{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:55:10Z","timestamp":1791082510357,"version":"4.1.0"},"reference-count":22,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"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":[[2017,8]]},"DOI":"10.1016\/j.jaci.2017.02.016","type":"journal-article","created":{"date-parts":[[2017,3,9]],"date-time":"2017-03-09T02:19:26Z","timestamp":1489025966000},"page":"612-614.e5","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":37,"title":["Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia"],"prefix":"10.1016","volume":"140","author":[{"given":"Svetlana","family":"Kostjukovits","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Klemetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Valta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timi","family":"Martelius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi D.","family":"Notarangelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikko","family":"Sepp\u00e4nen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mervi","family":"Taskinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Outi","family":"M\u00e4kitie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2017.02.016_bib1","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.jaci.2011.03.042","article-title":"Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia","volume":"128","author":"de la Fuente","year":"2011","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.02.016_bib2","doi-asserted-by":"crossref","first-page":"6814","DOI":"10.1182\/blood-2011-06-361881","article-title":"B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency","volume":"118","author":"Driessen","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2017.02.016_bib3","first-page":"27","article-title":"An infant with both autoimmune neutropenia and idiopathic thrombocytopenia with IgG2\/IgA deficiency","volume":"57","author":"Sugita","year":"1993","journal-title":"Int J Hematol"},{"key":"10.1016\/j.jaci.2017.02.016_bib4","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1136\/adc.84.1.65","article-title":"Increased mortality in cartilage\u2013hair hypoplasia","volume":"84","author":"M\u00e4kitie","year":"2001","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.jaci.2017.02.016_bib5","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.2017.02.016_bib6","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-->G cartilage hair hypoplasia","volume":"131","author":"Rider","year":"2009","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2017.02.016_bib7","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.2017.02.016_bib8","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1182\/blood-2010-01-259168","article-title":"Inborn Error Working Party of the European Bone Marrow Transplantation (EBMT) Group. Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation","volume":"116","author":"Bordon","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2017.02.016_bib9","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1007\/s10875-015-0135-7","article-title":"Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations","volume":"35","author":"Ip","year":"2015","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2017.02.016_bibE1","doi-asserted-by":"crossref","DOI":"10.4049\/jimmunol.1402128","article-title":"Lyme borreliosis and deficient Mannose-binding lectin pathway of complement","author":"Sajanti","year":"2014","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2017.02.016_bibE2","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1067\/mpd.2000.108102","article-title":"Deficiency of humoral immunity in cartilage-hair hypoplasia","volume":"137","author":"M\u00e4kitie","year":"2000","journal-title":"J Pediatr"},{"key":"10.1016\/j.jaci.2017.02.016_bibE3","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1002\/(SICI)1096-9071(199811)56:3<186::AID-JMV2>3.0.CO;2-3","article-title":"Immunoreactivation of Epstein-Barr virus due to cytomegalovirus primary infection","volume":"56","author":"Aalto","year":"1998","journal-title":"J Med Virol"},{"key":"10.1016\/j.jaci.2017.02.016_bibE4","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.mimet.2014.02.011","article-title":"Performance of a multiplexed serological microarray for the detection of antibodies against central nervous system pathogens","volume":"100","author":"J\u00e4\u00e4skel\u00e4inen","year":"2014","journal-title":"J Microbiol Methods"},{"key":"10.1016\/j.jaci.2017.02.016_bibE5","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1111\/j.1699-0463.1997.tb05093.x","article-title":"Improved ELISA for determination of anti-diphtheria and\/or anti-tetanus antitoxin antibodies in sera","volume":"105","author":"Kristiansen","year":"1997","journal-title":"APMIS"},{"key":"10.1016\/j.jaci.2017.02.016_bibE6","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1097\/MPG.0000000000000624","article-title":"Infections in infants fed formula supplemented with bovine milk fat globule membranes","volume":"60","author":"Timby","year":"2015","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jaci.2017.02.016_bibE7","series-title":"Stiehm's immune deficiencies","first-page":"413","article-title":"Specific antibody deficiency with normal immunoglobulins","author":"Sorensen","year":"2014"},{"key":"10.1016\/j.jaci.2017.02.016_bibE8","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1002\/cytob.21162","article-title":"Eight-color immunophenotyping of T-, B-, and NK-cell subpopulations for characterization of chronic immunodeficiencies","volume":"86","author":"Boldt","year":"2014","journal-title":"Cytometry B Clin Cytom"},{"key":"10.1016\/j.jaci.2017.02.016_bibE9","doi-asserted-by":"crossref","first-page":"6814","DOI":"10.1182\/blood-2011-06-361881","article-title":"B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency","volume":"118","author":"Driessen","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2017.02.016_bibE10","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1111\/j.1365-3083.2012.02671.x","article-title":"Paediatric reference values for the peripheral T cell compartment","volume":"75","author":"Schatorj\u00e9","year":"2012","journal-title":"Scand J Immunol"},{"key":"10.1016\/j.jaci.2017.02.016_bibE11","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/j.jaci.2003.07.003","article-title":"Pediatric AIDS Clinical Trials Group. Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study","volume":"112","author":"Shearer","year":"2003","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.02.016_bibE12","first-page":"561","article-title":"Nephelometric measurements of human IgG subclasses and their reference ranges","volume":"52","author":"Vlug","year":"1994","journal-title":"Ann Biol Clin"},{"key":"10.1016\/j.jaci.2017.02.016_bibE13","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1182\/blood-2007-06-091744","article-title":"The EUROclass trial: defining subgroups in common variable immunodeficiency","volume":"111","author":"Wehr","year":"2008","journal-title":"Blood"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674917304049?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674917304049?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T09:05:51Z","timestamp":1758791151000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674917304049"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["S0091674917304049"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2017.02.016","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2017,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Analysis of clinical and immunologic phenotype in a large cohort of children and adults 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.2017.02.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 American Academy of Allergy, Asthma & Immunology","name":"copyright","label":"Copyright"}]}}