{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T20:20:45Z","timestamp":1792614045296,"version":"4.5.0"},"reference-count":77,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1097\/aci.0000000000000006","type":"journal-article","created":{"date-parts":[[2013,10,12]],"date-time":"2013-10-12T00:02:05Z","timestamp":1381536125000},"page":"630-638","source":"Crossref","is-referenced-by-count":100,"title":["Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies"],"prefix":"10.1097","volume":"13","author":[{"given":"Eyal","family":"Grunebaum","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amos","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaim M.","family":"Roifman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-7-20210128","doi-asserted-by":"crossref","first-page":"2030","DOI":"10.4049\/jimmunol.132.4.2030","article-title":"Deoxyadenosine (AdR) inhibition of newly activated lymphocytes: blockade at the G0-G1 interface.","volume":"132","author":"Redelman","year":"1984","journal-title":"J Immunol"},{"key":"R2-7-20210128","doi-asserted-by":"crossref","first-page":"2197","DOI":"10.1084\/jem.191.12.2197","article-title":"Mitochondrial basis for immune deficiency: evidence from purine nucleoside phosphorylase-deficient mice.","volume":"191","author":"Arpaia","year":"2000","journal-title":"J Exp Med"},{"key":"R3-7-20210128","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1172\/JCI109058","article-title":"Deoxyguanosine triphosphate as a possible toxic metabolite in the immunodeficiency associated with purine nucleoside phosphorylase deficiency.","volume":"61","author":"Cohen","year":"1978","journal-title":"J Clin Invest"},{"key":"R4-7-20210128","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1006\/mgme.1999.2937","article-title":"Protection by various deoxynucleosides against deoxyadenosine-induced DNA damage in adenosine deaminase-inactivated lymphocytes.","volume":"68","author":"Shimoyama","year":"1999","journal-title":"Mol Genet Metab"},{"key":"R5-7-20210128","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1172\/JCI4320","article-title":"Nucleotide pool imbalance and adenosine deaminase deficiency induce alterations of N-region insertions during V(D)J recombination.","volume":"103","author":"Gangi-Peterson","year":"1999","journal-title":"J Clin Invest"},{"key":"R6-7-20210128","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1016\/S0140-6736(72)92345-8","article-title":"Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity.","volume":"2","author":"Giblett","year":"1972","journal-title":"Lancet"},{"key":"R7-7-20210128","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1016\/S0140-6736(75)91950-9","article-title":"Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity.","volume":"1","author":"Giblett","year":"1975","journal-title":"Lancet"},{"key":"R8-7-20210128","doi-asserted-by":"crossref","first-page":"2081","DOI":"10.1093\/hmg\/4.11.2081","article-title":"Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.","volume":"4","author":"Santisteban","year":"1995","journal-title":"Hum Mol Genet"},{"issue":"Pt 3","key":"R9-7-20210128","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1111\/j.1469-1809.2006.00338.x","article-title":"Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry.","volume":"71","author":"Sanchez","year":"2007","journal-title":"Ann Hum Genet"},{"key":"R10-7-20210128","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1080\/15257770.2011.630852","article-title":"Purine nucleoside phosphorylase deficiency: a mutation update.","volume":"30","author":"Walker","year":"2011","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"R11-7-20210128","doi-asserted-by":"crossref","first-page":"2331","DOI":"10.4049\/jimmunol.153.5.2331","article-title":"Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency.","volume":"153","author":"Shovlin","year":"1994","journal-title":"J Immunol"},{"key":"R12-7-20210128","doi-asserted-by":"crossref","first-page":"2849","DOI":"10.1182\/blood.V89.8.2849","article-title":"Adenosine deaminase deficiency in adults.","volume":"89","author":"Ozsahin","year":"1997","journal-title":"Blood"},{"key":"R13-7-20210128","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.clim.2011.05.007","article-title":"Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.","volume":"141","author":"Felgentreff","year":"2011","journal-title":"Clin Immunol"},{"key":"R14-7-20210128","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.braindev.2006.07.008","article-title":"Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency.","volume":"29","author":"Parvaneh","year":"2007","journal-title":"Brain