{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T05:45:18Z","timestamp":1771652718794,"version":"3.50.1"},"reference-count":48,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,9]]},"DOI":"10.1097\/inf.0b013e3182936280","type":"journal-article","created":{"date-parts":[[2013,3,28]],"date-time":"2013-03-28T14:24:07Z","timestamp":1364480647000},"page":"1010-1016","source":"Crossref","is-referenced-by-count":22,"title":["Clinical Features and Genetic Analysis of Taiwanese Patients With the Hyper IgM Syndrome Phenotype"],"prefix":"10.1097","volume":"32","author":[{"given":"Wen-I","family":"Lee","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing-Long","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kuo-Wei","family":"Yeh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min-Jay","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming-Chi","family":"Lai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li-Chen","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang-Shiou","family":"Ou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsung-Chieh","family":"Yao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Syh-Jae","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tang-Her","family":"Jaing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shih-Hsiang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meng-Ying","family":"Hsieh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hsin-Hui","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin-Hsiu","family":"Chien","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shyh-Dar","family":"Shyur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-26-20210202","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1126\/science.7679801","article-title":"CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.","volume":"259","author":"Allen","year":"1993","journal-title":"Science"},{"key":"R2-26-20210202","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/0092-8674(93)90668-G","article-title":"The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome.","volume":"72","author":"Aruffo","year":"1993","journal-title":"Cell"},{"key":"R3-26-20210202","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1038\/361541a0","article-title":"CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM.","volume":"361","author":"DiSanto","year":"1993","journal-title":"Nature"},{"key":"R4-26-20210202","doi-asserted-by":"crossref","first-page":"2170","DOI":"10.1073\/pnas.90.6.2170","article-title":"Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM.","volume":"90","author":"Fuleihan","year":"1993","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R5-26-20210202","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1038\/361539a0","article-title":"Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.","volume":"361","author":"Korthauer","year":"1993","journal-title":"Nature"},{"key":"R7-26-20210202","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1097\/01.md.0000100046.06009.b0","article-title":"The X-linked hyper-IgM syndrome. Clinical and immunologic features of 79 patients.","volume":"82","author":"Winkelstein","year":"2003","journal-title":"Medicine"},{"key":"R8-26-20210202","doi-asserted-by":"crossref","first-page":"12614","DOI":"10.1073\/pnas.221456898","article-title":"Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.","volume":"98","author":"Ferrari","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R9-26-20210202","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/S0092-8674(00)00079-9","article-title":"Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).","volume":"102","author":"Revy","year":"2000","journal-title":"Cell"},{"key":"R10-26-20210202","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1006\/clim.2000.4956","article-title":"Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome.","volume":"97","author":"Minegishi","year":"2000","journal-title":"Clin Immunol"},{"key":"R11-26-20210202","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/S0952-7915(00)00206-5","article-title":"Towards an understanding of somatic hypermutation.","volume":"13","author":"Jacobs","year":"2001","journal-title":"Curr Opin Immunol"},{"key":"R12-26-20210202","doi-asserted-by":"crossref","first-page":"1748","DOI":"10.1016\/S0960-9822(02)01215-0","article-title":"Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNG-deficient mice.","volume":"12","author":"Rada","year":"2002","journal-title":"Curr Biol"},{"key":"R13-26-20210202","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1038\/ni974","article-title":"Uracil-DNA glycosylase deficiency profoundly impairs immunoglobulin class switch recombination, leading to a hyper-IgM syndrome.","volume":"10","author":"Imai","year":"2003","journal-title":"Nat Immunol"},{"key":"R14-26-20210202","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1086\/316914","article-title":"A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).","volume":"67","author":"Zonana","year":"2000","journal-title":"Am J Hum