{"id":"https://openalex.org/W2057094546","doi":"https://doi.org/10.1007/s10875-007-9123-x","title":"Contiguous X-chromosome Deletion Syndrome Encompassing the BTK, TIMM8A, TAF7L, and DRP2 Genes","display_name":"Contiguous X-chromosome Deletion Syndrome Encompassing the BTK, TIMM8A, TAF7L, and DRP2 Genes","publication_year":2007,"publication_date":"2007-09-11","ids":{"openalex":"https://openalex.org/W2057094546","doi":"https://doi.org/10.1007/s10875-007-9123-x","mag":"2057094546","pmid":"https://pubmed.ncbi.nlm.nih.gov/17851739"},"language":"en","primary_location":{"id":"doi:10.1007/s10875-007-9123-x","doi":"https://doi.org/10.1007/s10875-007-9123-x","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10875-007-9123-x","pdf_url":null,"source":{"id":"https://openalex.org/S57504206","display_name":"Journal of Clinical Immunology","issn_l":"0271-9142","issn":["0271-9142","1573-2592"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Immunology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5026708588","display_name":"Anna \u0160ediv\u00e1","orcid":"https://orcid.org/0000-0001-7730-2304","observed_orcids":["https://orcid.org/0000-0001-7730-2304"]},"institutions":[{"id":"https://openalex.org/I4210097985","display_name":"University Hospital in Motol","ror":"https://ror.org/0125yxn03","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210097985","https://openalex.org/I4405269046"]}],"countries":["CZ"],"is_corresponding":true,"raw_author_name":"Anna \u0160ediv\u00e1","raw_affiliation_strings":["Institute of Immunology, University Hospital Motol, V Uvalu 84, 150 06, Prague 5, Czech Republic. anna.sediva@fnmotol.cz","Institute of Immunology, University Hospital Motol, V Uvalu 84, 150 06, Prague 5, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Immunology, University Hospital Motol, V Uvalu 84, 150 06, Prague 5, Czech Republic. anna.sediva@fnmotol.cz","institution_ids":["https://openalex.org/I4210097985"]},{"raw_affiliation_string":"Institute of Immunology, University Hospital Motol, V Uvalu 84, 150 06, Prague 5, Czech Republic","institution_ids":["https://openalex.org/I4210097985"]}]},{"author_position":"middle","author":{"id":null,"display_name":"C. I. Edvard Smith","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"C. I. Edvard Smith","raw_affiliation_strings":["Clinical Research Center, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Huddinge, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Research Center, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Huddinge, Sweden","institution_ids":["https://openalex.org/I1335113835","https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":null,"display_name":"A. Charlotta Asplund","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"A. Charlotta Asplund","raw_affiliation_strings":["Clinical Research Center, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Huddinge, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Research Center, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Huddinge, Sweden","institution_ids":["https://openalex.org/I1335113835","https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076270160","display_name":"Jan Hada\u010d","orcid":"https://orcid.org/0000-0002-1595-1736","observed_orcids":["https://orcid.org/0000-0002-1595-1736"]},"institutions":[{"id":"https://openalex.org/I4210144209","display_name":"Thomayer University Hospital","ror":"https://ror.org/04hyq8434","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210144209"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Jan Hada\u010d","raw_affiliation_strings":["Department of Neurology, Thomayer Hospital, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Thomayer Hospital, Prague, Czech Republic","institution_ids":["https://openalex.org/I4210144209"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024923772","display_name":"Ale\u0161 Janda","orcid":"https://orcid.org/0000-0001-5604-8378","observed_orcids":["https://orcid.org/0000-0001-5604-8378"]},"institutions":[{"id":"https://openalex.org/I4210097985","display_name":"University Hospital in Motol","ror":"https://ror.org/0125yxn03","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210097985","https://openalex.org/I4405269046"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Ale\u0161 Janda","raw_affiliation_strings":["Institute of Immunology, University Hospital Motol, V Uvalu 84, 150 06, Prague 5, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Immunology, University Hospital Motol, V Uvalu 84, 150 06, Prague 5, Czech Republic","institution_ids":["https://openalex.org/I4210097985"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033861784","display_name":"J Zeman","orcid":"https://orcid.org/0000-0002-2678-7919","observed_orcids":["https://orcid.org/0000-0002-2678-7919"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Ji\u0159\u00ed Zeman","raw_affiliation_strings":["Centre of Applied Genomics, First Medical Faculty, Charles University, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre of Applied Genomics, First Medical Faculty, Charles University, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069582545","display_name":"Hana Hans\u00edkov\u00e1","orcid":"https://orcid.org/0000-0002-2734-225X","observed_orcids":["https://orcid.org/0000-0002-2734-225X","https://orcid.org/0000-0002-8962-1975"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Hana Hans\u00edkov\u00e1","raw_affiliation_strings":["Centre of Applied Genomics, First Medical Faculty, Charles University, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre of Applied Genomics, First Medical Faculty, Charles University, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080809343","display_name":"Lenka