{"id":"https://openalex.org/W7225406170","doi":"https://doi.org/10.1155/crig/3130765","title":"Delayed Diagnosis of Germline GATA2 Deficiency Following Severe Adolescent Iliocaval Thrombosis and Decade\u2010Long Monocytopenia: Diagnostic and Testing Pitfalls","display_name":"Delayed Diagnosis of Germline GATA2 Deficiency Following Severe Adolescent Iliocaval Thrombosis and Decade\u2010Long Monocytopenia: Diagnostic and Testing Pitfalls","publication_year":2026,"publication_date":"2026-01-01","ids":{"openalex":"https://openalex.org/W7225406170","doi":"https://doi.org/10.1155/crig/3130765","pmid":"https://pubmed.ncbi.nlm.nih.gov/42996822","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13740474"},"language":"en","primary_location":{"id":"doi:10.1155/crig/3130765","doi":"https://doi.org/10.1155/crig/3130765","is_oa":true,"landing_page_url":"https://doi.org/10.1155/crig/3130765","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/crig/3130765","source":{"id":"https://openalex.org/S2764656053","display_name":"Case Reports in Genetics","issn_l":"2090-6544","issn":["2090-6544","2090-6552"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj"],"host_organization":"https://openalex.org/P4310319869","host_organization_name":"Hindawi Publishing Corporation","host_organization_lineage":["https://openalex.org/P4310319869","https://openalex.org/P4310320595"],"host_organization_lineage_names":["Hindawi Publishing Corporation","Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/crig/3130765","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5078253569","display_name":"Ahsan Wahab","orcid":"https://orcid.org/0000-0003-3597-1838","observed_orcids":["https://orcid.org/0000-0003-3597-1838"]},"institutions":[{"id":"https://openalex.org/I39422238","display_name":"University of Illinois Chicago","ror":"https://ror.org/02mpq6x41","country_code":"US","type":"education","lineage":["https://openalex.org/I39422238"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ahsan Wahab","raw_affiliation_strings":["Division of Hematology/Oncology Department of Medicine University of Illinois Chicago  Chicago Illinois USA  duhs.edu.pk"],"raw_orcid":"https://orcid.org/0000-0003-3597-1838","affiliations":[{"raw_affiliation_string":"Division of Hematology/Oncology Department of Medicine University of Illinois Chicago  Chicago Illinois USA  duhs.edu.pk","institution_ids":["https://openalex.org/I39422238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5120587348","display_name":"Moujtaba Zahweh","orcid":"https://orcid.org/0009-0009-1957-2491","observed_orcids":["https://orcid.org/0009-0009-1957-2491"]},"institutions":[{"id":"https://openalex.org/I39422238","display_name":"University of Illinois Chicago","ror":"https://ror.org/02mpq6x41","country_code":"US","type":"education","lineage":["https://openalex.org/I39422238"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Moujtaba Zahweh","raw_affiliation_strings":["Division of Hematology/Oncology Department of Medicine University of Illinois Chicago  Chicago Illinois USA  duhs.edu.pk"],"raw_orcid":"https://orcid.org/0009-0009-1957-2491","affiliations":[{"raw_affiliation_string":"Division of Hematology/Oncology Department of Medicine University of Illinois Chicago  Chicago Illinois USA  duhs.edu.pk","institution_ids":["https://openalex.org/I39422238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106032013","display_name":"Michael B. Stone","orcid":"https://orcid.org/0009-0005-7012-7749","observed_orcids":["https://orcid.org/0009-0005-7012-7749"]},"institutions":[{"id":"https://openalex.org/I39422238","display_name":"University of Illinois Chicago","ror":"https://ror.org/02mpq6x41","country_code":"US","type":"education","lineage":["https://openalex.org/I39422238"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael Stone","raw_affiliation_strings":["Department of Pathology University of Illinois Chicago  Chicago Illinois USA  uic.edu"],"raw_orcid":"https://orcid.org/0009-0005-7012-7749","affiliations":[{"raw_affiliation_string":"Department of Pathology University of Illinois Chicago  Chicago Illinois USA  uic.edu","institution_ids":["https://openalex.org/I39422238"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5064773819","display_name":"John