{"id":"https://openalex.org/W4206861473","doi":"https://doi.org/10.55133/eji.280428","title":"Clinical and immunological assessment of children with ataxia telangiectasia attending Sohag university hospital in Upper Egypt","display_name":"Clinical and immunological assessment of children with ataxia telangiectasia attending Sohag university hospital in Upper Egypt","publication_year":2021,"publication_date":"2021-10-01","ids":{"openalex":"https://openalex.org/W4206861473","doi":"https://doi.org/10.55133/eji.280428","pmid":"https://pubmed.ncbi.nlm.nih.gov/34882376"},"language":"en","primary_location":{"id":"doi:10.55133/eji.280428","doi":"https://doi.org/10.55133/eji.280428","is_oa":true,"landing_page_url":"https://doi.org/10.55133/eji.280428","pdf_url":"https://ejimmunology.org/pdf/2021-10-oct/28-Mohamed-Mokhttar.pdf","source":{"id":"https://openalex.org/S4220651809","display_name":"Egyptian journal of Immunology","issn_l":"1110-4902","issn":["1110-4902","2090-2506"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["medline","norway-1","poland-20","russia-white-list-2"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Egyptian journal of Immunology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://ejimmunology.org/pdf/2021-10-oct/28-Mohamed-Mokhttar.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5019644915","display_name":"Eman M. Fahmy","orcid":"https://orcid.org/0000-0003-2385-9638","observed_orcids":["https://orcid.org/0000-0003-2385-9638"]},"institutions":[{"id":"https://openalex.org/I97455420","display_name":"Sohag University","ror":"https://ror.org/02wgx3e98","country_code":"EG","type":"education","lineage":["https://openalex.org/I97455420"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Eman Fahmy","raw_affiliation_strings":["Department of Pediatric , Faculty of Medicine , Sohag University , Sohag , Egypt","Department of Pediatric, Faculty of Medicine, Sohag University, Sohag, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric , Faculty of Medicine , Sohag University , Sohag , Egypt","institution_ids":["https://openalex.org/I97455420"]},{"raw_affiliation_string":"Department of Pediatric, Faculty of Medicine, Sohag University, Sohag, Egypt","institution_ids":["https://openalex.org/I97455420"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110607198","display_name":"Eman Hassan Ali Salama","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I97455420","display_name":"Sohag University","ror":"https://ror.org/02wgx3e98","country_code":"EG","type":"education","lineage":["https://openalex.org/I97455420"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Eman Salama","raw_affiliation_strings":["Department of Clinical Pathology , Faculty of Medicine , Sohag University , Sohag , Egypt","Department of Clinical Pathology, Faculty of Medicine, Sohag University, Sohag, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Pathology , Faculty of Medicine , Sohag University , Sohag , Egypt","institution_ids":["https://openalex.org/I97455420"]},{"raw_affiliation_string":"Department of Clinical Pathology, Faculty of Medicine, Sohag University, Sohag, Egypt","institution_ids":["https://openalex.org/I97455420"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053492154","display_name":"Mohamed A. El\u2010Mokhtar","orcid":"https://orcid.org/0000-0003-1943-8419","observed_orcids":["https://orcid.org/0000-0003-1943-8419"]},"institutions":[{"id":"https://openalex.org/I97455420","display_name":"Sohag University","ror":"https://ror.org/02wgx3e98","country_code":"EG","type":"education","lineage":["https://openalex.org/I97455420"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Mohamed El-Mokhtar","raw_affiliation_strings":["Department of Pediatric, Faculty of Medicine, Sohag University, Sohag, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric, Faculty of Medicine, Sohag University, Sohag, Egypt","institution_ids":["https://openalex.org/I97455420"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5084305355","display_name":"Abdelrahim A. Sadek","orcid":"https://orcid.org/0000-0001-6059-0936","observed_orcids":["https://orcid.org/0000-0001-6059-0936"]},"institutions":[{"id":"https://openalex.org/I91041137","display_name":"Assiut University","ror":"https://ror.org/01jaj8n65","country_code":"EG","type":"education","lineage":["https://openalex.org/I91041137"]},{"id":"https://openalex.org/I97455420","display_name":"Sohag University","ror":"https://ror.org/02wgx3e98","country_code":"EG","type":"education","lineage":["https://openalex.org/I97455420"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"Abdelrahim Sadek","raw_affiliation_strings":["Department of Pediatric , Faculty of Medicine , Sohag University , Sohag , Egypt","Department of Medical Microbiology and Immunology, Faculty of Medicine, Assiut University, Egypt","Department of Pediatric, Faculty of Medicine, Sohag University, Sohag, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric , Faculty of Medicine , Sohag University , Sohag , Egypt","institution_ids":["https://openalex.org/I97455420"]},{"raw_affiliation_string":"Department of Medical Microbiology and Immunology, Faculty of Medicine, Assiut University, Egypt","institution_ids":["https://openalex.org/I91041137"]},{"raw_affiliation_string":"Department of Pediatric, Faculty of Medicine, Sohag University, Sohag, Egypt","institution_ids":["https://openalex.org/I97455420"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0743,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":{"value":0.34084338,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":"28","issue":"4","first_page":"272","last_page":"281"},"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/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/ataxia-telangiectasia","display_name":"ataxia telangiectasia","score":1.0},{"id":"https://openalex.org/keywords/primary-immunodeficiency","display_name":"primary immunodeficiency","score":0.9369999766349792},{"id":"https://openalex.org/keywords/atm-mutations","display_name":"ATM mutations","score":0.7379999756813049},{"id":"https://openalex.org/keywords/hypogammaglobulinemia","display_name":"hypogammaglobulinemia","score":0.9980000257492065},{"id":"https://openalex.org/keywords/recurrent-sinopulmonary-infections","display_name":"recurrent sinopulmonary infections","score":0.9419999718666077},{"id":"https://openalex.org/keywords/neurological-symptoms","display_name":"neurological symptoms","score":0.7459999918937683},{"id":"https://openalex.org/keywords/cerebellar-ataxia","display_name":"cerebellar ataxia","score":0.8830000162124634},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.7829999923706055},{"id":"https://openalex.org/keywords/children","display_name":"children","score":0.5299999713897705}],"concepts":[{"id":"https://openalex.org/C2779486608","wikidata":"https://www.wikidata.org/wiki/Q387082","display_name":"Ataxia-telangiectasia","level":4,"score":0.9104107618331909},{"id":"https://openalex.org/C2777805810","wikidata":"https://www.wikidata.org/wiki/Q1047559","display_name":"Hypogammaglobulinemia","level":3,"score":0.8425854444503784},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8380651473999023},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5953183770179749},{"id":"https://openalex.org/C2776330896","wikidata":"https://www.wikidata.org/wiki/Q1634800","display_name":"Telangiectasia","level":2,"score":0.5186223387718201},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.5129358768463135},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.42666053771972656},{"id":"https://openalex.org/C2779399171","wikidata":"https://www.wikidata.org/wiki/Q1483951","display_name":"Malignancy","level":2,"score":0.4244949221611023},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.2940502166748047},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.29149430990219116},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.20700156688690186},{"id":"https://openalex.org/C159654299","wikidata":"https://www.wikidata.org/wiki/Q79460","display_name":"Antibody","level":2,"score":0.20033180713653564},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.0},{"id":"https://openalex.org/C143425029","wikidata":"https://www.wikidata.org/wiki/Q5205747","display_name":"DNA damage","level":3,"score":0.0},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.0},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D001260","descriptor_name":"Ataxia Telangiectasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001260","descriptor_name":"Ataxia Telangiectasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001260","descriptor_name":"Ataxia Telangiectasia","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":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003430","descriptor_name":"Cross-Sectional Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003430","descriptor_name":"Cross-Sectional Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003430","descriptor_name":"Cross-Sectional Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004534","descriptor_name":"Egypt","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D004534","descriptor_name":"Egypt","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D004534","descriptor_name":"Egypt","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D006785","descriptor_name":"Hospitals, University","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006785","descriptor_name":"Hospitals, University","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006785","descriptor_name":"Hospitals, University","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":"D006801","descriptor_name":"Humans","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D064007","descriptor_name":"Ataxia Telangiectasia Mutated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D064007","descriptor_name":"Ataxia Telangiectasia Mutated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D064007","descriptor_name":"Ataxia Telangiectasia