{"id":"https://openalex.org/W7225816489","doi":"https://doi.org/10.52340/gs.2026.08.04(1).51","title":"THE IMPORTANCE OF SCREENING IN PREVENTING INTENSIVE CARE ADMISSIONS FOR SEVERE COMBINED IMMUNODEFICIENCY (SCID): LESSONS FROM A HIGH-CONSANGUINITY COHORT","display_name":"THE IMPORTANCE OF SCREENING IN PREVENTING INTENSIVE CARE ADMISSIONS FOR SEVERE COMBINED IMMUNODEFICIENCY (SCID): LESSONS FROM A HIGH-CONSANGUINITY COHORT","publication_year":2026,"publication_date":"2026-11-11","ids":{"openalex":"https://openalex.org/W7225816489","doi":"https://doi.org/10.52340/gs.2026.08.04(1).51"},"language":"en","primary_location":{"id":"doi:10.52340/gs.2026.08.04(1).51","doi":"https://doi.org/10.52340/gs.2026.08.04(1).51","is_oa":true,"landing_page_url":"https://doi.org/10.52340/gs.2026.08.04(1).51","pdf_url":null,"source":{"id":"https://openalex.org/S4210238182","display_name":"GEORGIAN SCIENTISTS","issn_l":"2667-9760","issn":["2667-9760"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4387155489","host_organization_name":"Association for Science","host_organization_lineage":["https://openalex.org/I4387155489"],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"GEORGIAN SCIENTISTS","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://doi.org/10.52340/gs.2026.08.04(1).51","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5106882983","display_name":"Elene Melikidze","orcid":"https://orcid.org/0009-0007-0710-7985","observed_orcids":["https://orcid.org/0009-0007-0710-7985"]},"institutions":[{"id":"https://openalex.org/I7848551","display_name":"Tbilisi State Medical University","ror":"https://ror.org/020jbrt22","country_code":"GE","type":"education","lineage":["https://openalex.org/I7848551"]}],"countries":["GE"],"is_corresponding":false,"raw_author_name":"Elene Melikidze","raw_affiliation_strings":["Tbilisi State Medical University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Tbilisi State Medical University","institution_ids":["https://openalex.org/I7848551"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059404564","display_name":"Eka Kvaratskhelia","orcid":"https://orcid.org/0000-0002-1200-0230","observed_orcids":["https://orcid.org/0000-0002-1200-0230"]},"institutions":[{"id":"https://openalex.org/I7848551","display_name":"Tbilisi State Medical University","ror":"https://ror.org/020jbrt22","country_code":"GE","type":"education","lineage":["https://openalex.org/I7848551"]}],"countries":["GE"],"is_corresponding":false,"raw_author_name":"Eka Kvaratskhelia","raw_affiliation_strings":["Tbilisi State Medical University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Tbilisi State Medical University","institution_ids":["https://openalex.org/I7848551"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5079365578","display_name":"Tinatin Tkemaladze","orcid":"https://orcid.org/0000-0003-1924-6695","observed_orcids":["https://orcid.org/0000-0003-1924-6695"]},"institutions":[{"id":"https://openalex.org/I7848551","display_name":"Tbilisi State Medical University","ror":"https://ror.org/020jbrt22","country_code":"GE","type":"education","lineage":["https://openalex.org/I7848551"]}],"countries":["GE"],"is_corresponding":false,"raw_author_name":"Tinatin Tkemaladze","raw_affiliation_strings":["Tbilisi State Medical University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Tbilisi State Medical University","institution_ids":["https://openalex.org/I7848551"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I7848551"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9994999766349792,"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"}},"topics":[{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9994999766349792,"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/T12919","display_name":"Blood disorders and treatments","score":9.999999747378752e-05,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8468999862670898},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.6413000226020813},{"id":"https://openalex.org/C137403100","wikidata":"https://www.wikidata.org/wiki/Q41710","display_name":"Ethnic group","level":2,"score":0.5785999894142151},{"id":"https://openalex.org/C2987404301","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care","level":2,"score":0.5357999801635742},{"id":"https://openalex.org/C2776169613","wikidata":"https://www.wikidata.org/wiki/Q2305910","display_name":"Newborn