G. Quigley","orcid":"https://orcid.org/0000-0003-3116-4545","observed_orcids":["https://orcid.org/0000-0003-3116-4545"]},"institutions":[{"id":"https://openalex.org/I39422238","display_name":"University of Illinois Chicago","ror":"https://ror.org/02mpq6x41","country_code":"US","type":"education","lineage":["https://openalex.org/I39422238"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"John G. Quigley","raw_affiliation_strings":["Division of Hematology/Oncology Department of Medicine University of Illinois Chicago  Chicago Illinois USA  duhs.edu.pk"],"raw_orcid":"https://orcid.org/0000-0003-3116-4545","affiliations":[{"raw_affiliation_string":"Division of Hematology/Oncology Department of Medicine University of Illinois Chicago  Chicago Illinois USA  duhs.edu.pk","institution_ids":["https://openalex.org/I39422238"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5064773819"],"corresponding_institution_ids":["https://openalex.org/I39422238"],"apc_list":{"value":790,"currency":"USD","value_usd":790},"apc_paid":{"value":790,"currency":"USD","value_usd":790},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.87054863,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"2026","issue":"1","first_page":"3130765","last_page":"3130765"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":0.7383000254631042,"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":0.7383000254631042,"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":0.23240000009536743,"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/T10309","display_name":"Acute Myeloid Leukemia Research","score":0.006099999882280827,"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/gata2-deficiency","display_name":"GATA2 deficiency","score":0.9399999976158142},{"id":"https://openalex.org/keywords/venous-thrombosis","display_name":"venous thrombosis","score":0.8939999938011169},{"id":"https://openalex.org/keywords/iliocaval-thrombosis","display_name":"iliocaval thrombosis","score":0.9909999966621399},{"id":"https://openalex.org/keywords/monocytopenia","display_name":"monocytopenia","score":0.859000027179718},{"id":"https://openalex.org/keywords/hypocellular-myelodysplastic-syndrome","display_name":"hypocellular myelodysplastic syndrome","score":0.8569999933242798},{"id":"https://openalex.org/keywords/stag2","display_name":"STAG2","score":0.6159999966621399},{"id":"https://openalex.org/keywords/renal-infarction","display_name":"renal infarction","score":0.921999990940094},{"id":"https://openalex.org/keywords/urogenital-chlamydial-infection","display_name":"urogenital chlamydial infection","score":0.8370000123977661},{"id":"https://openalex.org/keywords/allogeneic-hematopoietic-stem-cell-transplantation","display_name":"allogeneic hematopoietic stem cell transplantation","score":0.8930000066757202},{"id":"https://openalex.org/keywords/adolescents","display_name":"adolescents","score":0.3720000088214874},{"id":"https://openalex.org/keywords/delayed-diagnosis","display_name":"delayed diagnosis","score":0.39500001072883606}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8458999991416931},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.5321000218391418},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.5159000158309937},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.46369999647140503},{"id":"https://openalex.org/C2780007613","wikidata":"https://www.wikidata.org/wiki/Q546523","display_name":"Bone marrow","level":2,"score":0.462799996137619},{"id":"https://openalex.org/C2780011451","wikidata":"https://www.wikidata.org/wiki/Q2751330","display_name":"Venous thrombosis","level":3,"score":0.4390999972820282},{"id":"https://openalex.org/C2779282312","wikidata":"https://www.wikidata.org/wiki/Q1956561","display_name":"Myeloid","level":2,"score":0.4390000104904175},{"id":"https://openalex.org/C43821964","wikidata":"https://www.wikidata.org/wiki/Q18025461","display_name":"GATA2","level":4,"score":0.4374000132083893},{"id":"https://openalex.org/C2780868729","wikidata":"https://www.wikidata.org/wiki/Q261327","display_name":"Thrombosis","level":2,"score":0.4307999908924103},{"id":"https://openalex.org/C2780817109","wikidata":"https://www.wikidata.org/wiki/Q954625","display_name":"Myelodysplastic