Genet"},{"key":"R15-26-20210202","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/85837","article-title":"X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.","volume":"27","author":"Doffinger","year":"2001","journal-title":"Nat Genet"},{"key":"R16-26-20210202","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/85277","article-title":"Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia.","volume":"2","author":"Jain","year":"2001","journal-title":"Nat Immunol"},{"key":"R17-26-20210202","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1172\/JCI18714","article-title":"A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.","volume":"112","author":"Courtois","year":"2003","journal-title":"J Clin Invest"},{"key":"R18-26-20210202","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1002\/humu.20740","article-title":"A novel mutation in NFKBIAIKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency.","volume":"29","author":"Lopez-Granados","year":"2008","journal-title":"Hum Mutat"},{"key":"R19-26-20210202","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1007\/s10875-005-2822-2","article-title":"Distribution and clinical aspects of primary immunodeficiencies in a Taiwan pediatric tertiary hospital during a 20-year period.","volume":"25","author":"Lee","year":"2005","journal-title":"J Clin Immunol"},{"key":"R20-26-20210202","doi-asserted-by":"crossref","first-page":"2421","DOI":"10.1182\/blood.V92.7.2421","article-title":"Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.","volume":"92","author":"Seyama","year":"1998","journal-title":"Blood"},{"key":"R21-26-20210202","doi-asserted-by":"crossref","first-page":"1881","DOI":"10.1182\/blood-2003-12-4420","article-title":"Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.","volume":"105","author":"Lee","year":"2005","journal-title":"Blood"},{"key":"R22-26-20210202","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1182\/blood.V98.5.1321","article-title":"Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome.","volume":"98","author":"Morra","year":"2001","journal-title":"Blood"},{"key":"R23-26-20210202","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/S1081-1206(10)60569-8","article-title":"Analysis of genetic defects in patients with the common variable immunodeficiency phenotype in a single Taiwanese tertiary care hospital.","volume":"99","author":"Lee","year":"2007","journal-title":"Ann Allergy Asthma Immunol"},{"key":"R24-26-20210202","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000091744","article-title":"X-linked hyper-immunoglobulin M syndrome: molecular genetic study and long-time follow-up of three generations of a Chinese family.","volume":"140","author":"Lin","year":"2006","journal-title":"Int Arch Allergy Immunol"},{"key":"R25-26-20210202","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S1081-1206(10)61194-5","article-title":"Hyper-IgM1 syndrome with interstitial pneumonia and diarrhea caused by coxsackievirus B4 in a 3-month-old infant.","volume":"95","author":"Lin","year":"2005","journal-title":"Ann Allergy Asthma Immunol"},{"key":"R26-26-20210202","first-page":"421","article-title":"Recurrent acalculous cholecystitis and sclerosing cholangitis in a patient with X-linked hyper-immunoglobulin M syndrome.","volume":"104","author":"Lin","year":"2005","journal-title":"J Formos Med Assoc"},{"key":"R27-26-20210202","first-page":"53","article-title":"De novo mutation causing X-linked hyper-IgM syndrome: a family study in Taiwan.","volume":"23","author":"Ma","year":"2005","journal-title":"Asian Pac J Allergy Immunol"},{"key":"R28-26-20210202","first-page":"334","article-title":"Hyper-IgM syndrome: report of one case.","volume":"45","author":"Ma","year":"2004","journal-title":"Acta Paediatr Taiwan"},{"key":"R29-26-20210202","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.jfma.2010.12.003","article-title":"Clinical manifestations and outcomes of pediatric chronic neutropenia.","volume":"111","author":"Wan","year":"2012","journal-title":"J Formos Med Assoc"},{"key":"R30-26-20210202","doi-asserted-by":"crossref","first-page":"e213","DOI":"10.1200\/JCO.2009.25.5067","article-title":"Child with ataxia telangiectasia developing acute myeloid leukemia.","volume":"28","author":"Lin","year":"2010","journal-title":"J Clin Oncol"},{"key":"R31-26-20210202","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/S0092-8674(00)00078-7","article-title":"Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme.","volume":"102","author":"Muramatsu","year":"2000","journal-title":"Cell"},{"key":"R32-26-20210202","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1006\/clim.1999.4725","article-title":"Common variable immunodeficiency: clinical and immunological features of 248 patients.","volume":"92","author":"Cunningham-Rundles","year":"1999","journal-title":"Clin Immunol"},{"key":"R33-26-20210202","doi-asserted-by":"crossref","first-page":"18470","DOI":"10.1074\/jbc.274.26.18470","article-title":"Specific expression of activation-induced cytidine deaminase (AID), a novel member of the RNA-editing deaminase family in germinal center B cells.","volume":"274","author":"Muramatsu","year":"1999","journal-title":"J Biol