Dev"},{"key":"R15-7-20210128","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1007\/s00431-009-1029-6","article-title":"Purine nucleoside phosphorylase deficiency with fatal course in two sisters.","volume":"169","author":"Aytekin","year":"2010","journal-title":"Eur J Pediatr"},{"key":"R16-7-20210128","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1007\/s12026-012-8380-9","article-title":"Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency.","volume":"56","author":"Somech","year":"2013","journal-title":"Immunol Res"},{"key":"R17-7-20210128","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/j.jaci.2012.03.038","article-title":"T- and B-cell defects in a novel purine nucleoside phosphorylase mutation.","volume":"130","author":"Somech","year":"2012","journal-title":"J Allergy Clin Immunol"},{"key":"R18-7-20210128","doi-asserted-by":"crossref","first-page":"7713","DOI":"10.4049\/jimmunol.1001770","article-title":"The different extent of B and T cell immune reconstitution after hematopoietic stem cell transplantation and enzyme replacement therapies in SCID patients with adenosine deaminase deficiency.","volume":"185","author":"Serana","year":"2010","journal-title":"J Immunol"},{"key":"R19-7-20210128","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1182\/blood-2009-03-211029","article-title":"Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome.","volume":"114","author":"Poliani","year":"2009","journal-title":"Blood"},{"key":"R20-7-20210128","doi-asserted-by":"crossref","first-page":"4209","DOI":"10.1182\/blood-2007-05-092429","article-title":"Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients.","volume":"111","author":"Cassani","year":"2008","journal-title":"Blood"},{"key":"R21-7-20210128","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.jim.2009.07.008","article-title":"EdU incorporation is an alternative nonradioactive assay to (3)Hthymidine uptake for in vitro measurement of mice T-cell proliferations.","volume":"350","author":"Yu","year":"2009","journal-title":"J Immunol Methods"},{"key":"R22-7-20210128","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.jaci.2012.04.029","article-title":"Defining combined immunodeficiency.","volume":"130","author":"Roifman","year":"2012","journal-title":"J Allergy Clin Immunol"},{"key":"R23-7-20210128","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1016\/j.jaci.2011.07.039","article-title":"Effects of purine nucleoside phosphorylase deficiency on thymocyte development.","volume":"128","author":"Papinazath","year":"2011","journal-title":"J Allergy Clin Immunol"},{"key":"R24-7-20210128","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/S1074-7613(02)00474-0","article-title":"Induction of T cell development from hematopoietic progenitor cells by delta-like-1 in vitro.","volume":"17","author":"Schmitt","year":"2002","journal-title":"Immunity"},{"key":"R25-7-20210128","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1016\/j.jaci.2009.07.003","article-title":"Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency.","volume":"124","author":"Somech","year":"2009","journal-title":"J Allergy Clin Immunol"},{"key":"R26-7-20210128","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1056\/NEJMoa0805817","article-title":"Gene therapy for immunodeficiency due to adenosine deaminase deficiency.","volume":"360","author":"Aiuti","year":"2009","journal-title":"N Engl J Med"},{"key":"R27-7-20210128","doi-asserted-by":"crossref","first-page":"265","DOI":"10.3389\/fimmu.2012.00265","article-title":"Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency.","volume":"3","author":"Sauer","year":"2012","journal-title":"Front Immunol"},{"key":"R28-7-20210128","doi-asserted-by":"crossref","first-page":"1428","DOI":"10.1182\/blood-2011-07-366781","article-title":"Alterations in the adenosine metabolism and CD39CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID.","volume":"119","author":"Sauer","year":"2012","journal-title":"Blood"},{"key":"R29-7-20210128","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1016\/j.jaci.2007.12.1148","article-title":"Adenosine deaminase deficiency can present with features of Omenn syndrome.","volume":"121","author":"Roifman","year":"2008","journal-title":"J Allergy Clin Immunol"},{"key":"R30-7-20210128","doi-asserted-by":"crossref","first-page":"2141","DOI":"10.1172\/JCI61788","article-title":"Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy.","volume":"122","author":"Sauer","year":"2012","journal-title":"J Clin