{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T16:09:18Z","timestamp":1786118958885,"version":"build-2736575974"},"reference-count":50,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,12]]},"DOI":"10.1097\/aci.0b013e328314b63b","type":"journal-article","created":{"date-parts":[[2008,10,30]],"date-time":"2008-10-30T03:10:08Z","timestamp":1225336208000},"page":"540-546","source":"Crossref","is-referenced-by-count":11,"title":["New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicals"],"prefix":"10.1097","volume":"8","author":[{"given":"Hailiang","family":"Hu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A","family":"Gatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-8-20210128","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1016\/j.immuni.2007.11.012","article-title":"Human primary immunodeficiency diseases","volume":"27","author":"Fischer","year":"2007","journal-title":"Immunity"},{"key":"R2-8-20210128","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1038\/nri2195","article-title":"Immunological and genetic bases of new primary immunodeficiencies","volume":"7","author":"Marodi","year":"2007","journal-title":"Nat Rev Immunol"},{"key":"R3-8-20210128","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1016\/j.jaci.2007.08.053","article-title":"Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee","volume":"120","author":"Geha","year":"2007","journal-title":"J Allergy Clin Immunol"},{"key":"R4-8-20210128","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1007\/s12026-007-0003-5","article-title":"Safety of IGIV therapy and infusion-related adverse events","volume":"38","author":"Ballow","year":"2007","journal-title":"Immunol Res"},{"key":"R5-8-20210128","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1016\/S0140-6736(68)92673-1","article-title":"Immunological reconstitution of sex-linked lymphopenic immunological deficiency","volume":"2","author":"Gatti","year":"1968","journal-title":"Lancet"},{"key":"R6-8-20210128","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1097\/01.all.0000246616.47708.2f","article-title":"Stem cell transplantation in primary immunodeficiencies","volume":"6","author":"Notarangelo","year":"2006","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"R7-8-20210128","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/sj.bmt.1705890","article-title":"Hematopoietic stem cell transplantation for primary immunodeficiency disease","volume":"41","author":"Dvorak","year":"2008","journal-title":"Bone Marrow Transplant"},{"key":"R8-8-20210128","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1097\/00130832-200412000-00008","article-title":"Perspectives of gene therapy for primary immunodeficiencies","volume":"4","author":"Chinen","year":"2004","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"R9-8-20210128","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1038\/sj.gt.3303033","article-title":"Progress and prospects: gene therapy clinical trials (part 2)","volume":"14","author":"Aiuti","year":"2007","journal-title":"Gene Ther"},{"key":"R10-8-20210128","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1126\/science.1088547","article-title":"LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1","volume":"302","author":"Hacein-Bey-Abina","year":"2003","journal-title":"Science"},{"key":"R11-8-20210128","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1172\/JCI34371","article-title":"High incidence of leukemia in large animals after stem cell gene therapy with a HOXB4-expressing retroviral vector","volume":"118","author":"Zhang","year":"2008","journal-title":"J Clin Invest"},{"issue":"Suppl 2","key":"R13-8-20210128","doi-asserted-by":"crossref","first-page":"S13","DOI":"10.1186\/1471-2105-9-S2-S13","article-title":"SNPLims: a data management system for genome wide association studies","volume":"9","author":"Orro","year":"2008","journal-title":"BMC Bioinformatics"},{"key":"R14-8-20210128","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1097\/ACI.0b013e3282f2162c","article-title":"Primary immunodeficiency registries","volume":"7","author":"Knerr","year":"2007","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"R15-8-20210128","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/j.ejmg.2006.04.003","article-title":"Translational readthrough induction of pathogenic nonsense mutations","volume":"49","author":"Kellermayer","year":"2006","journal-title":"Eur J Med Genet"},{"key":"R16-8-20210128","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/sj.clpt.6100012","article-title":"Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy","volume":"81","author":"Zingman","year":"2007","journal-title":"Clin Pharmacol Ther"},{"key":"R17-8-20210128","doi-asserted-by":"crossref","first-page":"6265","DOI":"10.1093\/nar\/13.17.6265","article-title":"Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin","volume":"13","author":"Burke","year":"1985","journal-title":"Nucleic