Mutated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.55133/eji.280428","doi":"https://doi.org/10.55133/eji.280428","is_oa":true,"landing_page_url":"https://doi.org/10.55133/eji.280428","pdf_url":"https://ejimmunology.org/pdf/2021-10-oct/28-Mohamed-Mokhttar.pdf","source":{"id":"https://openalex.org/S4220651809","display_name":"Egyptian journal of Immunology","issn_l":"1110-4902","issn":["1110-4902","2090-2506"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["medline","norway-1","poland-20","russia-white-list-2"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Egyptian journal of Immunology","raw_type":"journal-article"},{"id":"pmid:34882376","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34882376","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":"The Egyptian journal of immunology","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.55133/eji.280428","doi":"https://doi.org/10.55133/eji.280428","is_oa":true,"landing_page_url":"https://doi.org/10.55133/eji.280428","pdf_url":"https://ejimmunology.org/pdf/2021-10-oct/28-Mohamed-Mokhttar.pdf","source":{"id":"https://openalex.org/S4220651809","display_name":"Egyptian journal of Immunology","issn_l":"1110-4902","issn":["1110-4902","2090-2506"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["medline","norway-1","poland-20","russia-white-list-2"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Egyptian journal of Immunology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.7900000214576721}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4206861473.pdf","grobid_xml":"https://content.openalex.org/works/W4206861473.grobid-xml"},"referenced_works_count":22,"referenced_works":["https://openalex.org/W70468582","https://openalex.org/W164752722","https://openalex.org/W1538505232","https://openalex.org/W1562772802","https://openalex.org/W1564315948","https://openalex.org/W1958582880","https://openalex.org/W1976231348","https://openalex.org/W1977289939","https://openalex.org/W1990197342","https://openalex.org/W1997673835","https://openalex.org/W2013473088","https://openalex.org/W2016057531","https://openalex.org/W2033415157","https://openalex.org/W2079052854","https://openalex.org/W2082444880","https://openalex.org/W2166496619","https://openalex.org/W2171476916","https://openalex.org/W2273693112","https://openalex.org/W2585493024","https://openalex.org/W2799696340","https://openalex.org/W4251572429","https://openalex.org/W6819657938"],"related_works":["https://openalex.org/W2088669070","https://openalex.org/W2011720472","https://openalex.org/W1557367249","https://openalex.org/W2342657771","https://openalex.org/W4385659216","https://openalex.org/W1970398568","https://openalex.org/W2247723404","https://openalex.org/W2064186788","https://openalex.org/W3103162590","https://openalex.org/W2130449583"],"abstract_inverted_index":{"Ataxia":[0],"Telangiectasia":[1],"(AT)":[2],"is":[3,27],"a":[4,41,75],"very":[5],"rare":[6],"autosomal":[7],"recessive":[8],"primary":[9],"immune":[10,118],"deficiency":[11,119,127],"(PID)":[12],"disease":[13],"that":[14],"affects":[15],"1":[16],"in":[17,23,32,51,54,120,151],"10,000-40,000":[18],"new":[19],"births":[20],"per":[21],"year":[22],"the":[24,59,83,97,110,142,157,181,184],"world.":[25],"It":[26],"caused":[28],"by":[29,40,130,167],"biallelic":[30],"mutations":[31],"ataxia":[33],"telangiectasia":[34],"mutated":[35],"(ATM)":[36],"gene":[37],"and":[38,62,85,162,170],"characterized":[39],"progressive":[42],"cerebellar":[43],"ataxia.":[44],"The":[45,112,146],"clinical":[46,60],"profile":[47],"of":[48,65,99,105,116,139,174,183],"AT":[49,68,80,102,123],"children":[50],"Upper":[52],"Egypt":[53],"missing.":[55],"Herein,":[56],"we":[57],"evaluated":[58],"characteristics":[61],"immunological":[63,144],"profiles":[64],"patients":[66,81,108,121,176],"with":[67,122,136],"attending":[69,82,109],"Sohag":[70,90],"University":[71,91],"Hospital.":[72],"This":[73],"was":[74,124,141],"cross-sectional":[76],"study,":[77],"included":[78],"21":[79],"Neurological":[84],"Immunological":[86],"Units,":[87],"Pediatric":[88],"Department,":[89],"Hospital,":[92],"starting":[93],"April":[94],"2018":[95],"to":[96],"end":[98,182],"March":[100],"2019.":[101],"represented":[103],"20.5%":[104],"all":[106],"PID":[107],"hospital.":[111],"most":[113,147],"common":[114,143,148],"type":[115],"humoral":[117],"specific":[125],"IgA":[126],"(52.3%)":[128],"followed":[129,166],"hypogammaglobulinemia":[131],"(23.8%).":[132],"Recurrent":[133],"sinopulmonary":[134],"infection":[135],"different":[137],"degrees":[138],"severity":[140],"problem.":[145],"neurological":[149],"manifestations":[150],"our":[152,175],"studied":[153],"patients,":[154],"other":[155],"than":[156],"ataxia,":[158],"were":[159],"language":[160],"delay":[161,169],"eye":[163],"movement":[164],"abnormalities":[165],"developmental":[168],"head":[171],"nodding.":[172],"None":[173],"had":[177],"developed":[178],"malignancy":[179],"till":[180],"study.":[185]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1}],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2025-10-10T00:00:00"}