Invest"},{"key":"R31-7-20210128","doi-asserted-by":"crossref","first-page":"3595","DOI":"10.1182\/blood-2006-07-034678","article-title":"Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications.","volume":"109","author":"Honig","year":"2007","journal-title":"Blood"},{"key":"R32-7-20210128","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1001\/jama.295.5.508","article-title":"Bone marrow transplantation for severe combined immune deficiency.","volume":"295","author":"Grunebaum","year":"2006","journal-title":"JAMA"},{"key":"R33-7-20210128","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1007\/s12185-012-1055-4","article-title":"Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis.","volume":"95","author":"Nakaoka","year":"2012","journal-title":"Int J Hematol"},{"key":"R34-7-20210128","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.pediatrneurol.2007.03.011","article-title":"Neurologic abnormalities in patients with adenosine deaminase deficiency.","volume":"37","author":"Nofech-Mozes","year":"2007","journal-title":"Pediatr Neurol"},{"key":"R35-7-20210128","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1177\/0883073807302617","article-title":"Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections.","volume":"22","author":"Ozkinay","year":"2007","journal-title":"J Child Neurol"},{"key":"R36-7-20210128","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10875-011-9593-8","article-title":"Primary immunodeficiency diseases associated with neurologic manifestations.","volume":"32","author":"Dehkordy","year":"2012","journal-title":"J Clin Immunol"},{"key":"R37-7-20210128","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.neuint.2009.12.003","article-title":"Pediatric neurological syndromes and inborn errors of purine metabolism.","volume":"56","author":"Camici","year":"2010","journal-title":"Neurochem Int"},{"key":"R38-7-20210128","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.nbd.2012.04.001","article-title":"Cerebellar abnormalities in purine nucleoside phosphorylase deficient mice.","volume":"47","author":"Mansouri","year":"2012","journal-title":"Neurobiol Dis"},{"key":"R39-7-20210128","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1007\/s10875-012-9658-3","article-title":"Noninfectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency.","volume":"32","author":"Booth","year":"2012","journal-title":"J Clin Immunol"},{"key":"R40-7-20210128","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1016\/j.jaci.2012.02.003","article-title":"Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency.","volume":"129","author":"Grunebaum","year":"2012","journal-title":"J Allergy Clin Immunol"},{"key":"R41-7-20210128","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.clim.2010.02.017","article-title":"The molecular basis of pulmonary alveolar proteinosis.","volume":"135","author":"Carey","year":"2010","journal-title":"Clin Immunol"},{"key":"R42-7-20210128","doi-asserted-by":"crossref","first-page":"5093","DOI":"10.1074\/jbc.273.9.5093","article-title":"Adenosine deaminase-deficient mice generated using a two-stage genetic engineering strategy exhibit a combined immunodeficiency.","volume":"273","author":"Blackburn","year":"1998","journal-title":"J Biol Chem"},{"key":"R43-7-20210128","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1084\/jem.192.2.159","article-title":"Metabolic consequences of adenosine deaminase deficiency in mice are associated with defects in alveogenesis, pulmonary inflammation, and airway obstruction.","volume":"192","author":"Blackburn","year":"2000","journal-title":"J Exp Med"},{"key":"R45-7-20210128","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1007\/s00247-012-2564-2","article-title":"Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life.","volume":"43","author":"Manson","year":"2013","journal-title":"Pediatr Radiol"},{"key":"R46-7-20210128","doi-asserted-by":"crossref","first-page":"3216","DOI":"10.1182\/blood-2009-03-209221","article-title":"ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKLOPG imbalance and osteoblast insufficiency.","volume":"114","author":"Sauer","year":"2009","journal-title":"Blood"},{"key":"R47-7-20210128","first-page":"143","article-title":"Primary immunodeficiencies (PIDs) presenting with cytopenias.","volume":"139-","author":"Notarangelo","year":"2009","journal-title":"Hematol Am Soc Hematol Educ Program"},{"key":"R48-7-20210128","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1203\/01.PDR.0000111286.23110.F8","article-title":"Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology.","volume":"55","author":"Dror","year":"2004","journal-title":"Pediatr Res"},{"key":"R49-7-20210128","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1002\/pbc.24353","article-title":"Neutropenia