{"id":"https://openalex.org/W1882665402","doi":null,"title":"FUNCTIONAL ASSAYS FOR THE DIAGNOSIS OF PRIMARY DEFECTS IN LYMPHOCYTE CYTOTOXICITY","display_name":"FUNCTIONAL ASSAYS FOR THE DIAGNOSIS OF PRIMARY DEFECTS IN LYMPHOCYTE CYTOTOXICITY","publication_year":2015,"publication_date":"2015-11-02","ids":{"openalex":"https://openalex.org/W1882665402","mag":"1882665402"},"language":"en","primary_location":{"id":"pmh:oai:figshare.com:article/26921776","doi":null,"is_oa":false,"landing_page_url":"https://figshare.com/articles/thesis/Functional_assays_for_the_diagnosis_of_primary_defects_in_lymphocyte_cytotoxicity/26921776","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Thesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://hdl.handle.net/10616/44904","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5012091319","display_name":"Samuel C. C. Chiang","orcid":"https://orcid.org/0000-0001-6597-6117","observed_orcids":["https://orcid.org/0000-0001-6597-6117"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Samuel C. C. Chiang","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-6597-6117","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5012091319"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11616","display_name":"Autoimmune and Inflammatory Disorders Research","score":0.448199987411499,"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":0.448199987411499,"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":0.4293999969959259,"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":0.10649999976158142,"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/hemophagocytic-lymphohistiocytosis","display_name":"hemophagocytic lymphohistiocytosis","score":0.984000027179718},{"id":"https://openalex.org/keywords/primary-immunodeficiency","display_name":"primary immunodeficiency","score":0.6639999747276306},{"id":"https://openalex.org/keywords/nk-cell-degranulation","display_name":"NK cell degranulation","score":0.8730000257492065},{"id":"https://openalex.org/keywords/lamp1","display_name":"LAMP1","score":0.9409999847412109},{"id":"https://openalex.org/keywords/cytotoxic-t-lymphocytes","display_name":"cytotoxic T lymphocytes","score":0.8550000190734863},{"id":"https://openalex.org/keywords/unc13d","display_name":"UNC13D","score":0.8659999966621399},{"id":"https://openalex.org/keywords/orai1","display_name":"Orai1","score":0.9869999885559082},{"id":"https://openalex.org/keywords/stromal-interaction-molecule-1","display_name":"STIM1","score":1.0},{"id":"https://openalex.org/keywords/store-operated-calcium-entry","display_name":"store-operated calcium entry","score":0.996999979019165},{"id":"https://openalex.org/keywords/cd57","display_name":"CD57","score":0.9629999995231628},{"id":"https://openalex.org/keywords/t-cell-mediated-cytotoxicity","display_name":"T cell cytotoxicity","score":0.5540000200271606},{"id":"https://openalex.org/keywords/nk-cell-cytotoxicity","display_name":"NK cell cytotoxicity","score":0.4620000123977661},{"id":"https://openalex.org/keywords/diagnostic-assay","display_name":"diagnostic assay","score":0.37599998712539673},{"id":"https://openalex.org/keywords/functional-assays","display_name":"functional assays","score":0.4000000059604645},{"id":"https://openalex.org/keywords/pro-inflammatory-cytokines","display_name":"inflammatory cytokines","score":0.6100000143051147}],"concepts":[{"id":"https://openalex.org/C109316439","wikidata":"https://www.wikidata.org/wiki/Q246181","display_name":"Cytotoxicity","level":3,"score":0.8401983976364136},{"id":"https://openalex.org/C2777977315","wikidata":"https://www.wikidata.org/wiki/Q7243056","display_name":"Primary (astronomy)","level":2,"score":0.6195128560066223},{"id":"https://openalex.org/C2777761686","wikidata":"https://www.wikidata.org/wiki/Q715347","display_name":"Lymphocyte","level":2,"score":0.590712308883667},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.41132238507270813},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.3967287540435791},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3653571903705597},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.34040746092796326},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.18914592266082764},{"id":"https://openalex.org/C202751555","wikidata":"https://www.wikidata.org/wiki/Q221681","display_name":"In vitro","level":2,"score":0.09467723965644836},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.06639638543128967},{"id":"https://openalex.org/C1276947","wikidata":"https://www.wikidata.org/wiki/Q333","display_name":"Astronomy","level":1,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:figshare.com:article/26921776","doi":null,"is_oa":false,"landing_page_url":"https://figshare.com/articles/thesis/Functional_assays_for_the_diagnosis_of_primary_defects_in_lymphocyte_cytotoxicity/26921776","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Thesis"},{"id":"pmh:oai:openarchive.ki.se:10616/44904","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10616/44904","pdf_url":null,"source":{"id":"https://openalex.org/S4306400147","display_name":"Open Archive (Karolinska Institutet)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I28166907","host_organization_name":"Karolinska Institutet","host_organization_lineage":["https://openalex.org/I28166907"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/doctoralThesis"},{"id":"mag:1882665402","doi":null,"is_oa":false,"landing_page_url":"https://openarchive.ki.se/xmlui/bitstream/handle/10616/44904/Thesis_Samuel_CC_Chiang.pdf;sequence=3","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:openarchive.ki.se:10616/44904","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10616/44904","pdf_url":null,"source":{"id":"https://openalex.org/S4306400147","display_name":"Open Archive (Karolinska Institutet)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I28166907","host_organization_name":"Karolinska Institutet","host_organization_lineage":["https://openalex.org/I28166907"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/doctoralThesis"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9763000011444092}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":218,"referenced_works":["https://openalex.org/W76276930","https://openalex.org/W170573079","https://openalex.org/W246101146","https://openalex.org/W298983351","https://openalex.org/W309535213","https://openalex.org/W328083015","https://openalex.org/W341649791","https://openalex.org/W1199407683","https://openalex.org/W1487843912","https://openalex.org/W1489286522","https://openalex.org/W1492798098","https://openalex.org/W1494681869","https://openalex.org/W1499084798","https://openalex.org/W1502117278","https://openalex.org/W1502651188","https://openalex.org/W1506590496","https://openalex.org/W1516464304","https://openalex.org/W1524930058","https://openalex.org/W1530342027","https://openalex.org/W1533385423","https://openalex.org/W1538826344","https://openalex.org/W1545214588","https://openalex.org/W1546149699","https://openalex.org/W1554199623","https://openalex.org/W1558813989","https://openalex.org/W1561117001","https://openalex.org/W1572554526","https://openalex.org/W1573131518","https://openalex.org/W1577746698","https://openalex.org/W1592969536","https://openalex.org/W1599359163","https://openalex.org/W1602679758","https://openalex.org/W1607348270","https://openalex.org/W1757602653","https://openalex.org/W1791103558","https://openalex.org/W1799846053","https://openalex.org/W1825962579","https://openalex.org/W1840475761","https://openalex.org/W1855021736","https://openalex.org/W1864661541","https://openalex.org/W1878895776","https://openalex.org/W1890645185","https://openalex.org/W1901045089","https://openalex.org/W1905075497","https://openalex.org/W1907149961","https://openalex.org/W1922244938","https://openalex.org/W1948155768","https://openalex.org/W1965557074","