screening","level":2,"score":0.5246000289916992},{"id":"https://openalex.org/C2779468541","wikidata":"https://www.wikidata.org/wiki/Q1334408","display_name":"Severe combined immunodeficiency","level":3,"score":0.48489999771118164},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.47780001163482666},{"id":"https://openalex.org/C167135981","wikidata":"https://www.wikidata.org/wiki/Q2146302","display_name":"Retrospective cohort study","level":2,"score":0.46299999952316284},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.4478999972343445},{"id":"https://openalex.org/C29374701","wikidata":"https://www.wikidata.org/wiki/Q1931388","display_name":"Cause of death","level":3,"score":0.42739999294281006},{"id":"https://openalex.org/C2776888751","wikidata":"https://www.wikidata.org/wiki/Q767485","display_name":"Respiratory failure","level":2,"score":0.42579999566078186},{"id":"https://openalex.org/C61511704","wikidata":"https://www.wikidata.org/wiki/Q1671857","display_name":"Incidence (geometry)","level":2,"score":0.42250001430511475},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4187000095844269},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.41110000014305115},{"id":"https://openalex.org/C2777607303","wikidata":"https://www.wikidata.org/wiki/Q641307","display_name":"Immunodeficiency","level":3,"score":0.38989999890327454},{"id":"https://openalex.org/C2779019163","wikidata":"https://www.wikidata.org/wiki/Q3043160","display_name":"Primary immunodeficiency","level":3,"score":0.3303999900817871},{"id":"https://openalex.org/C107130276","wikidata":"https://www.wikidata.org/wiki/Q133805","display_name":"Epidemiology","level":2,"score":0.3095000088214874},{"id":"https://openalex.org/C201903717","wikidata":"https://www.wikidata.org/wiki/Q1778788","display_name":"Cohort study","level":2,"score":0.30799999833106995},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.2996000051498413},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.2784999907016754},{"id":"https://openalex.org/C195910791","wikidata":"https://www.wikidata.org/wiki/Q1324077","display_name":"Medical record","level":2,"score":0.273499995470047},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.2734000086784363},{"id":"https://openalex.org/C534529494","wikidata":"https://www.wikidata.org/wiki/Q7891","display_name":"Respiratory system","level":2,"score":0.2612000107765198},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.25540000200271606},{"id":"https://openalex.org/C2993183539","wikidata":"https://www.wikidata.org/wiki/Q754447","display_name":"Respiratory infection","level":3,"score":0.25130000710487366}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.52340/gs.2026.08.04(1).51","doi":"https://doi.org/10.52340/gs.2026.08.04(1).51","is_oa":true,"landing_page_url":"https://doi.org/10.52340/gs.2026.08.04(1).51","pdf_url":null,"source":{"id":"https://openalex.org/S4210238182","display_name":"GEORGIAN SCIENTISTS","issn_l":"2667-9760","issn":["2667-9760"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4387155489","host_organization_name":"Association for Science","host_organization_lineage":["https://openalex.org/I4387155489"],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"GEORGIAN SCIENTISTS","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.52340/gs.2026.08.04(1).51","doi":"https://doi.org/10.52340/gs.2026.08.04(1).51","is_oa":true,"landing_page_url":"https://doi.org/10.52340/gs.2026.08.04(1).51","pdf_url":null,"source":{"id":"https://openalex.org/S4210238182","display_name":"GEORGIAN SCIENTISTS","issn_l":"2667-9760","issn":["2667-9760"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4387155489","host_organization_name":"Association for Science","host_organization_lineage":["https://openalex.org/I4387155489"],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"GEORGIAN