{"id":"https://openalex.org/W4388176993","doi":"https://doi.org/10.1093/oso/9780195147742.003.0012","title":"Immunodeficiency Due to Defects of Purine Metabolism","display_name":"Immunodeficiency Due to Defects of Purine Metabolism","publication_year":2006,"publication_date":"2006-08-24","ids":{"openalex":"https://openalex.org/W4388176993","doi":"https://doi.org/10.1093/oso/9780195147742.003.0012"},"language":"en","primary_location":{"id":"doi:10.1093/oso/9780195147742.003.0012","doi":"https://doi.org/10.1093/oso/9780195147742.003.0012","is_oa":false,"landing_page_url":"https://doi.org/10.1093/oso/9780195147742.003.0012","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Primary Immunodeficiency Diseases","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W4388176947","display_name":"Primary Immunodeficiency Diseases"},"type":"book-chapter","indexed_in":["crossref"],"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/A5113695897","display_name":"Rochelle Hirschhorn","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rochelle Hirschhorn","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5062385004","display_name":"Fabio Candotti","orcid":"https://orcid.org/0000-0001-6399-6042","observed_orcids":["https://orcid.org/0000-0001-6399-6042"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Fabio Candotti","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.6571,"has_fulltext":false,"cited_by_count":21,"citation_normalized_percentile":{"value":0.90975404,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":null,"issue":null,"first_page":"169","last_page":"196"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12827","display_name":"Biochemical and Molecular Research","score":0.7660999894142151,"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"}},"topics":[{"id":"https://openalex.org/T12827","display_name":"Biochemical and Molecular Research","score":0.7660999894142151,"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"}},{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.22910000383853912,"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":0.0010999999940395355,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/severe-combined-immunodeficiency","display_name":"severe combined immunodeficiency","score":0.8920000195503235},{"id":"https://openalex.org/keywords/adenosine-deaminase-deficiency","display_name":"adenosine deaminase deficiency","score":0.9800000190734863},{"id":"https://openalex.org/keywords/purine-nucleoside-phosphorylase-deficiency","display_name":"purine nucleoside phosphorylase deficiency","score":0.9760000109672546},{"id":"https://openalex.org/keywords/purine-salvage-pathway","display_name":"purine salvage pathway","score":0.9950000047683716},{"id":"https://openalex.org/keywords/purine-metabolism-disorders","display_name":"purine metabolism disorders","score":0.7870000004768372},{"id":"https://openalex.org/keywords/lymphocyte-metabolism","display_name":"lymphocyte metabolism","score":0.4959999918937683},{"id":"https://openalex.org/keywords/antileukemic-agents","display_name":"antileukemic agents","score":0.9610000252723694}],"concepts":[{"id":"https://openalex.org/C71615608","wikidata":"https://www.wikidata.org/wiki/Q24720082","display_name":"Purine nucleoside phosphorylase","level":4,"score":0.9116166830062866},{"id":"https://openalex.org/C34628245","wikidata":"https://www.wikidata.org/wiki/Q356093","display_name":"Adenosine deaminase","level":3,"score":0.8366305828094482},{"id":"https://openalex.org/C194101687","wikidata":"https://www.wikidata.org/wiki/Q583813","display_name":"Nucleotide salvage","level":4,"score":0.7981462478637695},{"id":"https://openalex.org/C2781161190","wikidata":"https://www.wikidata.org/wiki/Q1055374","display_name":"Adenosine deaminase deficiency","level":4,"score":0.7242352962493896},{"id":"https://openalex.org/C2779468541","wikidata":"https://www.wikidata.org/wiki/Q1334408","display_name":"Severe combined