https://openalex.org/W1967093865","https://openalex.org/W1967684158","https://openalex.org/W1968002356","https://openalex.org/W1968458910","https://openalex.org/W1969511902","https://openalex.org/W1970591872","https://openalex.org/W1973562333","https://openalex.org/W1973700392","https://openalex.org/W1977108482","https://openalex.org/W1977226109","https://openalex.org/W1979132095","https://openalex.org/W1982306166","https://openalex.org/W1982971190","https://openalex.org/W1983067071","https://openalex.org/W1983842560","https://openalex.org/W1983907181","https://openalex.org/W1983921334","https://openalex.org/W1986312960","https://openalex.org/W1986344524","https://openalex.org/W1986696487","https://openalex.org/W1987303272","https://openalex.org/W1988042498","https://openalex.org/W1988382766","https://openalex.org/W1988700088","https://openalex.org/W1988772008","https://openalex.org/W1988993642","https://openalex.org/W1990817138","https://openalex.org/W1991221443","https://openalex.org/W1992182346","https://openalex.org/W1992420760","https://openalex.org/W1994969460","https://openalex.org/W1997296950","https://openalex.org/W1999234197","https://openalex.org/W1999782096","https://openalex.org/W2000454164","https://openalex.org/W2000607281","https://openalex.org/W2001587871","https://openalex.org/W2001705316","https://openalex.org/W2001743614","https://openalex.org/W2002584520","https://openalex.org/W2003202212","https://openalex.org/W2003552800","https://openalex.org/W2005709070","https://openalex.org/W2005765588","https://openalex.org/W2006657887","https://openalex.org/W2010979801","https://openalex.org/W2012056055","https://openalex.org/W2013522127","https://openalex.org/W2013634911","https://openalex.org/W2013944173","https://openalex.org/W2015828718","https://openalex.org/W2016033094","https://openalex.org/W2016524406","https://openalex.org/W2019813857","https://openalex.org/W2022069273","https://openalex.org/W2022328879","https://openalex.org/W2022874065","https://openalex.org/W2023044372","https://openalex.org/W2023173459","https://openalex.org/W2024183493","https://openalex.org/W2024769017","https://openalex.org/W2024840191","https://openalex.org/W2027160253","https://openalex.org/W2027589717","https://openalex.org/W2029776825","https://openalex.org/W2030540990","https://openalex.org/W2031261181","https://openalex.org/W2033107431","https://openalex.org/W2036855076","https://openalex.org/W2037469410","https://openalex.org/W2037904365","https://openalex.org/W2038049117","https://openalex.org/W2038762894","https://openalex.org/W2040606185","https://openalex.org/W2040628293","https://openalex.org/W2041842284","https://openalex.org/W2042943663","https://openalex.org/W2043102997","https://openalex.org/W2043178618","https://openalex.org/W2044031348","https://openalex.org/W2044294247","https://openalex.org/W2045870813","https://openalex.org/W2045887113","https://openalex.org/W2046474981","https://openalex.org/W2046813237","https://openalex.org/W2047164801","https://openalex.org/W2047823796","https://openalex.org/W2048743657","https://openalex.org/W2049255028","https://openalex.org/W2050575553","https://openalex.org/W2054247098","https://openalex.org/W2057936936","https://openalex.org/W2058658949","https://openalex.org/W2063048890","https://openalex.org/W2068406703","https://openalex.org/W2069007188","https://openalex.org/W2070576387","https://openalex.org/W2071077438","https://openalex.org/W2072277955","https://openalex.org/W2075045888","https://openalex.org/W2077322206","https://openalex.org/W2078849705","https://openalex.org/W2079130077","https://openalex.org/W2079923162","https://openalex.org/W2081669045","https://openalex.org/W2086689655","https://openalex.org/W2088068650","https://openalex.org/W2088513299","https://openalex.org/W2089514406","https://openalex.org/W2093268337","https://openalex.org/W2093575565","https://openalex.org/W2094382467","https://openalex.org