and myeloid dysplasia in a patient with delayed-onset adenosine deaminase deficiency.","volume":"60","author":"Nomura","year":"2013","journal-title":"Pediatr Blood Cancer"},{"key":"R50-7-20210128","doi-asserted-by":"crossref","first-page":"2688","DOI":"10.1182\/blood-2011-01-329359","article-title":"Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency.","volume":"118","author":"Sokolic","year":"2011","journal-title":"Blood"},{"key":"R51-7-20210128","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.jaci.2012.01.032","article-title":"Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.","volume":"129","author":"Puck","year":"2012","journal-title":"J Allergy Clin Immunol"},{"key":"R52-7-20210128","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1080\/15257771003741455","article-title":"Identification of purine nucleoside phosphorylase deficiency in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography.","volume":"29","author":"van Kuilenburg","year":"2010","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"R53-7-20210128","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1080\/15257771003741406","article-title":"Determination of adenosine deaminase activity in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography.","volume":"29","author":"van Kuilenburg","year":"2010","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"R54-7-20210128","doi-asserted-by":"crossref","first-page":"1394","DOI":"10.1016\/j.jaci.2011.03.040","article-title":"Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: a reliable and inexpensive method using tandem mass spectrometry.","volume":"127","author":"Azzari","year":"2011","journal-title":"J Allergy Clin Immunol"},{"key":"R55-7-20210128","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1016\/j.jaci.2012.08.054","article-title":"Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.","volume":"131","author":"la Marca","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"R56-7-20210128","doi-asserted-by":"crossref","first-page":"3615","DOI":"10.1182\/blood-2011-12-396879","article-title":"Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.","volume":"120","author":"Hassan","year":"2012","journal-title":"Blood"},{"key":"R57-7-20210128","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1126\/scitranslmed.3002716","article-title":"Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction.","volume":"3","author":"Gaspar","year":"2011","journal-title":"Sci Transl Med"},{"key":"R58-7-20210128","doi-asserted-by":"crossref","first-page":"3677","DOI":"10.1182\/blood-2012-02-408591","article-title":"Gene therapybone marrow transplantation in ADA-deficient mice: roles of enzyme-replacement therapy and cytoreduction.","volume":"120","author":"Carbonaro","year":"2012","journal-title":"Blood"},{"key":"R59-7-20210128","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1111\/j.1399-3046.2007.00772.x","article-title":"Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency.","volume":"11","author":"Delicou","year":"2007","journal-title":"Pediatr Transplant"},{"key":"R60-7-20210128","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1111\/j.1399-3046.2007.00890.x","article-title":"An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication.","volume":"12","author":"Aytekin","year":"2008","journal-title":"Pediatr Transplant"},{"key":"R61-7-20210128","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/8904_2012_126","article-title":"Cross correction following haemopoietic stem cell transplant for purine nucleoside phosphorylase deficiency: engrafted donor-derived white blood cells provide enzyme to residual enzyme-deficient recipient cells.","volume":"6","author":"Singh","year":"2012","journal-title":"JIMD Rep"},{"key":"R62-7-20210128","doi-asserted-by":"crossref","first-page":"3635","DOI":"10.1182\/blood-2012-02-400937","article-title":"Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.","volume":"120","author":"Candotti","year":"2012","journal-title":"Blood"},{"key":"R63-7-20210128","doi-asserted-by":"crossref","first-page":"2410","DOI":"10.1126\/science.1070104","article-title":"Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning.","volume":"296","author":"Aiuti","year":"2002","journal-title":"Science"},{"key":"R64-7-20210128","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.gene.2013.03.092","article-title":"Gene therapy of primary T cell immunodeficiencies.","volume":"525","author":"Fischer","year":"2013","journal-title":"Gene"},{"key":"R65-7-20210128","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1016\/j.jaci.2011.10.028","article-title":"Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency.","volume":"129","author":"Kesserwan","year":"2012","journal-title":"J