{"id":"https://openalex.org/W2068022858","doi":"https://doi.org/10.1002/ajh.22253","title":"Leukocyte adhesion deficiency\u2010I variant syndrome (LAD\u2010Iv, LAD\u2010III): Molecular characterization of the defect in an index family","display_name":"Leukocyte adhesion deficiency\u2010I variant syndrome (LAD\u2010Iv, LAD\u2010III): Molecular characterization of the defect in an index family","publication_year":2011,"publication_date":"2011-11-08","ids":{"openalex":"https://openalex.org/W2068022858","doi":"https://doi.org/10.1002/ajh.22253","mag":"2068022858","pmid":"https://pubmed.ncbi.nlm.nih.gov/22139635","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3564639"},"language":"en","primary_location":{"id":"doi:10.1002/ajh.22253","doi":"https://doi.org/10.1002/ajh.22253","is_oa":true,"landing_page_url":"https://doi.org/10.1002/ajh.22253","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajh.22253","source":{"id":"https://openalex.org/S199810014","display_name":"American Journal of Hematology","issn_l":"0361-8609","issn":["0361-8609","1096-8652"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-140","russia-white-list-1"],"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":"American Journal of Hematology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajh.22253","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5110160436","display_name":"Estelle S. Harris","orcid":"https://orcid.org/0009-0006-1719-6187","observed_orcids":["https://orcid.org/0009-0006-1719-6187"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Estelle S. Harris","raw_affiliation_strings":["Department of Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA. estelle.harris@u2m2.utah.edu","Department of Medicine, University of Utah School of Medicine, Salt Lake City, Utah"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA. estelle.harris@u2m2.utah.edu","institution_ids":["https://openalex.org/I223532165"]},{"raw_affiliation_string":"Department of Medicine, University of Utah School of Medicine, Salt Lake City, Utah","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012109498","display_name":"Tammy Smith","orcid":"https://orcid.org/0000-0001-9828-2381","observed_orcids":["https://orcid.org/0000-0001-9828-2381"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tammy L. Smith","raw_affiliation_strings":["Department of Medicine, University of Utah School of Medicine, Salt Lake City, Utah","Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah","Program in Molecular Medicine, University of Utah School of Medicine, Salt Lake City, Utah"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, University of Utah School of Medicine, Salt Lake City, Utah","institution_ids":["https://openalex.org/I223532165"]},{"raw_affiliation_string":"Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah","institution_ids":["https://openalex.org/I223532165"]},{"raw_affiliation_string":"Program in Molecular Medicine, University of Utah School of Medicine, Salt Lake City, Utah","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047712976","display_name":"Gregory M. Springett","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3019308854","display_name":"Moffitt Cancer Center","ror":"https://ror.org/01xf75524","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I3019308854"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gregory M. Springett","raw_affiliation_strings":["Drug Discovery Program, Moffitt Cancer Center, Tampa, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Drug Discovery Program, Moffitt Cancer Center, Tampa, Florida","institution_ids":["https://openalex.org/I3019308854"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021523250","display_name":"Andrew S. Weyrich","orcid":"https://orcid.org/0000-0003-1654-6529","observed_orcids":["https://orcid.org/0000-0003-1654-6529"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew S. Weyrich","raw_affiliation_strings":["Department of Medicine, University of Utah School of Medicine, Salt Lake City, Utah","Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah","Program in Molecular Medicine, University of Utah School of Medicine, Salt Lake City, Utah"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, University of Utah School of Medicine, Salt Lake City, Utah","institution_ids":["https://openalex.org/I223532165"]},{"raw_affiliation_string":"Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah","institution_ids":["https://openalex.org/I223532165"]},{"raw_affiliation_string":"Program in Molecular Medicine, University of Utah School of Medicine, Salt Lake City, Utah","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5002690026","display_name":"Guy A. Zimmerman","orcid":"https://orcid.org/0000-0003-1731-7074","observed_orcids":["https://orcid.org/0000-0003-1731-7074"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Guy A. Zimmerman","raw_affiliation_strings":["Department of Medicine, University of Utah School of Medicine, Salt Lake City, Utah"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, University of Utah School of Medicine, Salt Lake City, Utah","institution_ids":["https://openalex.org/I223532165"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5002690026","https://openalex.org/A5110160436"],"corresponding_institution_ids":["https://openalex.org/I223532165"],"apc_list":{"value":5450,"currency":"USD","value_usd":5450},"apc_paid":null,"fwci":2.0552,"has_fulltext":true,"cited_by_count":25,"citation_normalized_percentile":{"value":0.85090413,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"87","issue":"3","first_page":"311","last_page":"313"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10831","display_name":"Cell