{"id":"https://openalex.org/W2078080804","doi":"https://doi.org/10.1182/blood.v97.1.305","title":"Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in theNCF-1 pseudogenes","display_name":"Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in theNCF-1 pseudogenes","publication_year":2001,"publication_date":"2001-01-01","ids":{"openalex":"https://openalex.org/W2078080804","doi":"https://doi.org/10.1182/blood.v97.1.305","mag":"2078080804","pmid":"https://pubmed.ncbi.nlm.nih.gov/11133775"},"language":"en","primary_location":{"id":"doi:10.1182/blood.v97.1.305","doi":"https://doi.org/10.1182/blood.v97.1.305","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v97.1.305","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"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":"Blood","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W2078080804"],"child_works_count":0,"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/A5044779621","display_name":"Deborah Noack","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I123431417","display_name":"Scripps Research Institute","ror":"https://ror.org/02dxx6824","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I123431417"]},{"id":"https://openalex.org/I166722992","display_name":"University of Massachusetts Chan Medical School","ror":"https://ror.org/0464eyp60","country_code":"US","type":"education","lineage":["https://openalex.org/I166722992"]},{"id":"https://openalex.org/I183934855","display_name":"Genentech","ror":"https://ror.org/04gndp242","country_code":"US","type":"company","lineage":["https://openalex.org/I118019719","https://openalex.org/I129302853","https://openalex.org/I183934855"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Deborah Noack","raw_affiliation_strings":["From the Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA; the Department of Immunology, Genentech, San Francisco, CA; and the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","the Department of Immunology, Genentech, San Francisco, CA","the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA; the Department of Immunology, Genentech, San Francisco, CA; and the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","institution_ids":["https://openalex.org/I123431417","https://openalex.org/I166722992","https://openalex.org/I183934855"]},{"raw_affiliation_string":"the Department of Immunology, Genentech, San Francisco, CA","institution_ids":["https://openalex.org/I183934855"]},{"raw_affiliation_string":"the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","institution_ids":["https://openalex.org/I166722992"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076503866","display_name":"Julie Rae","orcid":"https://orcid.org/0000-0002-7840-8570","observed_orcids":["https://orcid.org/0000-0002-7840-8570"]},"institutions":[{"id":"https://openalex.org/I123431417","display_name":"Scripps Research Institute","ror":"https://ror.org/02dxx6824","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I123431417"]},{"id":"https://openalex.org/I166722992","display_name":"University of Massachusetts Chan Medical School","ror":"https://ror.org/0464eyp60","country_code":"US","type":"education","lineage":["https://openalex.org/I166722992"]},{"id":"https://openalex.org/I183934855","display_name":"Genentech","ror":"https://ror.org/04gndp242","country_code":"US","type":"company","lineage":["https://openalex.org/I118019719","https://openalex.org/I129302853","https://openalex.org/I183934855"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Julie Rae","raw_affiliation_strings":["From the Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA; the Department of Immunology, Genentech, San Francisco, CA; and the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","the Department of Immunology, Genentech, San Francisco, CA","the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA; the Department of Immunology, Genentech, San Francisco, CA; and the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","institution_ids":["https://openalex.org/I123431417","https://openalex.org/I166722992","https://openalex.org/I183934855"]},{"raw_affiliation_string":"the Department of Immunology, Genentech, San Francisco, CA","institution_ids":["https://openalex.org/I183934855"]},{"raw_affiliation_string":"the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","institution_ids":["https://openalex.org/I166722992"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111851099","display_name":"Andrew R. Cross","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I123431417","display_name":"Scripps Research Institute","ror":"https://ror.org/02dxx6824","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I123431417"]},{"id":"https://openalex.org/I166722992","display_name":"University