/W2095795084","https://openalex.org/W2096352497","https://openalex.org/W2097643791","https://openalex.org/W2101097180","https://openalex.org/W2106054874","https://openalex.org/W2108211053","https://openalex.org/W2110877773","https://openalex.org/W2116171543","https://openalex.org/W2117776341","https://openalex.org/W2118166524","https://openalex.org/W2118195839","https://openalex.org/W2119475852","https://openalex.org/W2120380892","https://openalex.org/W2122970793","https://openalex.org/W2124930517","https://openalex.org/W2125688149","https://openalex.org/W2131200545","https://openalex.org/W2132661020","https://openalex.org/W2133819747","https://openalex.org/W2134438797","https://openalex.org/W2136281115","https://openalex.org/W2137809238","https://openalex.org/W2138205867","https://openalex.org/W2141033917","https://openalex.org/W2142722822","https://openalex.org/W2143729842","https://openalex.org/W2144510654","https://openalex.org/W2145444835","https://openalex.org/W2146313292","https://openalex.org/W2146814362","https://openalex.org/W2146908273","https://openalex.org/W2148175548","https://openalex.org/W2152599867","https://openalex.org/W2155477306","https://openalex.org/W2157269038","https://openalex.org/W2158469499","https://openalex.org/W2158929184","https://openalex.org/W2161625385","https://openalex.org/W2162251899","https://openalex.org/W2162777258","https://openalex.org/W2163789582","https://openalex.org/W2164344962","https://openalex.org/W2164721732","https://openalex.org/W2165903695","https://openalex.org/W2166547308","https://openalex.org/W2171678723","https://openalex.org/W2173174278","https://openalex.org/W2177607125","https://openalex.org/W2183142442","https://openalex.org/W2188969807","https://openalex.org/W2214815245","https://openalex.org/W2230720026","https://openalex.org/W2283532895","https://openalex.org/W2328451611","https://openalex.org/W2332340631","https://openalex.org/W2408847959","https://openalex.org/W2416900138","https://openalex.org/W2441371698"],"related_works":["https://openalex.org/W4400287310","https://openalex.org/W6948546839","https://openalex.org/W3023366480","https://openalex.org/W2066492659","https://openalex.org/W4400056717","https://openalex.org/W2431701899","https://openalex.org/W2052632028","https://openalex.org/W2115347905","https://openalex.org/W2557787029","https://openalex.org/W2972635260"],"abstract_inverted_index":{"Cytotoxic":[0],"lymphocytes":[1,10],"encompass":[2],"natural":[3,806],"killer":[4,807],"(NK)":[5],"cells":[6,13,90,280,361],"and":[7,15,118,154,167,194,227,264,277,356,387,444,447,460,481,491,499,512,528,534,541,613,632,682,693,721,742,782,805,865],"cytotoxic":[8,43,99,109,297,341,478,739,803,887],"T":[9,234,318,342,349,367,414,436,461,876],"(CTL).":[11],"These":[12,496],"detect":[14],"kill":[16,359],"virus-infected":[17],"as":[18,20,49,51,73,189,216],"well":[19,50],"malignant":[21],"cells.":[22],"Primary":[23,301],"defects":[24,885],"in":[25,46,88,144,178,187,204,223,233,321,381,455,476,530,566,634,697,820,886],"lymphocyte":[26,44,149,298,479,740,888],"cytotoxicity":[27,150,261],"are":[28],"associated":[29],"with":[30,130,151,440],"development":[31],"of":[32,54,97,126,174,192,221,241,247,347,473,487,519,524,539,563,570,726,786,790,800,874,883],"a":[33,84,113,120,141,190,205,211,348,431,452,509],"hyperinflammatory":[34],"syndrome":[35],"termed":[36],"hemophagocytic":[37,572,622],"lymphohistiocytosis":[38,623,700],"(HLH).":[39],"This":[40,468],"thesis":[41,469],"investigates":[42],"function":[45],"HLH":[47,128,193,222,302,494],"cases":[48],"the":[52,77,94,105,124,172,217,245,330,400,411,471,492,504,567,787,875,881],"creation":[53],"new":[55],"assays":[56,177,310,463,475,501,565],"to":[57,68,76,147,316,337,371,377,427,442,506],"improve":[58],"diagnostics.":[59],"An":[60],"NK":[61,70,135,164,259,279,307,373,388,404,458,525],"cell":[62,71,106,136,165,260,273,308,319,350,368,389,405,415,437,459,462,526,744,808,877