{"id":"https://openalex.org/W2583027639","doi":"https://doi.org/10.1182/blood.v120.21.2141.2141","title":"The Natural History of Cyclic Neutropenia: Long-Term Prospective Observations and Current Perspectives.","display_name":"The Natural History of Cyclic Neutropenia: Long-Term Prospective Observations and Current Perspectives.","publication_year":2012,"publication_date":"2012-11-16","ids":{"openalex":"https://openalex.org/W2583027639","doi":"https://doi.org/10.1182/blood.v120.21.2141.2141","mag":"2583027639"},"language":"en","primary_location":{"id":"doi:10.1182/blood.v120.21.2141.2141","doi":"https://doi.org/10.1182/blood.v120.21.2141.2141","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v120.21.2141.2141","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"},"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/A5015520404","display_name":"David C. Dale","orcid":"https://orcid.org/0000-0002-7146-1440","observed_orcids":["https://orcid.org/0000-0002-7146-1440"]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David C. Dale","raw_affiliation_strings":["Medicine, University of Washington, Seattle, WA, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medicine, University of Washington, Seattle, WA, USA,","institution_ids":["https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082170535","display_name":"Audrey Anna Bolyard","orcid":"https://orcid.org/0000-0001-5131-1923","observed_orcids":["https://orcid.org/0000-0001-5131-1923"]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Audrey Anna Bolyard","raw_affiliation_strings":["Dept of Medicine, University of Washington, The Severe Chronic Neutropenia International Registry, Seattle, WA, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept of Medicine, University of Washington, The Severe Chronic Neutropenia International Registry, Seattle, WA, USA,","institution_ids":["https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067753671","display_name":"Tracy M. Marrero","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tracy M. Marrero","raw_affiliation_strings":["Dept Medicine, University of Washington, The Severe Chronic Neutropenia International Registry, Seattle, WA, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept Medicine, University of Washington, The Severe Chronic Neutropenia International Registry, Seattle, WA, USA,","institution_ids":["https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112012768","display_name":"Mary Ann Bonilla","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210139353","display_name":"St. Joseph\u2019s Children\u2019s Hospital","ror":"https://ror.org/04qj9wg75","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210139353"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mary Ann Bonilla","raw_affiliation_strings":["Pediatric Hematology Oncology, St. Joseph's Children's Hospital, Paterson, NJ, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Hematology Oncology, St. Joseph's Children's Hospital, Paterson, NJ, USA,","institution_ids":["https://openalex.org/I4210139353"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049284725","display_name":"Daniel C. Link","orcid":"https://orcid.org/0000-0002-3170-7581","observed_orcids":["https://orcid.org/0000-0002-3170-7581"]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Daniel C. Link","raw_affiliation_strings":["Oncology, Washington University in St. Louis, St. Louis, MO, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Oncology, Washington University in St. Louis, St. Louis, MO, USA,","institution_ids":["https://openalex.org/I204465549"]}]},{"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/I166722992","display_name":"University of Massachusetts Chan Medical School","ror":"https://ror.org/0464eyp60","country_code":"US","type":"education","lineage":["https://openalex.org/I166722992"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Peter