of Massachusetts Chan Medical School","ror":"https://ror.org/0464eyp60","country_code":"US","type":"education","lineage":["https://openalex.org/I166722992"]},{"id":"https://openalex.org/I183934855","display_name":"Genentech","ror":"https://ror.org/04gndp242","country_code":"US","type":"company","lineage":["https://openalex.org/I118019719","https://openalex.org/I129302853","https://openalex.org/I183934855"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew R. Cross","raw_affiliation_strings":["From the Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA; the Department of Immunology, Genentech, San Francisco, CA; and the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","the Department of Immunology, Genentech, San Francisco, CA","the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA; the Department of Immunology, Genentech, San Francisco, CA; and the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","institution_ids":["https://openalex.org/I123431417","https://openalex.org/I166722992","https://openalex.org/I183934855"]},{"raw_affiliation_string":"the Department of Immunology, Genentech, San Francisco, CA","institution_ids":["https://openalex.org/I183934855"]},{"raw_affiliation_string":"the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","institution_ids":["https://openalex.org/I166722992"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053475768","display_name":"Beverly A. Ellis","orcid":"https://orcid.org/0000-0001-6876-1576","observed_orcids":["https://orcid.org/0000-0001-6876-1576"]},"institutions":[{"id":"https://openalex.org/I123431417","display_name":"Scripps Research Institute","ror":"https://ror.org/02dxx6824","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I123431417"]},{"id":"https://openalex.org/I166722992","display_name":"University of Massachusetts Chan Medical School","ror":"https://ror.org/0464eyp60","country_code":"US","type":"education","lineage":["https://openalex.org/I166722992"]},{"id":"https://openalex.org/I183934855","display_name":"Genentech","ror":"https://ror.org/04gndp242","country_code":"US","type":"company","lineage":["https://openalex.org/I118019719","https://openalex.org/I129302853","https://openalex.org/I183934855"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Beverly A. Ellis","raw_affiliation_strings":["From the Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA; the Department of Immunology, Genentech, San Francisco, CA; and the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","the Department of Immunology, Genentech, San Francisco, CA","the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA; the Department of Immunology, Genentech, San Francisco, CA; and the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","institution_ids":["https://openalex.org/I123431417","https://openalex.org/I166722992","https://openalex.org/I183934855"]},{"raw_affiliation_string":"the Department of Immunology, Genentech, San Francisco, CA","institution_ids":["https://openalex.org/I183934855"]},{"raw_affiliation_string":"the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","institution_ids":["https://openalex.org/I166722992"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065215242","display_name":"Peter E. Newburger","orcid":"https://orcid.org/0000-0002-8615-673X","observed_orcids":["https://orcid.org/0000-0002-8615-673X"]},"institutions":[{"id":"https://openalex.org/I123431417","display_name":"Scripps Research Institute","ror":"https://ror.org/02dxx6824","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I123431417"]},{"id":"https://openalex.org/I166722992","display_name":"University of Massachusetts Chan Medical School","ror":"https://ror.org/0464eyp60","country_code":"US","type":"education","lineage":["https://openalex.org/I166722992"]},{"id":"https://openalex.org/I183934855","display_name":"Genentech","ror":"https://ror.org/04gndp242","country_code":"US","type":"company","lineage":["https://openalex.org/I118019719","https://openalex.org/I129302853","https://openalex.org/I183934855"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Peter E. Newburger","raw_affiliation_strings":["From the Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA; the Department of Immunology, Genentech, San Francisco, CA; and the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","the Department of Immunology, Genentech, San Francisco, CA","the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA; the Department of Immunology, Genentech, San Francisco, CA; and the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","institution_ids":["https://openalex.org/I123431417","https://openalex.org/I166722992","https://openalex.org/I183934855"]},{"raw_affiliation_string":"the