{"id":"https://openalex.org/W1990817138","doi":"https://doi.org/10.1002/pbc.22676","title":"Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4)","display_name":"Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4)","publication_year":2010,"publication_date":"2010-12-27","ids":{"openalex":"https://openalex.org/W1990817138","doi":"https://doi.org/10.1002/pbc.22676","mag":"1990817138","pmid":"https://pubmed.ncbi.nlm.nih.gov/21298754"},"language":"en","primary_location":{"id":"doi:10.1002/pbc.22676","doi":"https://doi.org/10.1002/pbc.22676","is_oa":false,"landing_page_url":"https://doi.org/10.1002/pbc.22676","pdf_url":null,"source":{"id":"https://openalex.org/S119714264","display_name":"Pediatric Blood & Cancer","issn_l":"1545-5009","issn":["1545-5009","1545-5017"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","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/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Blood & Cancer","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/A5038780293","display_name":"Christine A. Macartney","orcid":"https://orcid.org/0000-0001-6868-710X","observed_orcids":["https://orcid.org/0000-0001-6868-710X"]},"institutions":[{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Christine A. Macartney","raw_affiliation_strings":["The Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110530922","display_name":"Sheila S Weitzman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Sheila Weitzman","raw_affiliation_strings":["The Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013012895","display_name":"Stephanie M. Wood","orcid":"https://orcid.org/0000-0003-4224-759X","observed_orcids":["https://orcid.org/0000-0003-4224-759X"]},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Stephanie M. Wood","raw_affiliation_strings":["Center for Infectious Medicine, Department of Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Infectious Medicine, Department of Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835","https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009698912","display_name":"Deepak Bansal","orcid":"https://orcid.org/0000-0002-1009-7649","observed_orcids":["https://orcid.org/0000-0002-1009-7649","https://orcid.org/0009-0008-7530-2309"]},"institutions":[{"id":"https://openalex.org/I2802127220","display_name":"Alberta Children's Hospital","ror":"https://ror.org/00sx29x36","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2802127220"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Deepak Bansal","raw_affiliation_strings":["Division of Pediatric Hematology, Alberta Children's Hospital, Calgary, Alberta, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Hematology, Alberta Children's Hospital, Calgary, Alberta, Canada","institution_ids":["https://openalex.org/I2802127220"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004295731","display_name":"MacGregor Steele","orcid":"https://orcid.org/0000-0001-6864-0598","observed_orcids":["https://orcid.org/0000-0001-6864-0598"]},"institutions":[{"id":"https://openalex.org/I2802127220","display_name":"Alberta Children's Hospital","ror":"https://ror.org/00sx29x36","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2802127220"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"MacGregor Steele","raw_affiliation_strings":["Division of Pediatric Hematology, Alberta Children's Hospital, Calgary, Alberta, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Hematology, Alberta Children's Hospital, Calgary, Alberta, Canada","institution_ids":["https://openalex.org/I2802127220"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000083974","display_name":"Marie Meeths","orcid":"https://orcid.org/0009-0002-3280-046X","observed_orcids":["https://orcid.org/0009-0002-3280-046X"]},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Marie Meeths","raw_affiliation_strings":["Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835","https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069537382","display_name":"Mohamed M. Abdelhaleem","orcid":"https://orcid.org/0000-0001-6595-6351","observed_orcids":["https://orcid.org/0000-0001-6595-6351"]},"institutions":[{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Mohamed Abdelhaleem","raw_affiliation_strings":["Division of Hematopathology, Hospital for Sick Children, Toronto, Ontario, Canada","Shared Senior Authorship"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Hematopathology, Hospital for Sick Children, Toronto, Ontario, Canada","institution_ids":["https://openalex.org/I2801317318"]},{"raw_affiliation_string":"Shared Senior Authorship","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5015561854","display_name":"Yenan T. Bryceson","orcid":"https://orcid.org/0000-0002-7783-9934","observed_orcids":["https://orcid.org/0000-0002-7783-9934"]},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":true,"raw_author_name":"Yenan T. Bryceson","raw_affiliation_strings":["Center for Infectious Medicine, Department of Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden","Shared Senior Authorship"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Infectious Medicine, Department of Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835","https://openalex.org/I28166907"]},{"raw_affiliation_string":"Shared Senior Authorship","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5015561854"],"corresponding_institution_ids":["https://openalex.org/I1335113835","https://openalex.org/I28166907"],"apc_list":{"value":4640,"currency":"USD","value_usd":4640},"apc_paid":null,"fwci":1.1769,"has_fulltext":false,"cited_by_count":21,"citation_normalized_percentile":{"value":0.79755547,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"56","issue":"4","first_page":"654","last_page":"657"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11616","display_name":"Autoimmune and Inflammatory Disorders Research","score":0.9922000169754028,"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/T11616","display_name":"Autoimmune and Inflammatory Disorders Research","score":0.9922000169754028,"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":0.005900000222027302,"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/T11020","display_name":"Immune Cell Function and