Acids Res"},{"key":"R18-8-20210128","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1056\/NEJMoa022170","article-title":"Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations","volume":"349","author":"Wilschanski","year":"2003","journal-title":"N Engl J Med"},{"key":"R19-8-20210128","first-page":"15","article-title":"Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results","volume":"22","author":"Politano","year":"2003","journal-title":"Acta Myol"},{"key":"R20-8-20210128","doi-asserted-by":"crossref","first-page":"3043","DOI":"10.1182\/blood-2005-03-1307","article-title":"Aminoglycoside suppression of nonsense mutations in severe hemophilia","volume":"106","author":"James","year":"2005","journal-title":"Blood"},{"key":"R21-8-20210128","doi-asserted-by":"crossref","first-page":"15676","DOI":"10.1073\/pnas.0405155101","article-title":"Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons","volume":"101","author":"Lai","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R22-8-20210128","doi-asserted-by":"crossref","first-page":"6310","DOI":"10.1016\/j.bmcl.2006.09.013","article-title":"Redesign of aminoglycosides for treatment of human genetic diseases caused by premature stop mutations","volume":"16","author":"Nudelman","year":"2006","journal-title":"Bioorg Med Chem Lett"},{"key":"R23-8-20210128","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/nature05756","article-title":"PTC124 targets genetic disorders caused by nonsense mutations","volume":"447","author":"Welch","year":"2007","journal-title":"Nature"},{"key":"R24-8-20210128","doi-asserted-by":"crossref","first-page":"2064","DOI":"10.1073\/pnas.0711795105","article-title":"PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model","volume":"105","author":"Du","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R25-8-20210128","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.mrfmmm.2008.01.002","article-title":"Rapid screen for truncating ATM mutations by PTT-ELISA","volume":"640","author":"Du","year":"2008","journal-title":"Mutat Res"},{"key":"R26-8-20210128","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1172\/JCI28523","article-title":"Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin","volume":"117","author":"Linde","year":"2007","journal-title":"J Clin Invest"},{"key":"R27-8-20210128","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1038\/ng1403","article-title":"Nonsense-mediated decay approaches the clinic","volume":"36","author":"Holbrook","year":"2004","journal-title":"Nat Genet"},{"key":"R28-8-20210128","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1007\/s00018-003-3042-7","article-title":"Antisense-mediated redirection of mRNA splicing","volume":"60","author":"Vacek","year":"2003","journal-title":"Cell Mol Life Sci"},{"key":"R29-8-20210128","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1002\/humu.10295","article-title":"Nonclassical splicing mutations in the coding and noncoding regions of the ATM gene: maximum entropy estimates of splice junction strengths","volume":"23","author":"Eng","year":"2004","journal-title":"Hum Mutat"},{"key":"R30-8-20210128","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1086\/301948","article-title":"A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families","volume":"63","author":"Burrows","year":"1998","journal-title":"Am J Hum Genet"},{"key":"R31-8-20210128","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1002\/humu.9287","article-title":"A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal premRNA splicing in Niemann-Pick type C disease","volume":"24","author":"Di Leo","year":"2004","journal-title":"Hum Mutat"},{"key":"R32-8-20210128","doi-asserted-by":"crossref","first-page":"6007","DOI":"10.1073\/pnas.0608616104","article-title":"Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides","volume":"104","author":"Du","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R33-8-20210128","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.jim.2007.06.009","article-title":"Arginine-rich cell-penetrating peptides facilitate delivery of antisense oligomers into murine leukocytes and alter premRNA splicing","volume":"325","author":"Marshall","year":"2007","journal-title":"J Immunol Methods"},{"key":"R34-8-20210128","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1038\/nature05901","article-title":"Transvascular delivery of small interfering RNA to the central nervous system","volume":"448","author":"Kumar","year":"2007","journal-title":"Nature"},{"key":"R35-8-20210128","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/j.ymgme.2003.09.008","article-title":"Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression","volume":"80","author":"Chun","year":"2003","journal-title":"Mol Genet