syndromes","level":3,"score":0.383899986743927},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.38119998574256897},{"id":"https://openalex.org/C2778729363","wikidata":"https://www.wikidata.org/wiki/Q11688946","display_name":"Myeloid leukemia","level":2,"score":0.36910000443458557},{"id":"https://openalex.org/C2780525284","wikidata":"https://www.wikidata.org/wiki/Q7882181","display_name":"Bone marrow failure","level":4,"score":0.3686999976634979},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3659999966621399},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.30550000071525574},{"id":"https://openalex.org/C109159458","wikidata":"https://www.wikidata.org/wiki/Q919283","display_name":"Haematopoiesis","level":3,"score":0.29649999737739563},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.296099990606308},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.28189998865127563},{"id":"https://openalex.org/C174475383","wikidata":"https://www.wikidata.org/wiki/Q246128","display_name":"Cytogenetics","level":4,"score":0.2766999900341034},{"id":"https://openalex.org/C2777408962","wikidata":"https://www.wikidata.org/wiki/Q1128050","display_name":"Hematopoietic stem cell transplantation","level":3,"score":0.27399998903274536},{"id":"https://openalex.org/C2778219007","wikidata":"https://www.wikidata.org/wiki/Q1777322","display_name":"Bone marrow examination","level":3,"score":0.2727999985218048},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.27079999446868896},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.2574999928474426},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.2565000057220459},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.2554999887943268},{"id":"https://openalex.org/C2780611847","wikidata":"https://www.wikidata.org/wiki/Q348922","display_name":"Busulfan","level":4,"score":0.2506999969482422}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1155/crig/3130765","doi":"https://doi.org/10.1155/crig/3130765","is_oa":true,"landing_page_url":"https://doi.org/10.1155/crig/3130765","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/crig/3130765","source":{"id":"https://openalex.org/S2764656053","display_name":"Case Reports in Genetics","issn_l":"2090-6544","issn":["2090-6544","2090-6552"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj"],"host_organization":"https://openalex.org/P4310319869","host_organization_name":"Hindawi Publishing Corporation","host_organization_lineage":["https://openalex.org/P4310319869","https://openalex.org/P4310320595"],"host_organization_lineage_names":["Hindawi Publishing Corporation","Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Genetics","raw_type":"journal-article"},{"id":"pmid:42996822","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42996822","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":"Case reports in genetics","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13740474","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13740474/","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Rep Genet","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1155/crig/3130765","doi":"https://doi.org/10.1155/crig/3130765","is_oa":true,"landing_page_url":"https://doi.org/10.1155/crig/3130765","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/crig/3130765","source":{"id":"https://openalex.org/S2764656053","display_name":"Case Reports in Genetics","issn_l":"2090-6544","issn":["2090-6544","2090-6552"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj"],"host_organization":"https://openalex.org/P4310319869","host_organization_name":"Hindawi Publishing Corporation","host_organization_lineage":["https://openalex.org/P4310319869","https://openalex.org/P4310320595"],"host_organization_lineage_names":["Hindawi Publishing