immunodeficiency","level":3,"score":0.6959052085876465},{"id":"https://openalex.org/C2777607303","wikidata":"https://www.wikidata.org/wiki/Q641307","display_name":"Immunodeficiency","level":3,"score":0.6082513928413391},{"id":"https://openalex.org/C2776476023","wikidata":"https://www.wikidata.org/wiki/Q188261","display_name":"Purine","level":3,"score":0.5412272214889526},{"id":"https://openalex.org/C2779019163","wikidata":"https://www.wikidata.org/wiki/Q3043160","display_name":"Primary immunodeficiency","level":3,"score":0.45305293798446655},{"id":"https://openalex.org/C2910905871","wikidata":"https://www.wikidata.org/wiki/Q641307","display_name":"Immunodeficiency Syndrome","level":4,"score":0.444606214761734},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3912973701953888},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.38941726088523865},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2905450463294983},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.18834993243217468},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1325337290763855},{"id":"https://openalex.org/C512185932","wikidata":"https://www.wikidata.org/wiki/Q28745","display_name":"Nucleotide","level":3,"score":0.10722345113754272},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1093/oso/9780195147742.003.0012","doi":"https://doi.org/10.1093/oso/9780195147742.003.0012","is_oa":false,"landing_page_url":"https://doi.org/10.1093/oso/9780195147742.003.0012","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Primary Immunodeficiency Diseases","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2072814889","https://openalex.org/W2185670024","https://openalex.org/W2405910444","https://openalex.org/W2084190676","https://openalex.org/W2132406822","https://openalex.org/W7257912","https://openalex.org/W1975566955","https://openalex.org/W2149013137","https://openalex.org/W2395637352","https://openalex.org/W4250169431"],"abstract_inverted_index":{"Abstract":[0],"Genetic":[1],"deficiency":[2,51,75,95],"of":[3,18,22,31,34,50,52,76,96,167,179,195],"the":[4,12,55,81,85,177,180,191],"purine":[5,77,86,181],"salvage":[6,87,182],"enzyme":[7,83],"adenosine":[8],"deaminase":[9],"(ADA)":[10],"provides":[11],"molecular":[13],"basis":[14,56],"for":[15,57,94,184,193],"approximately":[16,29],"40%":[17],"autosomal":[19],"recessive":[20],"cases":[21,33],"severe":[23],"combined":[24],"immunodeficiency":[25,58,71,109],"(SCID)":[26],"and":[27,63,208],"therefore":[28],"20%":[30],"all":[32],"SCID":[35],"(Hirschhorn,":[36,199],"1979b;":[37],"Bertrand":[38],"et":[39,66,105,131,135,139,143,147,151,155,159,163,204],"al.,":[40,67,106,132,136,140,144,148,152,156,160,164,205],"1999;":[41,206],"Buckley,":[42],"2000).":[43],"The":[44],"identification,":[45],"over":[46],"two":[47,171],"decades":[48],"ago,":[49],"ADA":[53,117],"as":[54,187,189],"(MIM":[59,110],"#102700)":[60],"was":[61,89],"serendipitous":[62],"unexpected":[64],"(Giblett":[65,104],"1972).":[68],"By":[69],"contrast,":[70],"due":[72],"to":[73],"genetic":[74],"nucleoside":[78],"phosphorylase":[79],"(PNP),":[80],"next":[82],"in":[84,98,101,122],"pathway,":[88],"identified":[90],"by":[91],"specific":[92],"screening":[93],"enzymes":[97],"this":[99],"pathway":[100,183],"immunodeficient":[102],"patients":[103,168],"1975).":[107],"PNP":[108],"+":[111],"164050)":[112],"is":[113],"even":[114],"rarer":[115],"than":[116,124],"deficiency,":[118],"having":[119],"been":[120],"reported":[121],"fewer":[123],"30":[125],"unrelated":[126],"families":[127],"(Markert,":[128],"1991;":[129],"Carpenter":[130],"1996;":[133],"Markert":[134],"1997;":[137],"Sasaki":[138],"1998;":[141],"Dalal":[142],"2001;":[145,210],"Baguette":[146],"2002;":[149,153,157],"Moallem":[150],"Tsuda":[154],"Tabarki":[158],"2003;":[161],"Grunebaum":[162],"2004).":[165,212],"Study":[166],"with":[169],"these":[170],"disorders":[172],"has":[173],"shed":[174],"light":[175],"on":[176,190],"significance":[178],"lymphoid":[185],"cells":[186],"well":[188],"potential":[192],"development":[194],"new":[196],"antileukemic":[197],"agents":[198],"1993;":[200],"Markert,":[201],"1994;":[202],"Suetsugu":[203],"Hershfield":[207],"Mitchell,":[209],"Dillman,":[211]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":3}],"updated_date":"2026-10-10T09:11:00.788812","created_date":"2023-11-02T00:00:00"}