Allergy Clin Immunol"},{"key":"R66-7-20210128","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1016\/j.jaci.2011.04.014","article-title":"Purine metabolism, immune reconstitution, and abdominal adipose tumor after gene therapy for adenosine deaminase deficiency.","volume":"127","author":"Grunebaum","year":"2011","journal-title":"J Allergy Clin Immunol"},{"key":"R67-7-20210128","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1038\/mt.2012.50","article-title":"The -globin locus control region in combination with the EF1 short promoter allows enhanced lentiviral vector-mediated erythroid gene expression with conserved multilineage activity.","volume":"20","author":"Montiel-Equihua","year":"2012","journal-title":"Mol Ther"},{"key":"R68-7-20210128","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1002\/jgm.1261","article-title":"Lentivirus gene therapy for purine nucleoside phosphorylase deficiency.","volume":"10","author":"Liao","year":"2008","journal-title":"J Gene Med"},{"key":"R69-7-20210128","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1056\/NEJM198010233031705","article-title":"Purine nucleoside phosphorylase deficiency: improved metabolic and immunologic function with erythrocyte transfusions.","volume":"303","author":"Rich","year":"1980","journal-title":"N Engl J Med"},{"key":"R70-7-20210128","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1056\/NEJM198703053161005","article-title":"Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase.","volume":"316","author":"Hershfield","year":"1987","journal-title":"N Engl J Med"},{"key":"R71-7-20210128","first-page":"349","article-title":"Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID).","volume":"3","author":"Booth","year":"2009","journal-title":"Biologics"},{"key":"R72-7-20210128","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.jpeds.2007.03.059","article-title":"Burkitts lymphoma in a patient with adenosine deaminase deficiency-severe combined immunodeficiency treated with polyethylene glycol-adenosine deaminase.","volume":"151","author":"Husain","year":"2007","journal-title":"J Pediatr"},{"key":"R73-7-20210128","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1016\/0092-8674(88)90263-2","article-title":"Cellular uptake of the tat protein from human immunodeficiency virus.","volume":"55","author":"Frankel","year":"1988","journal-title":"Cell"},{"key":"R74-7-20210128","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1016\/0092-8674(88)90262-0","article-title":"Autonomous functional domains of chemically synthesized human immunodeficiency virus tat trans-activator protein.","volume":"55","author":"Green","year":"1988","journal-title":"Cell"},{"key":"R75-7-20210128","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.cellimm.2006.07.003","article-title":"Intracellular delivery of purine nucleoside phosphorylase (PNP) fused to protein transduction domain corrects PNP deficiency in vitro.","volume":"240","author":"Toro","year":"2006","journal-title":"Cell Immunol"},{"key":"R76-7-20210128","doi-asserted-by":"crossref","first-page":"2717","DOI":"10.1172\/JCI25052","article-title":"TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice.","volume":"116","author":"Toro","year":"2006","journal-title":"J Clin Invest"},{"key":"R77-7-20210128","doi-asserted-by":"crossref","first-page":"8373","DOI":"10.1073\/pnas.92.18.8373","article-title":"Cohen A. p53 expression is required for thymocyte apoptosis induced by adenosine deaminase deficiency.","volume":"92","author":"Benveniste","year":"1995","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R78-7-20210128","doi-asserted-by":"crossref","first-page":"8153","DOI":"10.4049\/jimmunol.181.11.8153","article-title":"Restoration of adenosine deaminase-deficient human thymocyte development in vitro by inhibition of deoxynucleoside kinases.","volume":"181","author":"Joachims","year":"2008","journal-title":"J Immunol"}],"container-title":["Current Opinion in Allergy & Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/ACI.0000000000000006","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,18]],"date-time":"2024-05-18T16:39:48Z","timestamp":1716050388000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00130832-201312000-00007"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":77,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013]]}},"URL":"https:\/\/doi.org\/10.1097\/aci.0000000000000006","relation":{},"ISSN":["1528-4050"],"issn-type":[{"value":"1528-4050","type":"print"}],"subject":[],"published":{"date-parts":[[2013,12]]}}}