Department of Immunology, Genentech, San Francisco, CA","institution_ids":["https://openalex.org/I183934855"]},{"raw_affiliation_string":"the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","institution_ids":["https://openalex.org/I166722992"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109282032","display_name":"John T. Curnutte","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I123431417","display_name":"Scripps Research Institute","ror":"https://ror.org/02dxx6824","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I123431417"]},{"id":"https://openalex.org/I166722992","display_name":"University of Massachusetts Chan Medical School","ror":"https://ror.org/0464eyp60","country_code":"US","type":"education","lineage":["https://openalex.org/I166722992"]},{"id":"https://openalex.org/I183934855","display_name":"Genentech","ror":"https://ror.org/04gndp242","country_code":"US","type":"company","lineage":["https://openalex.org/I118019719","https://openalex.org/I129302853","https://openalex.org/I183934855"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John T. Curnutte","raw_affiliation_strings":["From the Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA; the Department of Immunology, Genentech, San Francisco, CA; and the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","the Department of Immunology, Genentech, San Francisco, CA","the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA; the Department of Immunology, Genentech, San Francisco, CA; and the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","institution_ids":["https://openalex.org/I123431417","https://openalex.org/I166722992","https://openalex.org/I183934855"]},{"raw_affiliation_string":"the Department of Immunology, Genentech, San Francisco, CA","institution_ids":["https://openalex.org/I183934855"]},{"raw_affiliation_string":"the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","institution_ids":["https://openalex.org/I166722992"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5112012083","display_name":"Paul G. Heyworth","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I123431417","display_name":"Scripps Research Institute","ror":"https://ror.org/02dxx6824","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I123431417"]},{"id":"https://openalex.org/I166722992","display_name":"University of Massachusetts Chan Medical School","ror":"https://ror.org/0464eyp60","country_code":"US","type":"education","lineage":["https://openalex.org/I166722992"]},{"id":"https://openalex.org/I183934855","display_name":"Genentech","ror":"https://ror.org/04gndp242","country_code":"US","type":"company","lineage":["https://openalex.org/I118019719","https://openalex.org/I129302853","https://openalex.org/I183934855"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Paul G. Heyworth","raw_affiliation_strings":["From the Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA; the Department of Immunology, Genentech, San Francisco, CA; and the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","the Department of Immunology, Genentech, San Francisco, CA","the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA; the Department of Immunology, Genentech, San Francisco, CA; and the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","institution_ids":["https://openalex.org/I123431417","https://openalex.org/I166722992","https://openalex.org/I183934855"]},{"raw_affiliation_string":"the Department of Immunology, Genentech, San Francisco, CA","institution_ids":["https://openalex.org/I183934855"]},{"raw_affiliation_string":"the Departments of Pediatrics and Molecular Genetics/Microbiology, University of Massachusetts Medical School, Worcester, MA","institution_ids":["https://openalex.org/I166722992"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":2.8234,"has_fulltext":false,"cited_by_count":90,"citation_normalized_percentile":{"value":0.91220341,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":87,"max":98},"biblio":{"volume":"97","issue":"1","first_page":"305","last_page":"311"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11597","display_name":"Neutrophil, Myeloperoxidase and Oxidative Mechanisms","score":0.6758000254631042,"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/T11597","display_name":"Neutrophil, Myeloperoxidase and Oxidative Mechanisms","score":0.6758000254631042,"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.31540000438690186,"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":0.0012000000569969416,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/chronic-granulomatous-disease","display_name":"chronic granulomatous