Chem"},{"key":"R34-26-20210202","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/35041599","article-title":"Cell-cycle-regulated DNA double-stranded breaks in somatic hypermutation of immunoglobulin genes.","volume":"408","author":"Papavasiliou","year":"2000","journal-title":"Nature"},{"key":"R35-26-20210202","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/35013114","article-title":"Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.","volume":"405","author":"Smahi","year":"2000","journal-title":"Nature"},{"key":"R36-26-20210202","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/nri910","article-title":"NF-kappaB regulation in the immune system.","volume":"2","author":"Li","year":"2002","journal-title":"Nat Rev Immunol"},{"key":"R37-26-20210202","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1067\/mpd.2003.41","article-title":"Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency.","volume":"142","author":"Kutukculer","year":"2003","journal-title":"J Pediatr"},{"key":"R38-26-20210202","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1097\/00005792-199611000-00001","article-title":"X-linked agammaglobulinemia: A clinical and molecular analysis.","volume":"75","author":"Ochs","year":"1996","journal-title":"Medicine"},{"key":"R39-26-20210202","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1136\/adc.2008.149351","article-title":"Ataxia-telangiectasia patients presenting with hyper-IgM syndrome.","volume":"94","author":"Noordzij","year":"2009","journal-title":"Arch Dis Child"},{"key":"R40-26-20210202","first-page":"54","article-title":"Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.","volume":"2","author":"Al-Herz","year":"2011","journal-title":"Front Immunol"},{"key":"R41-26-20210202","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1586\/eci.12.46","article-title":"Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome.","volume":"8","author":"Mahdaviani","year":"2012","journal-title":"Expert Rev Clin Immunol"},{"key":"R42-26-20210202","doi-asserted-by":"crossref","first-page":"2552","DOI":"10.1182\/blood-2011-08-371021","article-title":"Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.","volume":"119","author":"Borte","year":"2012","journal-title":"Blood"},{"key":"R43-26-20210202","doi-asserted-by":"crossref","first-page":"2404","DOI":"10.1093\/emboj\/17.8.2404","article-title":"Ku80 is required for immunoglobulin isotype switching.","volume":"17","author":"Casellas","year":"1998","journal-title":"EMBO J"},{"key":"R44-26-20210202","doi-asserted-by":"crossref","first-page":"1509","DOI":"10.1084\/jem.192.10.1509","article-title":"Somatic hypermutation in the absence of DNA-dependent protein kinase catalytic subunit (DNA-PK(cs)) or recombination-activating gene (RAG)1 activity.","volume":"192","author":"Bemark","year":"2000","journal-title":"J Exp Med"},{"key":"R45-26-20210202","doi-asserted-by":"crossref","first-page":"3484","DOI":"10.1093\/emboj\/18.12.3484","article-title":"Deficiency in Msh2 affects the efficiency and local sequence specificity of immunoglobulin class-switch recombination: parallels with somatic hypermutation.","volume":"18","author":"Ehrenstein","year":"1999","journal-title":"EMBO J"},{"key":"R46-26-20210202","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1084\/jem.191.3.579","article-title":"Somatic hypermutation in MutS homologue (MSH)3-, MSH6-, and MSH3MSH6-deficient mice reveals a role for the MSH2-MSH6 heterodimer in modulating the base substitution pattern.","volume":"191","author":"Wiesendanger","year":"2000","journal-title":"J Exp Med"},{"key":"R47-26-20210202","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1084\/jem.20011877","article-title":"Role for mismatch repair proteins Msh2, Mlh1, and Pms2 in immunoglobulin class switching shown by sequence analysis of recombination junctions.","volume":"195","author":"Schrader","year":"2002","journal-title":"J Exp Med"},{"key":"R48-26-20210202","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1084\/jem.20022190","article-title":"Mlh1 can function in antibodyclass switch recombination independently of Msh2.","volume":"197","author":"Schrader","year":"2003","journal-title":"J Exp Med"},{"key":"R49-26-20210202","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1038\/ni1031","article-title":"Altered somatic hypermutation and reduced class-switch recombination in exonuclease 1-mutant mice.","volume":"5","author":"Bardwell","year":"2004","journal-title":"Nat Immunol"}],"container-title":["Pediatric Infectious Disease Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/INF.0b013e3182936280","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,14]],"date-time":"2021-05-14T01:10:53Z","timestamp":1620954653000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00006454-201309000-00026"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9]]},"references-count":48,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2013]]}},"URL":"https:\/\/doi.org\/10.1097\/inf.0b013e3182936280","relation":{},"ISSN":["0891-3668"],"issn-type":[{"value":"0891-3668","type":"print"}],"subject":[],"published":{"date-parts":[[2013,9]]}}}