Adhesion Molecules Research","score":0.5576000213623047,"subfield":{"id":"https://openalex.org/subfields/2723","display_name":"Immunology and Allergy"},"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/T10831","display_name":"Cell Adhesion Molecules Research","score":0.5576000213623047,"subfield":{"id":"https://openalex.org/subfields/2723","display_name":"Immunology and Allergy"},"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":0.44119998812675476,"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/T10746","display_name":"Platelet Disorders and Treatments","score":0.0003000000142492354,"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/fermt3","display_name":"FERMT3","score":0.953000009059906},{"id":"https://openalex.org/keywords/kindlin-3","display_name":"kindlin-3","score":0.9819999933242798},{"id":"https://openalex.org/keywords/integrin-signaling","display_name":"integrin signaling","score":0.7310000061988831},{"id":"https://openalex.org/keywords/inside-out-signaling","display_name":"inside-out signaling","score":0.8650000095367432},{"id":"https://openalex.org/keywords/beta1-integrin","display_name":"beta1 integrin","score":0.7490000128746033},{"id":"https://openalex.org/keywords/beta2-integrins","display_name":"beta2 integrins","score":0.9750000238418579},{"id":"https://openalex.org/keywords/integrin-beta3","display_name":"CD61","score":0.9950000047683716},{"id":"https://openalex.org/keywords/leukocyte-adhesion","display_name":"leukocyte adhesion","score":0.9259999990463257},{"id":"https://openalex.org/keywords/platelet-adhesion","display_name":"platelet adhesion","score":0.8190000057220459},{"id":"https://openalex.org/keywords/recurrent-infections","display_name":"recurrent infections","score":0.5479999780654907},{"id":"https://openalex.org/keywords/hemorrhage","display_name":"hemorrhage","score":0.8019999861717224},{"id":"https://openalex.org/keywords/inherited-immunodeficiency","display_name":"inherited immunodeficiency","score":0.621999979019165},{"id":"https://openalex.org/keywords/family-studies","display_name":"family studies","score":0.3619999885559082}],"concepts":[{"id":"https://openalex.org/C2776342803","wikidata":"https://www.wikidata.org/wiki/Q1154422","display_name":"Leukocyte adhesion deficiency","level":5,"score":0.7199912071228027},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.54085373878479},{"id":"https://openalex.org/C84416704","wikidata":"https://www.wikidata.org/wiki/Q188666","display_name":"Adhesion","level":2,"score":0.4331415891647339},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.39095714688301086},{"id":"https://openalex.org/C195687474","wikidata":"https://www.wikidata.org/wiki/Q409715","display_name":"Integrin","level":3,"score":0.16826418042182922},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.12758636474609375},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0},{"id":"https://openalex.org/C53122370","wikidata":"https://www.wikidata.org/wiki/Q2458503","display_name":"CD18","level":4,"score":0.0},{"id":"https://openalex.org/C178790620","wikidata":"https://www.wikidata.org/wiki/Q11351","display_name":"Organic chemistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D002448","descriptor_name":"Cell Adhesion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002461","descriptor_name":"Cell Line, Transformed","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006474","descriptor_name":"Hemorrhagic Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006529","descriptor_name":"Hepatomegaly","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007239","descriptor_name":"Infections","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D007962","descriptor_name":"Leukocytes","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009363","descriptor_name":"Neoplasm Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012008","descriptor_name":"Recurrence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013163","descriptor_name":"Splenomegaly","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016026","descriptor_name":"Bone Marrow Transplantation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018370","descriptor_name":"Leukocyte-Adhesion Deficiency Syndrome","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D018370","descriptor_name":"Leukocyte-Adhesion Deficiency Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018370","descriptor_name":"Leukocyte-Adhesion Deficiency Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D018370","descriptor_name":"Leukocyte-Adhesion Deficiency Syndrome","qualifier_ui":"Q000601","qualifier_name":"surgery","is_major_topic":false},{"descriptor_ui":"D018821","descriptor_name":"CD18 Antigens","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D019012","descriptor_name":"Integrin beta1","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1002/ajh.22253","doi":"https://doi.org/10.1002/ajh.22253","is_oa":true,"landing_page_url":"https://doi.org/10.1002/ajh.22253","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajh.22253","source":{"id":"https://openalex.org/S199810014","display_name":"American Journal of Hematology","issn_l":"0361-8609","issn":["0361-8609","1096-8652"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-140","russia-white-list-1"],"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":"American Journal of