E. Newburger","raw_affiliation_strings":["Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA, USA,","institution_ids":["https://openalex.org/I166722992"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045753320","display_name":"Akiko Shimamura","orcid":"https://orcid.org/0000-0002-4683-9958","observed_orcids":["https://orcid.org/0000-0002-4683-9958"]},"institutions":[{"id":"https://openalex.org/I4210089486","display_name":"Fred Hutch Cancer Center","ror":"https://ror.org/007ps6h72","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210089486"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Akiko Shimamura","raw_affiliation_strings":["Pediatric Hem./Onc., Fred Hutchinson Cancer Research Center, Seattle, WA, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Hem./Onc., Fred Hutchinson Cancer Research Center, Seattle, WA, USA,","institution_ids":["https://openalex.org/I4210089486"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109593257","display_name":"Laurence A. Boxer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]},{"id":"https://openalex.org/I4210114445","display_name":"Michigan Medicine","ror":"https://ror.org/01zcpa714","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210114445"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laurence A. Boxer","raw_affiliation_strings":["University of Michigan Health Systems, Ann Arbor, MI, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Michigan Health Systems, Ann Arbor, MI, USA,","institution_ids":["https://openalex.org/I27837315","https://openalex.org/I4210114445"]}]},{"author_position":"last","author":{"id":null,"display_name":"for The Severe Chronic Neutropenia International Registry and Repository","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"for The Severe Chronic Neutropenia International Registry and Repository","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.38022303,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":"120","issue":"21","first_page":"2141","last_page":"2141"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":1.0,"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"}},{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.0,"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/T12172","display_name":"Neutropenia and Cancer Infections","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/cyclic-neutropenia","display_name":"cyclic neutropenia","score":0.9990000128746033},{"id":"https://openalex.org/keywords/natural-history-disease","display_name":"natural history (disease)","score":0.8799999952316284},{"id":"https://openalex.org/keywords/elane-mutations","display_name":"ELANE mutations","score":0.8309999704360962},{"id":"https://openalex.org/keywords/neutrophil-elastase","display_name":"neutrophil elastase","score":0.9620000123977661},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.949999988079071},{"id":"https://openalex.org/keywords/sporadic-cases","display_name":"sporadic cases","score":0.6179999709129333},{"id":"https://openalex.org/keywords/g-csf-therapy","display_name":"G-CSF therapy","score":0.7170000076293945},{"id":"https://openalex.org/keywords/long-term-follow-up","display_name":"long-term follow-up","score":0.6019999980926514},{"id":"https://openalex.org/keywords/monocytosis","display_name":"monocytosis","score":0.7009999752044678},{"id":"https://openalex.org/keywords/anemia","display_name":"anemia","score":0.6809999942779541},{"id":"https://openalex.org/keywords/childhood-symptoms","display_name":"childhood symptoms","score":0.3269999921321869},{"id":"https://openalex.org/keywords/congenital-neutropenia","display_name":"congenital neutropenia","score":0.656000018119812},{"id":"https://openalex.org/keywords/quality-of-life","display_name":"quality of life","score":0.38600000739097595}],"concepts":[{"id":"https://openalex.org/C2777063308","wikidata":"https://www.wikidata.org/wiki/Q1435822","display_name":"Neutropenia","level":3,"score":0.8071620464324951},{"id":"https://openalex.org/C2778527355","wikidata":"https://www.wikidata.org/wiki/Q5198214","display_name":"Cyclic