Dvo\u0159\u00e1kov\u00e1","orcid":"https://orcid.org/0000-0002-1620-3211","observed_orcids":["https://orcid.org/0000-0002-1620-3211"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Lenka Dvo\u0159\u00e1kov\u00e1","raw_affiliation_strings":["Centre of Applied Genomics, First Medical Faculty, Charles University, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre of Applied Genomics, First Medical Faculty, Charles University, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016346163","display_name":"Lenka Steiner Mrazova","orcid":"https://orcid.org/0000-0003-4347-7768","observed_orcids":["https://orcid.org/0000-0003-4347-7768"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Lenka Mr\u00e1zov\u00e1","raw_affiliation_strings":["Centre of Applied Genomics, First Medical Faculty, Charles University, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre of Applied Genomics, First Medical Faculty, Charles University, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088163181","display_name":"S Velbri","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sirje Velbri","raw_affiliation_strings":["Tallinn Children\u2019s Hospital, Tallinn, Estonia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Tallinn Children\u2019s Hospital, Tallinn, Estonia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110229913","display_name":"Carla M. Koehler","orcid":"https://orcid.org/0000-0001-8685-2412","observed_orcids":["https://orcid.org/0000-0001-8685-2412"]},"institutions":[{"id":"https://openalex.org/I161318765","display_name":"University of California, Los Angeles","ror":"https://ror.org/046rm7j60","country_code":"US","type":"education","lineage":["https://openalex.org/I161318765"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carla Koehler","raw_affiliation_strings":["Department of Chemistry & Biochemistry, University of California, Los Angeles, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemistry & Biochemistry, University of California, Los Angeles, USA","institution_ids":["https://openalex.org/I161318765"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091807698","display_name":"Karin Roesch","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I161318765","display_name":"University of California, Los Angeles","ror":"https://ror.org/046rm7j60","country_code":"US","type":"education","lineage":["https://openalex.org/I161318765"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Karin Roesch","raw_affiliation_strings":["Department of Chemistry & Biochemistry, University of California, Los Angeles, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemistry & Biochemistry, University of California, Los Angeles, USA","institution_ids":["https://openalex.org/I161318765"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005713194","display_name":"Kathleen E. Sullivan","orcid":"https://orcid.org/0000-0003-4018-1646","observed_orcids":["https://orcid.org/0000-0003-4018-1646"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kathleen E. Sullivan","raw_affiliation_strings":["Department of Pediatrics, University of Pennsylvania, Philadelphia, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Pennsylvania, Philadelphia, USA","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015545475","display_name":"Takeshi Futatani","orcid":"https://orcid.org/0000-0002-2927-3470","observed_orcids":["https://orcid.org/0000-0002-2927-3470"]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]},{"id":"https://openalex.org/I42766147","display_name":"University of Toyama","ror":"https://ror.org/0445phv87","country_code":"JP","type":"education","lineage":["https://openalex.org/I42766147"]}],"countries":["JP","US"],"is_corresponding":false,"raw_author_name":"Takeshi Futatani","raw_affiliation_strings":["Department of Pediatrics School of Medicine, University of Washington, Seattle, USA","Department of Pediatrics, Toyama Medical and Pharmaceutical University, Toyama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics School of Medicine, University of Washington, Seattle, USA","institution_ids":["https://openalex.org/I201448701"]},{"raw_affiliation_string":"Department of Pediatrics, Toyama Medical and Pharmaceutical University, Toyama, Japan","institution_ids":["https://openalex.org/I42766147"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5062237763","display_name":"Hans D. Ochs","orcid":"https://orcid.org/0000-0002-7726-3218","observed_orcids":["https://orcid.org/0000-0002-7726-3218"]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hans D. Ochs","raw_affiliation_strings":["Department of Pediatrics School of Medicine, University of Washington, Seattle, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics School of Medicine, University of Washington, Seattle, USA","institution_ids":["https://openalex.org/I201448701"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5026708588"],"corresponding_institution_ids":["https://openalex.org/I4210097985"],"apc_list":{"value":4990,"currency":"USD","value_usd":4990},"apc_paid":null,"fwci":0.3711,"has_fulltext":false,"cited_by_count":41,"citation_normalized_percentile":{"value":0.61775321,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"27","issue":"6","first_page":"640","last_page":"646"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9990000128746033,"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":0.9990000128746033,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}},{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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":[{"id":"https://openalex.org/keywords/x-linked-agammaglobulinemia","display_name":"X-linked agammaglobulinemia","score":0.9900000095367432},{"id":"https://openalex.org/keywords/btk-gene","display_name":"BTK