SCIENTISTS","raw_type":"journal-article"},"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":[],"abstract_inverted_index":{"Background:":[0],"Severe":[1],"combined":[2],"immunodeficiency":[3,283],"(SCID)":[4],"represents":[5],"a":[6,43,50,229,270,315],"group":[7],"of":[8,61,65,93,133,168,183,211,218,224,264,293,337,378,414],"treatable":[9],"disorders":[10],"leading":[11],"to":[12,102,110,142,358],"frequent":[13],"infections,":[14],"malignancies,":[15],"and":[16,86,130,148,157,195,207,215,220,258,310,333,340,376,398,416],"even":[17],"death":[18,41],"if":[19],"left":[20],"untreated.":[21],"Without":[22],"newborn":[23,387],"screening":[24,182,388],"(NBS),":[25],"infants":[26],"develop":[27],"severe":[28,253,404],"recurrent":[29,212,288,348],"infections":[30,214,405],"that":[31,323,347],"require":[32],"emergency":[33,395],"intensive":[34],"care":[35],"(NICU/PICU)":[36],"admissions,":[37,397],"often":[38],"ending":[39],"in":[40,57,73,122,139,170,174,236,298,328,351,370],"before":[42,403],"diagnosis":[44,409],"is":[45],"made.":[46],"Ethnic":[47],"Azerbaijanis":[48],"represent":[49],"highly":[51],"consanguineous,":[52],"isolated":[53],"minority":[54],"residing":[55,173,369],"mostly":[56],"the":[58,128,140,165,237,244,286,321,329,335,374],"southern":[59,175,371],"part":[60],"Georgia.":[62],"The":[63,276,291],"prevalence":[64],"rare":[66,295],"genetic":[67,131,158,267,341,412],"immunodeficiencies":[68],"has":[69],"never":[70],"been":[71],"studied":[72],"this":[74,90,123,294],"population.":[75],"We":[76,126],"have":[77,108],"identified":[78],"several":[79,97],"seemingly":[80,352],"unrelated":[81,278,300,353],"families":[82,301,354,415],"with":[83,252,282,326],"homozygous":[84,230,271,349],"ADA":[85,289,296],"JAK3":[87],"mutations":[88,350],"from":[89,243,280,302],"community,":[91],"all":[92],"whom":[94],"died":[95,210],"within":[96],"months":[98],"after":[99],"birth":[100],"due":[101,357],"SCID,":[103],"whereas":[104],"early":[105,391],"identification":[106],"could":[107],"led":[109],"life-saving":[111,400],"interventions.":[112],"Based":[113],"on":[114,314],"these":[115],"findings,":[116],"SCID":[117,136,169,327,362,380],"may":[118,312,355,363],"be":[119,356,364],"heavily":[120],"underdiagnosed":[121,365],"region.":[124],"Methods:":[125],"analyzed":[127],"clinical":[129],"records":[132],"ethnic":[134,171,184,199,367],"Azerbaijani":[135,185,200],"patients":[137],"hospitalized":[138],"NICU/PICU":[141],"document":[143],"disease":[144],"severity,":[145],"hospital":[146],"course,":[147],"underlying":[149],"mutations.":[150],"Diagnosis":[151],"was":[152,247],"established":[153],"via":[154],"immune":[155],"profiling":[156],"testing":[159,227,268],"(whole":[160],"exome":[161],"sequencing).":[162],"To":[163],"assess":[164],"approximate":[166],"incidence":[167],"minorities":[172,368],"Georgia,":[176,372],"we":[177],"are":[178],"currently":[179],"performing":[180],"retrospective":[181],"newborns'":[186],"dried":[187],"blood":[188],"spot":[189],"cards":[190],"using":[191],"TREC/KREC":[192,386],"assays.":[193],"Results":[194],"Discussion:":[196],"In":[197],"one":[198],"family,":[201],"three":[202],"siblings":[203],"aged":[204],"4,":[205],"8,":[206],"7":[208,250],"months,":[209],"respiratory":[213,255],"low":[216],"count":[217],"T":[219],"B":[221],"lymphocytes,":[222],"suggesting":[223],"SCID.":[225,265],"Genetic":[226],"revealed":[228],"JAK3,":[231],"c.1383dup":[232],"p.(Leu462Alafs*58)":[233],"pathogenic":[234],"variant":[235,297],"third":[238],"sibling.":[239],"Another":[240],"infant":[241,279],"patient":[242],"Dmanisi":[245,309],"region":[246,330],"admitted":[248],"at":[249],"weeks":[251],"pneumonia,":[254],"failure,":[256],"sepsis,":[257],"peritonitis;":[259],"immunological":[260],"assays":[261],"were":[262],"suggestive":[263],"Further":[266],"confirmed":[269],"ADA,":[272],"c.44A>T":[273],"p.(His15Leu)":[274],"variant.":[275,290],"other":[277,324],"Marneuli":[281],"also":[284,410],"had":[285],"same":[287],"occurrence":[292],"two":[299],"neighboring":[303],"regions":[304],"(60":[305],"km":[306],"distance":[307],"between":[308],"Marneuli),":[311],"indicate":[313],"founder":[316,359],"effect.":[317,360],"This":[318],"finding":[319,345],"raises":[320],"possibility":[322],"children":[325],"remain":[331],"undiagnosed":[332],"underscores":[334],"importance":[336],"timely":[338],"recognition":[339],"testing.":[342],"Conclusion:":[343],"Our":[344],"suggest":[346],"Moreover,":[361],"among":[366],"emphasizing":[373],"urgency":[375],"cost-effectiveness":[377],"introducing":[379],"into":[381],"national":[382],"NBS.":[383],"Implementing":[384],"routine":[385],"will":[389],"enable":[390],"presymptomatic":[392],"diagnosis,":[393],"avoid":[394],"PICU/NICU":[396],"ensure":[399],"curative":[401],"treatment":[402],"occur.":[406],"Precise":[407],"molecular":[408],"enables":[411],"counselling":[413],"informed":[417],"decision-making":[418],"for":[419],"reproductive":[420],"risk":[421],"management.":[422]},"counts_by_year":[],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2026-11-12T00:00:00"}
