D007371","descriptor_name":"Interferon-gamma","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009162","descriptor_name":"Mycobacterium avium","qualifier_ui":"Q000302","qualifier_name":"isolation & purification","is_major_topic":true},{"descriptor_ui":"D014376","descriptor_name":"Tuberculosis","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D014376","descriptor_name":"Tuberculosis","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D014376","descriptor_name":"Tuberculosis","qualifier_ui":"Q000382","qualifier_name":"microbiology","is_major_topic":false},{"descriptor_ui":"D015870","descriptor_name":"Gene Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017471","descriptor_name":"Receptors, Interferon","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D017471","descriptor_name":"Receptors, Interferon","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1159/000088682","doi":"https://doi.org/10.1159/000088682","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000088682","pdf_url":null,"source":{"id":"https://openalex.org/S121535265","display_name":"Respiration","issn_l":"0025-7931","issn":["0025-7931","1423-0356"],"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-1","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Respiration","raw_type":"journal-article"},{"id":"pmid:16195661","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16195661","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":"Respiration; international review of thoracic diseases","raw_type":"Case Reports"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:1356253","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/1356253/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"RESPIRATION , 73 (3) pp. 375-378. (2006)","raw_type":"Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9907000064849854}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":16,"referenced_works":["https://openalex.org/W1975818868","https://openalex.org/W1976205488","https://openalex.org/W1987265932","https://openalex.org/W1995225418","https://openalex.org/W2003627552","https://openalex.org/W2004192405","https://openalex.org/W2018995171","https://openalex.org/W2028098966","https://openalex.org/W2029779138","https://openalex.org/W2043901802","https://openalex.org/W2080385201","https://openalex.org/W2109830199","https://openalex.org/W2143880476","https://openalex.org/W2157376708","https://openalex.org/W2161613567","https://openalex.org/W2171382646"],"related_works":["https://openalex.org/W7073974148","https://openalex.org/W627352921","https://openalex.org/W2095961369","https://openalex.org/W2122919633","https://openalex.org/W2987895717","https://openalex.org/W1974346242","https://openalex.org/W2551563929","https://openalex.org/W4411263899","https://openalex.org/W2073822142","https://openalex.org/W2003756444"],"abstract_inverted_index":{"We":[0],"report":[1,105],"the":[2,24,63,66,70,77,107,114],"case":[3],"of":[4,41,52,69,110,117,124],"a":[5],"20-year-old":[6],"female":[7],"with":[8,31,43,94,101,134],"disseminated":[9],"Mycobacterium":[10],"avium":[11],"disease":[12],"involving":[13],"bones,":[14],"lungs":[15],"and":[16,27,46,85,98],"brain.":[17],"She":[18],"was":[19,47,60],"completely":[20],"healthy":[21],"up":[22],"until":[23],"present":[25],"illness":[26],"had":[28,86],"been":[29,87],"vaccinated":[30],"BCG":[32,96],"in":[33,39,62,83,90,132],"infancy":[34],"without":[35],"complications.":[36],"Mycobacteriosis":[37],"progressed":[38],"spite":[40],"treatment":[42],"antituberculous":[44],"drugs":[45],"controlled":[48],"only":[49,78,91],"after":[50],"addition":[51],"interferon-gamma":[53],"subcutaneously.":[54],"A":[55,122],"homozygous":[56],"hypomorphic":[57,81],"I87T":[58],"mutation":[59,75],"found":[61],"gene":[64],"encoding":[65],"ligand-binding":[67],"chain":[68],"IFN-gamma":[71],"receptor":[72],"(IFNgammaR1).":[73],"This":[74],"is":[76],"known":[79],"recessive":[80,119,126],"lesion":[82],"IFNGR1":[84],"reported":[88],"before":[89],"1":[92],"child":[93],"curable":[95],"infection":[97],"his":[99],"sibling":[100],"primary":[102],"tuberculosis.":[103],"Our":[104],"illustrates":[106],"clinical":[108],"heterogeneity":[109],"patients":[111],"sharing":[112],"exactly":[113],"same":[115],"form":[116],"partial":[118,125],"IFNgammaR1":[120,127],"deficiency.":[121],"diagnosis":[123],"deficiency":[128],"should":[129],"be":[130],"contemplated":[131],"adults":[133],"unexplained":[135],"environmental":[136],"mycobacterial":[137],"diseases.":[138]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":4},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