],"degranulation":[63,132,137,168,196,380,406,416,564,741,878],"assay":[64,407,417,438,466,879],"has":[65,391],"been":[66,314],"developed":[67,413],"quantify":[69],"responses":[72,320,809],"an":[74],"alternative":[75],"radioactive":[78],"chromium":[79],"release":[80],"assay.":[81],"CD107a":[82],"is":[83,91,102,237,293,735],"transmembrane":[85],"protein":[86],"that":[87,289,352],"unstimulated":[89],"contained":[92],"within":[93],"inner":[95],"membrane":[96],"perforin-containing":[98],"granules":[100],"but":[101,311,818],"exposed":[103],"on":[104,306],"surface":[107,331],"upon":[108,271,362],"granule":[110,816],"exocytosis.":[111,889],"In":[112,254,324,395],"pan-European":[114],"effort,":[115],"we":[116,182,257,327,398],"established":[117,401],"validated":[119],"consensus":[121],"protocol":[122],"for":[123,163,239,295,450,737,814,880],"diagnosis":[125,569,882],"primary":[127,142,179,423,453,493,801,884],"patients":[129,425],"defective":[131,148,195,379],"(Paper":[133,169,197,408,418],"II).":[134],"below":[138],"5%":[139],"predicted":[140],"defect":[143,454],"exocytosis":[145,390,817],"leading":[146],"96%":[152],"sensitivity":[153,443],"88%":[155],"specificity.":[156,467],"We":[157],"also":[158],"provided":[159],"further":[160,464],"optimized":[161],"protocols":[162],"phenotyping":[166],"I).":[170],"Highlighting":[171],"importance":[173],"reliable":[175],"functional":[176,309,474],"immunodeficiency":[180,424],"discovery,":[181],"described":[183,328],"novel":[184],"non-coding":[185],"aberrations":[186],"UNC13D":[188,695],"cause":[191,220],"III,":[198],"IV).":[199],"Point":[200],"mutations":[201,696],"were":[202],"found":[203,376],"highly":[206],"conserved":[207],"intronic":[208,630,692],"region,":[209],"while":[210],"253kb":[212],"inversion":[213,633],"was":[214,251,375],"identified":[215],"most":[218],"frequent":[219],"Swedish":[224],"infants.":[225],"ORAI1":[226,263,276],"STIM1":[228],"mediate":[229],"store-operated":[230,248],"Ca2+":[231,249,269,291],"entry":[232,250,270,292],"cells,":[235,374],"which":[236],"required":[238,294,736],"induction":[240],"cytokine":[242,821],"expression.":[243],"However,":[244],"role":[246,490],"not":[252,282],"clear.":[253],"Paper":[255,325],"V,":[256],"studied":[258],"using":[262],"STIM1-deficient":[265,278],"patients,":[266],"confirming":[267],"abrogated":[268],"target":[272,360,743],"stimulation.":[274],"Importantly,":[275],"did":[281],"degranulate":[283],"nor":[284],"produced":[285],"proinflammatory":[286],"cytokines,":[287],"demonstrating":[288],"storeoperated":[290],"overall":[296],"effector":[299],"functions.":[300],"diagnostics":[303],"have":[304],"relied":[305],"little":[312],"had":[313],"done":[315],"evaluate":[317],"these":[322],"patients.":[323],"VI,":[326],"how":[329,482],"marker":[332],"CD57":[333],"can":[334,357],"be":[335],"used":[336],"identify":[338],"bone":[339],"fide":[340],"lymphocytes,":[343],"readily":[344],"allowing":[345],"identification":[346],"subset":[351],"expresses":[353],"intracellular":[354],"perforin":[355],"efficiently":[358],"TCR":[363],"engagement.":[364],"The":[365,435],"CD8+CD57+":[366],"subset,":[369],"similar":[370,392,811],"CD56dim":[372],"display":[378],"FHL":[382],"types":[383],"3-5,":[384],"suggesting":[385],"CTL":[386],"molecular":[393,812],"requirements.":[394],"paper":[396],"VII,":[397],"compared":[399],"K562":[402],"cell-induced":[403],"II)":[409],"against":[410],"newly":[412],"VI)":[419],"prospectively":[420],"evaluating":[421,477],"all":[422],"sent":[426],"our":[428,485],"laboratory":[429],"during":[430],"3":[432,625],"year":[433],"period.":[434],"excelled":[439],"respect":[441],"specificity":[445],"(97%":[446],"95%,":[448],"respectively)":[449],"predicting":[451],"degranulation.":[456],"Combining":[457],"increased":[465],"demonstrates":[470],"power":[472,505],"activity":[480,529],"this":[483],"expands":[484],"understanding":[486],"their":[488],"biological":[489],"syndrome.":[495],"simple,":