Hematology","raw_type":"journal-article"},{"id":"pmid:22139635","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22139635","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":"American journal of hematology","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:2566197","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3564639","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3564639","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3564639","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Am J Hematol","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1002/ajh.22253","doi":"https://doi.org/10.1002/ajh.22253","is_oa":true,"landing_page_url":"https://doi.org/10.1002/ajh.22253","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajh.22253","source":{"id":"https://openalex.org/S199810014","display_name":"American Journal of Hematology","issn_l":"0361-8609","issn":["0361-8609","1096-8652"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-140","russia-white-list-1"],"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":"American Journal of Hematology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G2340743535","display_name":"Translational Events in Platelets","funder_award_id":"R01HL066277","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G2579975978","display_name":"Molecular Interactions of Myeloid Cells with Endothelium","funder_award_id":"R37HL044525","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G7135691574","display_name":"Research Training in Hematology","funder_award_id":"T32DK007115","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320310050","display_name":"University of Utah","ror":"https://ror.org/03r0ha626"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"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":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2068022858.pdf","grobid_xml":"https://content.openalex.org/works/W2068022858.grobid-xml"},"referenced_works_count":29,"referenced_works":["https://openalex.org/W1536043153","https://openalex.org/W1596310620","https://openalex.org/W1967111434","https://openalex.org/W1974058127","https://openalex.org/W1977907595","https://openalex.org/W1982330320","https://openalex.org/W1994331544","https://openalex.org/W1997007146","https://openalex.org/W1998539678","https://openalex.org/W2010637708","https://openalex.org/W2015003466","https://openalex.org/W2021076495","https://openalex.org/W2026569377","https://openalex.org/W2031923068","https://openalex.org/W2042371636","https://openalex.org/W2053087881","https://openalex.org/W2058624823","https://openalex.org/W2072478343","https://openalex.org/W2074075656","https://openalex.org/W2082131133","https://openalex.org/W2085281184","https://openalex.org/W2090659127","https://openalex.org/W2098313671","https://openalex.org/W2100824657","https://openalex.org/W2119466066","https://openalex.org/W2136641692","https://openalex.org/W2160778473","https://openalex.org/W2165145759","https://openalex.org/W4241613470"],"related_works":["https://openalex.org/W2160261153","https://openalex.org/W1999597030","https://openalex.org/W7100188897","https://openalex.org/W2106262022","https://openalex.org/W2555528578","https://openalex.org/W4387826922","https://openalex.org/W4318168231","https://openalex.org/W2119466066","https://openalex.org/W2021076495","https://openalex.org/W1974058127"],"abstract_inverted_index":{"Leukocyte":[0,22],"adhesion":[1,23],"deficiencies":[2,76],"are":[3],"rare":[4],"clinical":[5,134],"syndromes":[6],"of":[7,17,39,80,114,128,148,176],"impaired":[8,53],"host":[9],"defense":[10],"that":[11,87,108,152,183,190],"provide":[12],"novel":[13],"insights":[14],"into":[15],"regulation":[16],"immune":[18],"and":[19,42,47,58,72,77,117,120,125,136],"inflammatory":[20],"responses.":[21],"deficiency":[24],"(LAD)-I":[25],"variant":[26],"(LAD-Iv),":[27],"also":[28,132],"called":[29],"LAD-III,":[30],"is":[31,49,95,121],"a":[32,96,105,143,146],"unique":[33],"disorder":[34,68],"in":[35,91,99,140,162,174],"which":[36,102],"inside-out":[37,124],"signaling":[38,127],"\u03b2\u2081,":[40,115],"\u03b2\u2082,":[41,116],"\u03b2\u2083":[43,118],"integrins":[44,119],"on":[45],"leukocytes":[46],"platelets":[48],"disrupted,":[50],"leading":[51],"to":[52,69,168],"cellular":[54],"adhesion,":[55],"recurrent":[56],"infections,":[57],"bleeding.":[59],"We":[60,131],"originally":[61],"reported":[62],"the":[63,74,88,111,149,157,170,177,188],"second":[64],"patient":[65],"with":[66,110],"this":[67,81,92,185],"be":[70,169],"identified":[71],"characterized":[73],"adhesive":[75],"functional":[78],"phenotype":[79],"subject's":[82],"leukocytes.":[83],"Here,":[84],"we":[85,153,191],"show":[86],"molecular":[89],"defect":[90],"index":[93],"subject":[94,151],"new":[97,144],"mutation":[98],"FERMT3":[100,159,163],"(KINDLIN-3)":[101],"encodes":[103],"KINDLIN-3,":[104],"cytoskeletal":[106],"protein":[107],"interacts":[109],"cytoplasmic":[112],"tails":[113],"required":[122],"for":[123,172],"outside-in":[126],"these":[129],"heterodimers.":[130],"report":[133],"features":[135],"previously":[137],"unrecognized":[138],"defects":[139],"cells":[141],"from":[142],"patient,":[145],"sibling":[147],"original":[150,179],"described":[154],"who":[155],"carries":[156],"same":[158],"mutation.":[160],"Mutations":[161],"have":[164],"now":[165],"been":[166],"shown":[167],"basis":[171],"LAD-Iv/LAD-III":[173],"each":[175],"four":[178],"patients":[180],"or":[181],"families":[182],"established":[184],"syndrome,":[186],"including":[187],"family":[189],"describe.":[192]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}