neutropenia","level":4,"score":0.753704845905304},{"id":"https://openalex.org/C2908751872","wikidata":"https://www.wikidata.org/wiki/Q1337441","display_name":"Congenital Neutropenia","level":4,"score":0.6777123212814331},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6070764064788818},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.47809740900993347},{"id":"https://openalex.org/C2778248108","wikidata":"https://www.wikidata.org/wiki/Q5445","display_name":"Anemia","level":2,"score":0.4343150854110718},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4012198746204376},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.37809038162231445},{"id":"https://openalex.org/C2776694085","wikidata":"https://www.wikidata.org/wiki/Q974135","display_name":"Chemotherapy","level":2,"score":0.114452064037323}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1182/blood.v120.21.2141.2141","doi":"https://doi.org/10.1182/blood.v120.21.2141.2141","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v120.21.2141.2141","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"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9940000176429749}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W125914851","https://openalex.org/W4389346296","https://openalex.org/W2970597446","https://openalex.org/W4249749145","https://openalex.org/W2971190421","https://openalex.org/W2791600914","https://openalex.org/W4407983122","https://openalex.org/W2551953317","https://openalex.org/W3030098474","https://openalex.org/W3211973465"],"abstract_inverted_index":{"Abstract":[0,1],"2141":[2],"Cyclic":[3,19],"neutropenia":[4,20,64,260,268,285,560],"(CyN)":[5],"is":[6,21,47,94,106,261,343,561],"an":[7,74,237,243],"autosomal":[8,166],"dominant":[9,167],"and":[10,37,73,134,157,258,269,330,365,452,497,506,572],"sporadically":[11],"occurring":[12,33],"hematological":[13,564],"disease":[14],"first":[15,355],"described":[16],"in":[17,24,97,109,113,224,327,522,537,540,548],"1910.":[18],"usually":[22,58,366],"diagnosed":[23],"children":[25,111],"before":[26],"age":[27],"2":[28,426,465,471],"years":[29,526],"based":[30],"of":[31,61,103,145,152,182,190,198,212,219,236,240,283,322,335,357,381,400,402,413,430,450,469,527,535,576],"regularly":[32],"fever,":[34,403],"mouth":[35,404],"ulcers,":[36,405],"recurrent":[38,100],"skin":[39],"or":[40,124,227,276,313,376,407,432,478],"respiratory":[41],"infections.":[42,101],"In":[43,437],"affected":[44],"families,":[45],"recognition":[46],"generally":[48],"earlier":[49],"than":[50,79,112,425,511,524],"for":[51,171,174,180,201,316,332,362,423,448],"the":[52,89,128,142,172,248,259,274,281,320,328,338,350,354,532,541],"sporadic":[53,155],"cases.":[54],"Serial":[55],"neutrophil":[56,175],"counts":[57],"show":[59],"periods":[60],"very":[62,566],"severe":[63,118,266],"(ANC<":[65],"0.2":[66],"\u00d7":[67,81,234],"109/L)":[68,235],"at":[69,186],"three":[70],"week":[71],"intervals":[72],"intervening":[75],"peak":[76],"ANC":[77],"less":[78],"2.0":[80],"109/L.":[82],"A":[83,386],"reciprocal":[84],"monocytosis":[85],"often":[86,116],"occurs":[87],"during":[88,353],"neutropenic":[90,300],"period.":[91],"Mild":[92],"anemia":[93],"common,":[95],"particularly":[96,373],"patients":[98,147,159,184,200,301,305,325,388,417,519,539,550],"with":[99,148,207,242,265,302,374,484,493,503,570],"Cycling":[102],"blood":[104,213],"neutrophils":[105,214],"more":[107,523],"apparent":[108],"young":[110],"adults,":[114],"who":[115,389,418],"report":[117],"childhood":[119],"symptoms":[120,257,431],"ameliorating":[121],"near":[122],"puberty":[123],"soon":[125],"thereafter.":[126],"Through":[127],"Severe":[129],"Chronic":[130],"Neutropenia":[131],"International":[132],"Registry":[133],"Repository-":[135],"Seattle":[136],"(SCNIR-Seattle)":[137