{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T02:30:01Z","timestamp":1790908201980,"version":"4.1.0"},"reference-count":20,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2011,7,1]],"date-time":"2011-07-01T00:00:00Z","timestamp":1309478400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,7,1]],"date-time":"2011-07-01T00:00:00Z","timestamp":1309478400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jacionline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Allergy and Clinical Immunology"],"published-print":{"date-parts":[[2011,7]]},"DOI":"10.1016\/j.jaci.2011.03.042","type":"journal-article","created":{"date-parts":[[2011,5,20]],"date-time":"2011-05-20T09:52:15Z","timestamp":1305885135000},"page":"139-146","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":40,"title":["Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia"],"prefix":"10.1016","volume":"128","author":[{"given":"Miguel A.","family":"de la Fuente","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mike","family":"Recher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas L.","family":"Rider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin A.","family":"Strauss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Holmes","family":"Morton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Adair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco A.","family":"Bonilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans D.","family":"Ochs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erwin W.","family":"Gelfand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Itai M.","family":"Pessach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolan E.","family":"Walter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandra","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Giliani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung-Yun","family":"Pai","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.jaci.2011.03.042_bib1","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1097\/ACI.0b013e328310fe7d","article-title":"Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype","volume":"8","author":"Notarangelo","year":"2008","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2011.03.042_bib2","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/BF01956147","article-title":"Cartilage-hair hypoplasia\u2013clinical manifestations in 108 Finnish patients","volume":"152","author":"M\u00e4kitie","year":"1993","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jaci.2011.03.042_bib3","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1016\/j.jaci.2008.07.036","article-title":"Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations","volume":"122","author":"Kavadas","year":"2008","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2011.03.042_bib4","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/j.jaci.2006.01.003","article-title":"Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome","volume":"117","author":"Roifman","year":"2006","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2011.03.042_bib5","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1038\/sj.bmt.1705520","article-title":"Bone marrow transplantation for cartilage-hair-hypoplasia","volume":"38","author":"Guggenheim","year":"2006","journal-title":"Bone Marrow Transplant"},{"key":"10.1016\/j.jaci.2011.03.042_bib6","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1182\/blood-2010-01-259168","article-title":"Clinical and immunologic outcome of patients with cartilage hair\u00a0hypoplasia after hematopoietic stem cell transplantation","volume":"116","author":"Bordon","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2011.03.042_bib7","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1016\/j.humimm.2010.06.002","article-title":"Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia","volume":"71","author":"Horn","year":"2010","journal-title":"Hum Immunol"},{"key":"10.1016\/j.jaci.2011.03.042_bib8","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S0092-8674(01)00205-7","article-title":"Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia","volume":"104","author":"Ridanp\u00e4\u00e4","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.jaci.2011.03.042_bib9","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1182\/blood-2009-10-178129","article-title":"Ribosomopathies: human disorders of ribosome dysfunction","volume":"115","author":"Narla","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2011.03.042_bib10","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1086\/521034","article-title":"Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum","volume":"81","author":"Thiel","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2011.03.042_bib11","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1038\/nature08283","article-title":"An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA","volume":"461","author":"Maida","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2011.03.042_bib12","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1111\/j.1365-2249.1995.tb06628.x","article-title":"Defective expression of early activation genes in cartilage-hair hypoplasia (CHH) with severe combined immunodeficiency (SCID)","volume":"102","author":"Castigli","year":"1995","journal-title":"Clin Exp Immunol"},{"key":"10.1016\/j.jaci.2011.03.042_bib13","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1023\/A:1020563018864","article-title":"Cartilage-hair hypoplasia syndrome: increased apoptosis of T lymphocytes is associated with altered expression of Fas (CD95), FasL (CD95L), IAP, Bax, and Bcl2","volume":"19","author":"Yel","year":"1999","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2011.03.042_bib14","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":"10.1016\/j.jaci.2011.03.042_bib15","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.clim.2009.05.020","article-title":"Refined characterization and reference values of the pediatric T-\u00a0and B-cell compartments","volume":"133","author":"van Gent","year":"2009","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2011.03.042_bib16","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.clim.2008.11.001","article-title":"Immunologic and clinical features of 25 Amish patients with RMRP 70 A\u2013>G cartilage hair hypoplasia","volume":"131","author":"Rider","year":"2009","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2011.03.042_bib17","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1093\/genetics\/161.3.1029","article-title":"The Saccharomyces cerevisiae RNase mitochondrial RNA processing is critical for cell cycle progression at the end of mitosis","volume":"161","author":"Cai","year":"2002","journal-title":"Genetics"},{"key":"10.1016\/j.jaci.2011.03.042_bib18","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1007\/s004310050943","article-title":"Susceptibility to infections and in\u00a0vitro immune functions in cartilage-hair hypoplasia","volume":"157","author":"M\u00e4kitie","year":"1998","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jaci.2011.03.042_bib19","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1038\/ncb1858","article-title":"Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction","volume":"11","author":"Fumagalli","year":"2009","journal-title":"Nat Cell Biol"},{"key":"10.1016\/j.jaci.2011.03.042_bib20","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1006\/scbi.1998.0095","article-title":"p53-dependent cell cycle control: response to genotoxic stress","volume":"8","author":"Schwartz","year":"1998","journal-title":"Semin Cancer Biol"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674911005732?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674911005732?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T08:27:14Z","timestamp":1758788834000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674911005732"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,7]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,7]]}},"alternative-id":["S0091674911005732"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2011.03.042","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2011,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia","name":"articletitle","label":"Article Title"},{"value":"Journal of Allergy and Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaci.2011.03.042","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}