[497],"rapid":[498,568],"accurate":[500],"give":[502],"us":[503],"quickly":[507],"diagnose":[508],"lifethreatening":[510],"disease":[511],"initiate":[513],"treatment,":[514],"thus":[515],"saving":[516],"lives.":[517],"List":[518],"scientific":[520],"papers":[521],"I.":[522],"Measurement":[523],"phenotype":[527],"humans.":[531],"Chiang":[532,586,638,705,748,823,890],"SCC":[533],"Bryceson":[535,574,683,722,780,866,910],"YT.":[536,684,723,867,911],"[In]":[537],"Manual":[538],"Molecular":[540],"Clinical":[542],"Laboratory":[543],"Immunology,":[544],"8th":[545],"ed.":[546],"Detrick":[547],"B,":[548,647,677,753,893],"Hamilton":[549],"RG,":[550],"Schmitz":[551],"J":[552],"(ed),":[553],"ASM":[554],"Press,":[555],"Washington,":[556],"DC.":[557],"[Accepted]":[558],"II.":[559],"A":[560,794],"prospective":[561],"evaluation":[562],"familial":[571,698],"syndromes.":[573],"YT,":[575,781],"Pende":[576],"D,":[577,595],"Maul-Pavicic":[578,746],"A,":[579,747,751,846,850],"Gilmour":[580,837],"KC,":[581,838],"Ufheil":[582],"H,":[583,645,657,708,771,895],"Vraetz":[584],"T,":[585,671,765],"SCC,":[587,639,706,749,824,891],"Marcenaro":[588],"S,":[589,663,665,759,769,779,856],"Meazza":[590],"R,":[591],"Bondzio":[592],"I,":[593,763],"Walshe":[594],"Janka":[596],"G,":[597,653],"Lehmberg":[598],"K,":[599,601,775,777,901],"Beutel":[600],"zur":[602],"Stadt":[603],"U,":[604],"Binder":[605],"N,":[606],"Arico":[607],"M,":[608,637,643,667,679,704,710,718,761,828,830,832,840,844,852,860,897,907],"Moretta":[609],"L,":[610,661],"Henter":[611,680,719,863,908],"JI,":[612],"Ehl":[614,783],"S.":[615,784],"Blood":[616,685,868],"(2012).":[617],"119(12):2754-2763.":[618],"https://doi.org/10.1182/blood-2011-08-374199":[619],"III.":[620],"Familial":[621],"type":[624,701],"(FHL3)":[626],"caused":[627],"by":[628],"deep":[629,691],"mutation":[631],"UNC13D.":[635],"Meeths":[636,709,829,896],"Wood":[640,756],"SM,":[641,757],"Entesarian":[642,703,827],"Schlums":[644,707],"Bang":[646],"Nordenskj\u00f6ld":[648,678,717,859,906],"E,":[649,854],"Bj\u00f6rklund":[650],"C,":[651,755,842],"Jakovljevic":[652],"Jazbec":[654],"J,":[655,673,826,848,858,899],"Hasle":[656],"Holmqvist":[658],"BM,":[659],"Rajic":[660],"Pfeifer":[662],"Rosth\u00f8j":[664],"Sabel":[666,851],"Salmi":[668],"TT,":[669],"Stokland":[670],"Winiarski":[672,857],"Ljunggren":[674,861,904],"HG,":[675,862],"Fadeel":[676],"J-I,":[681,720,864,909],"(2011).":[686,795],"118(22):5783-5793.":[687],"https://doi.org/10.1182/blood-2011-07-369090":[688],"IV.":[689],"Novel":[690],"missense":[694],"haemophagocytic":[699],"3.":[702],"Chan":[711],"MY,":[712],"Mya":[713],"SN,":[714],"Soh":[715],"SY,":[716],"British":[724],"Journal":[725],"Haematology":[727],"(2013).":[728,869],"162(3):415-418.":[729],"https://doi.org/10.1111/bjh.12371":[730],"V.":[731],"ORAI1-mediated":[732],"calcium":[733],"influx":[734],"human":[738,802],"lysis.":[745],"Rensing-Ehl":[750],"Jessen":[752],"Fauriat":[754],"Sj\u00f6qvist":[758],"Hufnagel":[760],"Schulze":[762],"Bass":[764],"Schamel":[766],"WW,":[767],"Fuchs":[768],"Pircher":[770],"McCarl":[772],"CA,":[773],"Mikoshiba":[774],"Schwarz":[776],"Feske":[778],"Proceedings":[785],"National":[788],"Academy":[789],"Science":[791],"U":[792],"S":[793],"108(8):3324-3329.":[796],"https://doi.org/10.1073/pnas.1013285108":[797],"VI.":[798],"Comparison":[799],"T-cell":[804],"reveal":[810],"requirements":[813],"lytic":[815],"differences":[819],"production.":[822],"Theorell":[825],"Mastafa":[831],"Al-Herz":[833],"W,":[834],"Frisk":[835],"P,":[836],"Ifversen":[839],"Langenski\u00f6ld":[841],"Machaczka":[843],"Naqvi":[845],"Payne":[847],"Perez-Martinez":[849],"Unal":[853,855],"121(8):1345-1356.":[870],"https://doi.org/10.1182/blood-2012-07-442558":[871],"VII.":[872],"Efficacy":[873],"Tesi":[892],"Schulms":[894],"Nejati-Zendegani":[898],"M\u00f6rdrup":[900],"Horne":[902],"AC,":[903],"H-G,":[905],"[Manuscript]":[912]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}