Interaction","score":0.0003000000142492354,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/syntaxin-11","display_name":"STX11","score":0.9860000014305115},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.9929999709129333},{"id":"https://openalex.org/keywords/nk-cell-degranulation","display_name":"NK cell degranulation","score":0.875},{"id":"https://openalex.org/keywords/nk-cell-cytotoxicity","display_name":"NK cell cytotoxicity","score":0.9980000257492065},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.8080000281333923},{"id":"https://openalex.org/keywords/infants","display_name":"infants","score":0.43799999356269836},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.3610000014305115}],"concepts":[{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.8826891183853149},{"id":"https://openalex.org/C2779079688","wikidata":"https://www.wikidata.org/wiki/Q1642170","display_name":"Hemophagocytic lymphohistiocytosis","level":3,"score":0.8212921023368835},{"id":"https://openalex.org/C49802076","wikidata":"https://www.wikidata.org/wiki/Q5251810","display_name":"Degranulation","level":3,"score":0.7715300917625427},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7111594676971436},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.5820069313049316},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.4758186936378479},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4745122790336609},{"id":"https://openalex.org/C109316439","wikidata":"https://www.wikidata.org/wiki/Q246181","display_name":"Cytotoxicity","level":3,"score":0.41961216926574707},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.28971561789512634},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.25571829080581665},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2340228259563446},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.19382718205451965},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.10567095875740051},{"id":"https://openalex.org/C202751555","wikidata":"https://www.wikidata.org/wiki/Q221681","display_name":"In vitro","level":2,"score":0.0879049301147461},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D003602","descriptor_name":"Cytotoxicity, Immunologic","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":"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":"D007694","descriptor_name":"Killer Cells, Natural","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D007694","descriptor_name":"Killer Cells, Natural","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D015550","descriptor_name":"Cell Degranulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016368","descriptor_name":"Frameshift Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D050765","descriptor_name":"Qa-SNARE Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051359","descriptor_name":"Lymphohistiocytosis, Hemophagocytic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/pbc.22676","doi":"https://doi.org/10.1002/pbc.22676","is_oa":false,"landing_page_url":"https://doi.org/10.1002/pbc.22676","pdf_url":null,"source":{"id":"https://openalex.org/S119714264","display_name":"Pediatric Blood & Cancer","issn_l":"1545-5009","issn":["1545-5009","1545-5017"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","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/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Blood & Cancer","raw_type":"journal-article"},{"id":"pmid:21298754","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21298754","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":"Pediatric blood & cancer","raw_type":"Case Reports"}],"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":[{"id":"https://openalex.org/F4320322128","display_name":"Svenska S\u00e4llskapet f\u00f6r Medicinsk Forskning","ror":"https://ror.org/0433fd238"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":20,"referenced_works":["https://openalex.org/W1984427686","https://openalex.org/W1986344524","https://openalex.org/W1987138872","https://openalex.org/W1987447755","https://openalex.org/W2029858738","https://openalex.org/W2040628293","https://openalex.org/W2047164801","https://openalex.org/W2069610073","https://openalex.org/W2087845296","https://openalex.org/W2095795084","https://openalex.org/W2096352497","https://openalex.org/W2115347905","https://openalex.org/W2122970793","https://openalex.org/W2137809238","https://openalex.org/W2149832954","https://openalex.org/W2162251899","https://openalex.org/W2171190856","https://openalex.org/W2171678723","https://openalex.org/W2473567183","https://openalex.org/W4251454972"],"related_works":["https://openalex.org/W2061776771","https://openalex.org/W1986344524","https://openalex.org/W2989788263","https://openalex.org/W2135608145","https://openalex.org/W1987447755","https://openalex.org/W2036193637","https://openalex.org/W2163365124","https://openalex.org/W2137809238","https://openalex.org/W2028605650","https://openalex.org/W2292888640"],"abstract_inverted_index":{"Familial":[0],"hemophagocytic":[1],"lymphohistiocytosis":[2],"(FHL)":[3],"is":[4,97],"typically":[5],"an":[6],"autosomal":[7],"recessive,":[8],"early-onset,":[9],"life-threatening":[10],"immune":[11],"disorder.":[12],"Loss-of-function":[13],"mutations":[14],"in":[15,88],"STX11":[16,44,84],"have":[17],"been":[18],"found":[19],"to":[20],"impair":[21],"NK":[22,58,70,94],"cell":[23,95],"degranulation":[24,56,96],"and":[25,39,74],"cytotoxicity.":[26],"Here,":[27],"we":[28],"describe":[29],"two":[30],"unrelated":[31],"infants":[32],"of":[33,53,62],"Punjabi":[34],"descent":[35],"presenting":[36],"with":[37],"FHL":[38],"carrying":[40],"a":[41],"novel,":[42],"homozygous":[43],"frameshift":[45],"mutation":[46],"[c.867dupG].":[47],"Western":[48],"blot":[49],"analysis":[50],"indicated":[51],"absence":[52],"syntaxin-11.":[54],"Unexpectedly,":[55],"by":[57],"cells":[59,71],"from":[60],"one":[61],"the":[63],"patients":[64,90],"was":[65],"not":[66,98],"impaired,":[67],"although":[68],"patient":[69],"showed":[72],"mildly":[73],"significantly":[75],"decreased":[76],"cytotoxicity,":[77],"respectively.":[78],"Importantly,":[79],"these":[80],"observations":[81],"imply":[82],"that":[83],"should":[85],"be":[86],"sequenced":[87],"HLH":[89],"even":[91],"when":[92],"impaired":[93],"found.":[99]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":3},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}