],"we":[138,296],"have":[139,194,217,247,255,273,297,306,347,390,396,419,459,515],"prospectively":[140,195],"studied":[141],"natural":[143],"history":[144],"348":[146],"a":[149,311,333,384,562],"clinical":[150],"diagnosis":[151,282],"CyN,":[153],"181":[154],"cases":[156],"167":[158],"from":[160,291,462,472,476,481],"36":[161],"families":[162],"whose":[163],"pedigrees":[164],"illustrate":[165],"inheritance.":[168],"Sequencing":[169],"results":[170],"gene":[173],"elastase,":[176],"ELANE,":[177,220],"are":[178,371,410],"available":[179],"119":[181],"these":[183,199],"including":[185],"least":[187],"one":[188,498],"member":[189],"18":[191],"families.":[192],"We":[193,346,409],"followed":[196,489],"all":[197,395],"up":[202],"to":[203,434,467,557,568,578],"25":[204,317],"years.":[205,318],"Patients":[206,264],"typical,":[208],"21":[209],"day":[210],"oscillations":[211],"almost":[215,394],"always":[216],"mutations":[218],"most":[221],"frequently":[222],"mutation":[223,245,292],"exons":[225],"4":[226],"5.":[228],"Neutropenic":[229],"relatives":[230],"(ANC":[231],"<":[232],"1.5":[233],"index":[238],"case":[239],"CyN":[241,270,416,451,518,538,549],"ELANE":[244,250],"uniformly":[246],"same":[249,275],"mutation,":[251],"even":[252],"if":[253],"they":[254],"few":[256,387],"not":[262,287,517,545],"severe.":[263],"congenital":[267],"may":[271],"also":[272],"nearly":[277],"identical":[278],"mutations;":[279],"thus":[280],"cyclic":[284,299,559],"can":[286,359],"be":[288,360],"made":[289],"solely":[290],"analysis.":[293],"Since":[294],"1987":[295],"treated":[298,324,331,492,500],"G-CSF;":[303,393],"some":[304],"been":[307,442,516,546],"on":[308,310,551],"G-CSF":[309,341,398,421,435,454,494,507,571],"daily":[312,340,375],"alternate-day":[314,377],"basis":[315],"For":[319],"population":[321],"209":[323],"enrolled":[326],"SCNIR":[329],"median":[334,339],"14.8":[336],"years,":[337],"dose":[342,351],"2.1":[344],"mcg/kg/day.":[345],"observed":[348,547],"that":[349],"established":[352],"year":[356],"treatment":[358,422,449,455,569],"adjusted":[361],"body":[363],"weight":[364],"maintained":[367],"indefinitely.":[368],"Adverse":[369],"effects":[370],"infrequent,":[372],"treatment,":[378],"although":[379],"development":[380],"osteopenia":[382],"remains":[383],"concern.":[385],"transiently":[391],"interrupted":[392],"resumed":[397],"because":[399],"recurrence":[401,429],"infections":[406],"fatigue.":[408],"currently":[411],"aware":[412],"only":[414],"two":[415],"discontinued":[420],"greater":[424],"months":[427],"without":[428,573],"returning":[433],"therapy.":[436],"this":[438,512],"population,":[439],"there":[440,514],"has":[441,544],"no":[443,453],"hematopoietic":[444],"stem":[445],"cell":[446],"transplantation":[447],"failures.":[456],"15":[457],"deaths":[458],"occurred:":[460],"1":[461],"ovarian":[463],"cancer,":[464],"related":[466],"discontinuation":[468],"G-CSF,":[470],"cardiac":[473],"causes,":[474],"3":[475],"homicide":[477],"accidents,":[479],"5":[480],"complicated":[482],"illnesses":[483],"multi-system":[485],"problems.":[486],"One":[487],"closely":[488],"patient":[490,499,528],"never":[491],"developed":[495,508],"CML":[496],"long":[501],"term":[502],"immunosuppressive":[504],"drugs":[505],"AML.":[509,579],"Other":[510],"case,":[513],"developing":[520],"AML":[521],"5000":[525],"observation.":[529],"Clostridial":[530],"sepsis,":[531],"frequent":[533],"cause":[534],"death":[536],"pre-G-CSF":[542],"era,":[543],"G-CSF.":[552],"These":[553],"long-term":[554],"observations":[555],"serve":[556],"characterize":[558],"distinctive":[563],"disorder,":[565],"responsive":[567],"recognized":[574],"risk":[575],"evolution":[577],"Disclosures:":[580],"Dale:":[581],"AMGEN:":[582],"Consultancy.":[583],"Boxer:Amgen:":[584],"Equity":[585],"Ownership.":[586]},"counts_by_year":[{"year":2024,"cited_by_count":1}],"updated_date":"2026-10-27T15:51:10.671819","created_date":"2017-02-03T00:00:00"}