disease","score":0.949999988079071},{"id":"https://openalex.org/keywords/p47phox","display_name":"p47phox","score":0.9900000095367432},{"id":"https://openalex.org/keywords/nadph-oxidase","display_name":"NADPH oxidase","score":0.9440000057220459},{"id":"https://openalex.org/keywords/primary-immunodeficiency","display_name":"primary immunodeficiency","score":0.8700000047683716},{"id":"https://openalex.org/keywords/pseudogenes","display_name":"pseudogenes","score":0.7919999957084656},{"id":"https://openalex.org/keywords/recombination","display_name":"recombination","score":0.6919999718666077},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.6140000224113464},{"id":"https://openalex.org/keywords/splice-site-variant","display_name":"splice site mutation","score":0.8619999885559082},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8650000095367432},{"id":"https://openalex.org/keywords/exon-2-deletion","display_name":"exon 2 deletion","score":0.5789999961853027},{"id":"https://openalex.org/keywords/allele-specific-pcr","display_name":"allele-specific PCR","score":0.6039999723434448},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.6669999957084656}],"concepts":[{"id":"https://openalex.org/C2778175462","wikidata":"https://www.wikidata.org/wiki/Q2165663","display_name":"Chronic granulomatous disease","level":2,"score":0.9301744103431702},{"id":"https://openalex.org/C34957205","wikidata":"https://www.wikidata.org/wiki/Q277338","display_name":"Pseudogene","level":4,"score":0.7475549578666687},{"id":"https://openalex.org/C2777700362","wikidata":"https://www.wikidata.org/wiki/Q107647","display_name":"Phagocyte","level":3,"score":0.6304945349693298},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6150413155555725},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5220806002616882},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4689312279224396},{"id":"https://openalex.org/C2910826258","wikidata":"https://www.wikidata.org/wiki/Q164727","display_name":"Ornithosis","level":2,"score":0.44386714696884155},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.43830451369285583},{"id":"https://openalex.org/C159047783","wikidata":"https://www.wikidata.org/wiki/Q7215","display_name":"Virology","level":1,"score":0.2368025779724121},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.11313459277153015},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.10775074362754822}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","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":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005192","descriptor_name":"Family Health","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":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006105","descriptor_name":"Granulomatous Disease, Chronic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010750","descriptor_name":"Phosphoproteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011544","descriptor_name":"Pseudogenes","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":"D019255","descriptor_name":"NADPH Oxidases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1182/blood.v97.1.305","doi":"https://doi.org/10.1182/blood.v97.1.305","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v97.1.305","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"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":"Blood","raw_type":"journal-article"},{"id":"pmid:11133775","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11133775","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":"Blood","raw_type":"Journal Article"},{"id":"pmh:oai:escholarship.umassmed.edu:peds_hematology-1033","doi":null,"is_oa":false,"landing_page_url":"https://escholarship.umassmed.edu/peds_hematology/34","pdf_url":null,"source":{"id":"https://openalex.org/S4306400883","display_name":"The Journal of the American Medical Association (JAMA) Network (American Medical Association)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I173654999","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/I173654999"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Hematology/Oncology","raw_type":"text"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1496046944","display_name":null,"funder_award_id":"CA68276","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G1989243873","display_name":"HOX cluster intergenic non-coding RNAs in myeloid differentiation and function","funder_award_id":"R01DK054369","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G3935902605","display_name":"Regulation of superoxide production by human neutrophils","funder_award_id":"R01AI024838","funder_id":"https://openalex.org/F4320337355","funder_display_name":"National Institute of Allergy