Metab"},{"key":"R36-8-20210128","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/s12026-007-0018-y","article-title":"Immunodeficiency, radiosensitivity, and the XCIND syndrome","volume":"38","author":"Gatti","year":"2007","journal-title":"Immunol Res"},{"key":"R37-8-20210128","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1038\/nature03556","article-title":"Highly efficient endogenous human gene correction using designed zinc-finger nucleases","volume":"435","author":"Urnov","year":"2005","journal-title":"Nature"},{"key":"R38-8-20210128","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1038\/nbt1319","article-title":"An improved zinc-finger nuclease architecture for highly specific genome editing","volume":"25","author":"Miller","year":"2007","journal-title":"Nat Biotechnol"},{"key":"R39-8-20210128","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.1038\/nbt1353","article-title":"Gene editing in human stem cells using zinc finger nucleases and integrase-defective lentiviral vector delivery","volume":"25","author":"Lombardo","year":"2007","journal-title":"Nat Biotechnol"},{"key":"R40-8-20210128","doi-asserted-by":"crossref","first-page":"2677","DOI":"10.1056\/NEJMoa073108","article-title":"Local dystrophin restoration with antisense oligonucleotide PRO051","volume":"357","author":"van Deutekom","year":"2007","journal-title":"N Engl J Med"},{"key":"R41-8-20210128","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/s004390000447","article-title":"Back mutation can produce phenotype reversion in Bloom syndrome somatic cells","volume":"108","author":"Ellis","year":"2001","journal-title":"Hum Genet"},{"key":"R42-8-20210128","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1172\/JCI15485","article-title":"Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings","volume":"111","author":"Wada","year":"2003","journal-title":"J Clin Invest"},{"key":"R43-8-20210128","doi-asserted-by":"crossref","first-page":"2099","DOI":"10.1182\/blood-2005-03-0936","article-title":"Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency","volume":"106","author":"Wada","year":"2005","journal-title":"Blood"},{"key":"R44-8-20210128","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1086\/517616","article-title":"Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype","volume":"80","author":"Kalb","year":"2007","journal-title":"Am J Hum Genet"},{"key":"R45-8-20210128","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1136\/jmg.40.10.721","article-title":"In vivo reversion to normal of inherited mutations in humans","volume":"40","author":"Hirschhorn","year":"2003","journal-title":"J Med Genet"},{"key":"R46-8-20210128","doi-asserted-by":"crossref","first-page":"2564","DOI":"10.1172\/JCI24898","article-title":"Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening","volume":"115","author":"Pedemonte","year":"2005","journal-title":"J Clin Invest"},{"key":"R47-8-20210128","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.gde.2007.04.008","article-title":"Gain-of-glycosylation mutations","volume":"17","author":"Vogt","year":"2007","journal-title":"Curr Opin Genet Dev"},{"key":"R48-8-20210128","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1038\/ng1581","article-title":"Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations","volume":"37","author":"Vogt","year":"2005","journal-title":"Nat Genet"},{"key":"R49-8-20210128","doi-asserted-by":"crossref","first-page":"387","DOI":"10.2174\/156652407780831566","article-title":"Novel perspectives on glycosylation and human disease","volume":"7","author":"Freeze","year":"2007","journal-title":"Curr Mol Med"},{"key":"R50-8-20210128","doi-asserted-by":"crossref","first-page":"517","DOI":"10.2741\/2697","article-title":"Clinical approaches in the treatment of Duchenne muscular dystrophy (DMD) using oligonucleotides","volume":"13","author":"Bertoni","year":"2008","journal-title":"Front Biosci"},{"key":"R51-8-20210128","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/j.ymthe.2006.05.017","article-title":"Efficient and persistent splice switching by systemically delivered LNA oligonucleotides in mice","volume":"14","author":"Roberts","year":"2006","journal-title":"Mol Ther"}],"container-title":["Current Opinion in Allergy &amp; Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.1097\/ACI.0b013e328314b63b","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T17:09:40Z","timestamp":1786036180000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00130832-200812000-00008"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12]]},"references-count":50,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2008]]}},"URL":"https:\/\/doi.org\/10.1097\/aci.0b013e328314b63b","relation":{},"ISSN":["1528-4050"],"issn-type":[{"value":"1528-4050","type":"print"}],"subject":[],"published":{"date-parts":[[2008,12]]}}}