gene","score":0.7860000133514404},{"id":"https://openalex.org/keywords/sensorineural-hearing-loss","display_name":"sensorineural hearing loss","score":0.9139999747276306},{"id":"https://openalex.org/keywords/dystonia","display_name":"dystonia","score":0.9229999780654907},{"id":"https://openalex.org/keywords/neurological-deficit","display_name":"neurological deficit","score":0.8999999761581421},{"id":"https://openalex.org/keywords/immunodeficiency","display_name":"immunodeficiency","score":0.8029999732971191},{"id":"https://openalex.org/keywords/mitochondrial-protein-import","display_name":"mitochondrial protein import","score":0.8859999775886536},{"id":"https://openalex.org/keywords/atypical-clinical-course","display_name":"atypical clinical course","score":0.6019999980926514}],"concepts":[{"id":"https://openalex.org/C90059517","wikidata":"https://www.wikidata.org/wiki/Q423572","display_name":"Bruton's tyrosine kinase","level":4,"score":0.7650170922279358},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6466818451881409},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6447062492370605},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5343294143676758},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.5058633685112},{"id":"https://openalex.org/C190139176","wikidata":"https://www.wikidata.org/wiki/Q598976","display_name":"Medical microbiology","level":2,"score":0.43998467922210693},{"id":"https://openalex.org/C159047783","wikidata":"https://www.wikidata.org/wiki/Q7215","display_name":"Virology","level":1,"score":0.2085782289505005},{"id":"https://openalex.org/C42362537","wikidata":"https://www.wikidata.org/wiki/Q87099740","display_name":"Tyrosine kinase","level":3,"score":0.15140271186828613},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.08928883075714111}],"mesh":[{"descriptor_ui":"D000077329","descriptor_name":"Agammaglobulinaemia Tyrosine Kinase","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000090622","descriptor_name":"Mitochondrial Precursor Protein Import Complex Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000361","descriptor_name":"Agammaglobulinemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003937","descriptor_name":"Diagnosis, Differential","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011505","descriptor_name":"Protein-Tyrosine Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012319","descriptor_name":"RNA Polymerase II","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D026901","descriptor_name":"Membrane Transport Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035362","descriptor_name":"Transcription Factor TFIID","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035381","descriptor_name":"TATA-Binding Protein Associated Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D036341","descriptor_name":"Intercellular Signaling Peptides and Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D041321","descriptor_name":"Chromosomes, Human, X","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1007/s10875-007-9123-x","doi":"https://doi.org/10.1007/s10875-007-9123-x","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10875-007-9123-x","pdf_url":null,"source":{"id":"https://openalex.org/S57504206","display_name":"Journal of Clinical Immunology","issn_l":"0271-9142","issn":["0271-9142","1573-2592"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Immunology","raw_type":"journal-article"},{"id":"pmid:17851739","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17851739","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":"Journal of clinical immunology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G6881410248","display_name":null,"funder_award_id":"HD-17427","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":40,"referenced_works":["https://openalex.org/W101346564","https://openalex.org/W1487810807","https://openalex.org/W1506889194","https://openalex.org/W1511854000","https://openalex.org/W1533388322","https://openalex.org/W1576871607","https://openalex.org/W1601433000","https://openalex.org/W1967796318","https://openalex.org/W1969304546","https://openalex.org/W1971836082","https://openalex.org/W1986956003","https://openalex.org/W1990306224","https://openalex.org/W1999603379","https://openalex.org/W2007986987","https://openalex.org/W2021920479","https://openalex.org/W2023746688","https://openalex.org/W2029471191","https://openalex.org/W2034013604","https://openalex.org/W2037180941","https://openalex.org/W2038413203","https://openalex.org/W2044634413","https://openalex.org/W2051435930","https://openalex.org/W2053152186","https://openalex.org/W2061642289","https://openalex.org/W2071254108","https://openalex.org/W2076657480","https://openalex.org/W2099930383","https://openalex.org/W2099971309","https://openalex.org/W2100034730","https://openalex.org/W2105427387","https://openalex.org/W2113764179","https://openalex.org/W2130193622","https://openalex.org/W2150084185","https://openalex.org/W2150403964","https://openalex.org/W2168582925","https://openalex.org/W2202334196","https://openalex.org/W2572233504","https://openalex.org/W2901934622","https://openalex.org/W4205407880","https://openalex.org/W6631702740"],"related_works":["https://openalex.org/W2887924567","https://openalex.org/W2055051441","https://openalex.org/W2099930383","https://openalex.org/W7165803658","https://openalex.org/W2339517137","https://openalex.org/W2760348562","https://openalex.org/W3083429625","https://openalex.org/W2782277956","https://openalex.org/W2489875625","https://openalex.org/W2558594606"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":4}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
