{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T03:27:28Z","timestamp":1789442848981,"version":"build-2803163510"},"reference-count":23,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2009,12,1]],"date-time":"2009-12-01T00:00:00Z","timestamp":1259625600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Immunology"],"published-print":{"date-parts":[[2009,12]]},"DOI":"10.1016\/j.clim.2009.08.006","type":"journal-article","created":{"date-parts":[[2009,9,10]],"date-time":"2009-09-10T06:15:01Z","timestamp":1252563301000},"page":"287-294","source":"Crossref","is-referenced-by-count":51,"title":["Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter"],"prefix":"10.1016","volume":"133","author":[{"given":"Arturo","family":"Borzutzky","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Crompton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anke K.","family":"Bergmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Giliani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sachin","family":"Baxi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madelena","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellis J.","family":"Neufeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi D.","family":"Notarangelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.clim.2009.08.006_bib1","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1096\/fasebj.12.14.1491","article-title":"DNA instability (strand breakage, uracil misincorporation, and defective repair) is increased by folic acid depletion in human lymphocytes in vitro","volume":"12","author":"Duthie","year":"1998","journal-title":"FASEB J."},{"key":"10.1016\/j.clim.2009.08.006_bib2","doi-asserted-by":"crossref","first-page":"C65","DOI":"10.1152\/ajprenal.00194.2004","article-title":"Preservation of folate transport activity with a low-pH optimum in rat IEC-6 intestinal epithelial cell lines that lack reduced folate carrier function","volume":"288","author":"Wang","year":"2005","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"10.1016\/j.clim.2009.08.006_bib3","doi-asserted-by":"crossref","first-page":"1494","DOI":"10.1111\/j.1471-4159.2007.05095.x","article-title":"Characterization of folate uptake by choroid plexus epithelial cells in a rat primary culture model","volume":"104","author":"Wollack","year":"2008","journal-title":"J. Neurochem."},{"key":"10.1016\/j.clim.2009.08.006_bib4","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1016\/j.cell.2006.09.041","article-title":"Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption","volume":"127","author":"Qiu","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.clim.2009.08.006_bib5","doi-asserted-by":"crossref","first-page":"2055","DOI":"10.1182\/blood-2008-04-150276","article-title":"A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function","volume":"112","author":"Lasry","year":"2008","journal-title":"Blood"},{"key":"10.1016\/j.clim.2009.08.006_bib6","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1182\/blood-2007-02-077099","article-title":"The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption","volume":"110","author":"Zhao","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.clim.2009.08.006_bib7","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/j.1365-2141.2006.06133.x","article-title":"Acquired and inherited disorders of cobalamin and folate in children","volume":"134","author":"Whitehead","year":"2006","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.clim.2009.08.006_bib8","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1542\/peds.104.5.1133","article-title":"Isolated congenital malabsorption of folic acid in a male infant: insights into treatment and mechanism of defect","volume":"104","author":"Malatack","year":"1999","journal-title":"Pediatrics"},{"key":"10.1016\/j.clim.2009.08.006_bib9","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1097\/00005792-200201000-00004","article-title":"Hereditary folate malabsorption: family report and review of the literature","volume":"81","author":"Geller","year":"2002","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.clim.2009.08.006_bib10","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.clim.2008.11.003","article-title":"Analysis of in vitro lymphocyte proliferation as a screening tool for cellular immunodeficiency","volume":"131","author":"Stone","year":"2009","journal-title":"Clin. Immunol."},{"key":"10.1016\/j.clim.2009.08.006_bib11","doi-asserted-by":"crossref","first-page":"2049","DOI":"10.1038\/nprot.2007.296","article-title":"Monitoring lymphocyte proliferation in vitro and in vivo with the intracellular fluorescent dye carboxyfluorescein diacetate succinimidyl ester","volume":"2","author":"Quah","year":"2007","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.clim.2009.08.006_bib12","doi-asserted-by":"crossref","first-page":"3186","DOI":"10.4049\/jimmunol.173.5.3186","article-title":"Folate deficiency inhibits the proliferation of primary human CD8+ T lymphocytes in vitro","volume":"173","author":"Courtemanche","year":"2004","journal-title":"J. Immunol."},{"key":"10.1016\/j.clim.2009.08.006_bib13","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1096\/fj.03-0382fje","article-title":"Folate deficiency and ionizing radiation cause DNA breaks in primary human lymphocytes: a comparison","volume":"18","author":"Courtemanche","year":"2004","journal-title":"FASEB J."},{"key":"10.1016\/j.clim.2009.08.006_bib14","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1177\/0883073807304004","article-title":"Neurological manifestations of folate transport defect: case report and review of the literature","volume":"22","author":"Sofer","year":"2007","journal-title":"J. Child. Neurol."},{"key":"10.1016\/j.clim.2009.08.006_bib15","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1007\/BF00442302","article-title":"Congenital folate malabsorption","volume":"143","author":"Corbeel","year":"1985","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.clim.2009.08.006_bib16","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1136\/adc.62.1.78","article-title":"Congenital isolated folic acid malabsorption","volume":"62","author":"Urbach","year":"1987","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.clim.2009.08.006_bib17","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1093\/infdis\/170.4.912","article-title":"Adjunctive folinic acid with trimethoprim-sulfamethoxazole for Pneumocystis carinii pneumonia in AIDS patients is associated with an increased risk of therapeutic failure and death","volume":"170","author":"Safrin","year":"1994","journal-title":"J. Infect. Dis."},{"key":"10.1016\/j.clim.2009.08.006_bib18","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1179\/joc.2004.16.1.3","article-title":"Antimicrobial dihydrofolate reductase inhibitors\u2014achievements and future options: review","volume":"16","author":"Then","year":"2004","journal-title":"J. Chemother."},{"key":"10.1016\/j.clim.2009.08.006_bib19","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1023\/A:1012905823879","article-title":"A family study of congenital malabsorption of folate","volume":"24","author":"Jebnoun","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.clim.2009.08.006_bib20","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/S0022-3476(81)80541-0","article-title":"Therapy of congenital folate malabsorption","volume":"98","author":"Poncz","year":"1981","journal-title":"J. Pediatr."},{"key":"10.1016\/j.clim.2009.08.006_bib21","doi-asserted-by":"crossref","first-page":"2111","DOI":"10.1001\/archinte.142.12.2111","article-title":"Masked megaloblastic anemia","volume":"142","author":"Spivak","year":"1982","journal-title":"Arch. Intern. Med."},{"key":"10.1016\/j.clim.2009.08.006_bib22","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/j.jpeds.2008.04.009","article-title":"The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption","volume":"153","author":"Min","year":"2008","journal-title":"J. Pediatr."},{"key":"10.1016\/j.clim.2009.08.006_bib23","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1016\/0002-9343(70)90007-0","article-title":"Congenital malabsorption of folate","volume":"48","author":"Lanzkowsky","year":"1970","journal-title":"Am. J. Med."}],"container-title":["Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661609007670?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661609007670?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,5,22]],"date-time":"2019-05-22T09:35:43Z","timestamp":1558517743000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521661609007670"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,12]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["S1521661609007670"],"URL":"https:\/\/doi.org\/10.1016\/j.clim.2009.08.006","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.3862958.3600056","asserted-by":"object"}]},"ISSN":["1521-6616"],"issn-type":[{"value":"1521-6616","type":"print"}],"subject":[],"published":{"date-parts":[[2009,12]]}}}