Corporation","Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7225406170.pdf","grobid_xml":"https://content.openalex.org/works/W7225406170.grobid-xml"},"referenced_works_count":21,"referenced_works":["https://openalex.org/W1990196345","https://openalex.org/W2012170616","https://openalex.org/W2149694338","https://openalex.org/W2162675774","https://openalex.org/W2233236546","https://openalex.org/W2613566589","https://openalex.org/W2800150695","https://openalex.org/W2909148065","https://openalex.org/W3006956476","https://openalex.org/W3082244035","https://openalex.org/W4229011741","https://openalex.org/W4252225072","https://openalex.org/W4256355076","https://openalex.org/W4282842344","https://openalex.org/W4310602582","https://openalex.org/W4318928664","https://openalex.org/W4378620081","https://openalex.org/W4412458133","https://openalex.org/W4412774048","https://openalex.org/W4414339425","https://openalex.org/W7124242625"],"related_works":["https://openalex.org/W7108657529","https://openalex.org/W4391274432","https://openalex.org/W7096721271","https://openalex.org/W2805540986","https://openalex.org/W2162675774","https://openalex.org/W2795918664","https://openalex.org/W7108449325","https://openalex.org/W4310117882","https://openalex.org/W4229065629","https://openalex.org/W2066662718"],"abstract_inverted_index":{"GATA2":[0,98,106,122,129,175,211,252],"haploinsufficiency":[1],"is":[2],"an":[3,190],"autosomal":[4],"dominant":[5],"germline":[6,212],"bone":[7,110],"marrow":[8,68,111],"disorder":[9],"with":[10,72,77,86,220],"heterogeneous":[11],"manifestations,":[12],"including":[13,28],"cytopenias,":[14],"recurrent":[15,60,234,271],"infections,":[16],"and":[17,49,64,74,116,182,246,263,273],"progression":[18,268],"to":[19,173,228,266,269],"myelodysplastic":[20],"syndrome":[21],"(MDS)/acute":[22],"myeloid":[23,92],"leukemia":[24],"(AML).":[25],"Vascular":[26],"complications,":[27],"venous":[29,153,187],"thrombosis,":[30,235,272],"are":[31],"increasingly":[32],"recognized.":[33],"We":[34],"present":[35],"a":[36,82,121,221],"male":[37],"who":[38],"developed":[39,59],"extensive":[40,186,224],"iliocaval":[41],"thrombosis":[42,188,225],"at":[43,230],"age":[44],"16":[45],"after":[46,241],"minor":[47,193],"surgery":[48],"had":[50],"persistent":[51,180],"absolute":[52],"monocytopenia,":[53],"which":[54,156],"remained":[55],"unaddressed.":[56],"He":[57,131],"subsequently":[58],"urogenital":[61],"chlamydial":[62],"infections":[63],"progressive":[65],"cytopenias.":[66],"Bone":[67],"evaluation":[69],"revealed":[70,120],"hypocellularity":[71],"dysmegakaryopoiesis":[73],"dysgranulopoiesis,":[75],"consistent":[76],"hypocellular":[78],"MDS;":[79],"cytogenetics":[80],"showed":[81],"gain":[83],"of":[84,114,166,179,185,201,223,233,244,251,260],"1q":[85],"der(1;":[87],"21)":[88],"(q10;":[89],"q10).":[90],"Comprehensive":[91],"next\u2010generation":[93],"sequencing":[94],"panel":[95],"(that":[96],"included":[97],")":[99],"identified":[100],"truncating":[101],"STAG2":[102],",":[103],"but":[104],"no":[105],"coding":[107],"mutations.":[108],"Hereditary":[109],"failure":[112],"testing":[113,259],"blood":[115],"skin":[117],"fibroblasts,":[118],"however,":[119],"intron":[123],"4":[124],"enhancer":[125],"(+9.5Kb)":[126],"variant,":[127],"confirming":[128],"deficiency.":[130],"was":[132,145],"referred":[133],"for":[134,148,151,216],"allogeneic":[135],"hematopoietic":[136],"stem":[137],"cell":[138],"transplant.":[139],"During":[140],"the":[141,177,183,199],"pretransplant":[142],"phase,":[143],"anticoagulation":[144,219],"temporarily":[146],"held":[147],"3":[149],"days":[150],"central":[152],"catheter":[154],"placement,":[155],"resulted":[157],"in":[158,189,208],"renal":[159],"infarction,":[160],"indicating":[161],"his":[162],"ongoing":[163],"high":[164,231],"risk":[165,232],"thrombosis.":[167],"This":[168],"case":[169],"highlights":[170],"missed":[171],"opportunities":[172],"diagnose":[174],"deficiency:":[176],"presence":[178],"monocytopenia":[181],"development":[184],"adolescent":[191],"following":[192],"surgery.":[194],"In":[195,214],"addition,":[196,215],"it":[197],"demonstrates":[198],"limitations":[200],"standard":[202],"somatic":[203],"exome\u2010focused":[204],"(\u2018myeloid":[205],"disorder\u2019)":[206],"panels":[207],"detecting":[209],"noncoding":[210],"variants.":[213],"patients":[217],"on":[218],"history":[222],"or":[226],"considered":[227],"be":[229,239],"periprocedural":[236],"bridging":[237],"should":[238],"considered,":[240],"careful":[242],"assessment":[243],"thrombotic":[245],"bleeding":[247],"risks.":[248],"Early":[249],"recognition":[250],"deficiency":[253],"enables":[254],"timely":[255],"genetic":[256],"confirmation,":[257],"cascade":[258],"family":[261],"members":[262],"risk\u2010adapted":[264],"strategies":[265],"prevent":[267],"AML,":[270],"infections.":[274]},"counts_by_year":[],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2026-11-07T00:00:00"}