and Infectious Diseases"}],"funders":[{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"},{"id":"https://openalex.org/F4320337355","display_name":"National Institute of Allergy and Infectious Diseases","ror":"https://ror.org/043z4tv69"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":29,"referenced_works":["https://openalex.org/W1482406849","https://openalex.org/W1534058357","https://openalex.org/W1540247897","https://openalex.org/W1558193417","https://openalex.org/W1579721654","https://openalex.org/W1583760582","https://openalex.org/W1940122864","https://openalex.org/W1966235288","https://openalex.org/W1983954245","https://openalex.org/W1986439862","https://openalex.org/W2009114579","https://openalex.org/W2013070909","https://openalex.org/W2033588134","https://openalex.org/W2042535720","https://openalex.org/W2067917889","https://openalex.org/W2070205532","https://openalex.org/W2075186587","https://openalex.org/W2080776266","https://openalex.org/W2090653160","https://openalex.org/W2115149771","https://openalex.org/W2137500327","https://openalex.org/W2149851012","https://openalex.org/W2162298665","https://openalex.org/W2273182991","https://openalex.org/W2401077755","https://openalex.org/W2414057542","https://openalex.org/W2463249350","https://openalex.org/W4245003478","https://openalex.org/W6698124657"],"related_works":["https://openalex.org/W2030064390","https://openalex.org/W1996488223","https://openalex.org/W1534058357","https://openalex.org/W2909076193","https://openalex.org/W2939213312","https://openalex.org/W2042535720","https://openalex.org/W2075689611","https://openalex.org/W2040327313","https://openalex.org/W4409786223","https://openalex.org/W2266007436"],"abstract_inverted_index":{"Chronic":[0],"granulomatous":[1],"disease":[2],"(CGD)":[3],"is":[4,29,255],"a":[5,46,49,214,227,241],"primary":[6],"immunodeficiency":[7],"caused":[8],"by":[9],"defects":[10],"in":[11,26,38,53,76,95,125,165,176,259],"any":[12],"one":[13,224],"of":[14,35,56,115,123,142,191,203,229,237,268],"4":[15,87,144],"genes":[16],"encoding":[17],"phagocyte":[18],"NADPH":[19],"oxidase":[20],"subunits.":[21],"Unlike":[22],"other":[23],"CGD":[24,44],"subtypes,":[25],"which":[27,77,249],"there":[28],"great":[30],"heterogeneity":[31],"among":[32],"mutations,":[33,161],"97%":[34],"affected":[36],"alleles":[37,136],"patients":[39,83,145,205],"previously":[40],"reported":[41],"with":[42,84,217],"A47(0)":[43,85],"carry":[45],"single":[47,242],"mutation,":[48],"GT":[50,211],"deletion":[51,228],"(DeltaGT)":[52],"exon":[54,166,177,269],"2":[55,102,159,167,183,204],"the":[57,99,121,143,188,210,218,232,235,265],"p47-phox":[58],"gene,":[59],"NCF-1.":[60],"This":[61],"unusually":[62],"high":[63],"incidence":[64],"results":[65],"from":[66],"recombination":[67],"events":[68],"between":[69],"NCF-1":[70],"and":[71,97,118,172,182,197,226],"its":[72],"highly":[73],"homologous":[74],"pseudogenes,":[75],"DeltaGT":[78,94],"originates.":[79],"In":[80,140,234],"50":[81],"consecutive":[82],"CGD,":[86],"were":[88,91,103,147,158],"identified":[89,104],"who":[90,146,206],"heterozygous":[92,148],"for":[93,98,149],"NCF-1,":[96],"first":[100,202],"time,":[101],"whose":[105],"DNA":[106],"appeared":[107,207],"normal":[108,208],"at":[109,187,196,209],"this":[110],"position.":[111],"To":[112],"avoid":[113],"co-amplification":[114],"pseudogene":[116],"sequence":[117],"to":[119,134,257],"enable":[120],"identification":[122],"mutations":[124,186],"these":[126,238],"patients,":[127,239],"allele-specific":[128],"polymerase":[129],"chain":[130],"reaction":[131],"was":[132,155,213,244],"used":[133],"amplify":[135],"not":[137],"containing":[138],"DeltaGT.":[139],"each":[141],"DeltaGT,":[150],"an":[151],"additional":[152],"novel":[153],"mutation":[154],"identified.":[156],"These":[157],"missense":[160],"G125":[162,219],"-->":[163,170,174,180,195,199,220,247,252],"A":[164,175,221],"(predicting":[168],"Arg42":[169],"Gln)":[171],"G784":[173],"8":[178],"(Gly262":[179],"Ser),":[181],"splice":[184],"junction":[185],"5'":[189],"end":[190],"intron":[192],"1,":[193],"gt":[194],"gtg":[198],"gtt.":[200],"The":[201],"position":[212],"compound":[215],"heterozygote":[216],"transition":[222],"on":[223,231],"allele":[225],"G811":[230],"other.":[233],"second":[236],"only":[240],"defect":[243],"detected,":[245],"G574":[246],"A,":[248],"predicts":[250],"Gly192":[251],"Ser":[253],"but":[254],"likely":[256],"result":[258],"defective":[260],"splicing":[261],"because":[262],"it":[263],"represents":[264],"final":[266],"nucleotide":[267],"6.":[270]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":3},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":5}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}