{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T23:39:15Z","timestamp":1783381155350,"version":"3.54.6"},"reference-count":42,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,1,15]],"date-time":"2019-01-15T00:00:00Z","timestamp":1547510400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"DOI":"10.3389\/fimmu.2018.03146","type":"journal-article","created":{"date-parts":[[2019,1,15]],"date-time":"2019-01-15T06:12:11Z","timestamp":1547532731000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":56,"title":["Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population"],"prefix":"10.3389","volume":"9","author":[{"given":"Waleed","family":"Al-Herz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Chou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ottavia Maria","family":"Delmonte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel J.","family":"Massaad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wayne","family":"Bainter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Castagnoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yenan T.","family":"Bryceson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raif S.","family":"Geha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi D.","family":"Notarangelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2019,1,15]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1007\/s10875-017-0464-9","article-title":"International union of immunological societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity","volume":"38","author":"Picard","year":"2018","journal-title":"J Clin Immunol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1007\/s10875-008-9191-6","article-title":"Primary immunodeficiency disorders: survey of pediatricians in Kuwait","volume":"28","author":"Al-Herz","year":"2008","journal-title":"J Clin Immunol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1016\/j.clim.2015.07.013","article-title":"USIDNET consortium. Combined immunodeficiency in the United States and Kuwait: comparison of patients' characteristics and molecular diagnosis","volume":"161","author":"Al-Herz","year":"2015","journal-title":"Clin Immunol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1007\/s10875-016-0337-7","article-title":"Primary immunodeficiency diseases in Oman: 10-year experience in a tertiary care hospital","volume":"36","author":"Al-Tamemi","year":"2016","journal-title":"J Clin Immunol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1007\/s10875-014-0001-z","article-title":"Primary immunodeficiency disorders in Iran: update and new insights from the third report of the national registry","volume":"34","author":"Aghamohammadi","year":"2014","journal-title":"J Clin Immunol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1111\/j.1749-6632.2011.06289.x","article-title":"Advances in primary immunodeficiency diseases in Latin America: epidemiology, research, and perspectives","volume":"1250","author":"Errante","year":"2012","journal-title":"Ann N Y Acad Sci"},{"key":"B7","doi-asserted-by":"publisher","first-page":"372","DOI":"10.1111\/cei.12105","article-title":"The German national registry for primary immunodeficiencies (PID)","volume":"173","author":"Gathmann","year":"2013","journal-title":"Clin Exp Immunol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1016\/j.clim.2010.02.021","article-title":"The French national registry of primary immunodeficiency diseases","volume":"135","year":"2010","journal-title":"Clin Immunol."},{"key":"B9","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1007\/s10875-017-0465-8","article-title":"The 2017 IUIS phenotypic classification for primary immunodeficiencies","volume":"38","author":"Bousfiha","year":"2018","journal-title":"J Clin Immunol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"1186","DOI":"10.1016\/j.jaci.2015.04.049","article-title":"Joint task force on practice parameters, representing the american academy of allergy, asthma & immunology; the american college of allergy, asthma & immunology; and the joint council of allergy, asthma & immunology","volume":"136","author":"Bonilla","year":"2015","journal-title":"J Allergy Clin Immunol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"937","DOI":"10.3389\/fimmu.2017.00937","article-title":"Primary immunodeficiency diseases: current and emerging therapeutics","volume":"8","author":"Marciano","year":"2017","journal-title":"Front Immunol."},{"key":"B12","doi-asserted-by":"publisher","first-page":"1407","DOI":"10.1056\/NEJMoa1404588","article-title":"A modified \u03b3-retrovirus vector for X-linked severe combined immunodeficiency","volume":"371","author":"Hacein-Bey-Abina","year":"2014","journal-title":"N Engl J Med"},{"key":"B13","doi-asserted-by":"publisher","first-page":"2113","DOI":"10.1016\/S0140-6736(04)17552-1","article-title":"Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies","volume":"364","author":"Dorman","year":"2004","journal-title":"Lancet"},{"key":"B14","doi-asserted-by":"publisher","first-page":"4010-9","DOI":"10.1182\/blood-2003-05-1592","article-title":"Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype\/genotype correlation","volume":"104","author":"Jin","year":"2004","journal-title":"Blood"},{"key":"B15","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1136\/jmg.20.1.58","article-title":"Consanguineous matings in the Egyptian population","volume":"20","author":"Hafez","year":"1983","journal-title":"J Med Genet."},{"key":"B16","first-page":"310","article-title":"A case report of 22q11 deletion syndrome confirmed by array-CGH method","volume":"17","author":"Sedghi","year":"2012","journal-title":"J Res Med Sci"},{"key":"B17","doi-asserted-by":"publisher","first-page":"1142","DOI":"10.1016\/j.jaci.2016.05.035","article-title":"Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing","volume":"138","author":"Yu","year":"2016","journal-title":"J Allergy Clin Immunol."},{"key":"B18","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1038\/gim.2014.80","article-title":"Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing","volume":"17","author":"Feng","year":"2015","journal-title":"Genet Med"},{"key":"B19","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1038\/ng.3465","article-title":"A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency","volume":"48","author":"Jabara","year":"2016","journal-title":"Nat Genet"},{"key":"B20","doi-asserted-by":"publisher","first-page":"2409","DOI":"10.1056\/NEJMoa1413462","article-title":"Inherited DOCK2 deficiency in patients with early-onset invasive infections","volume":"372","author":"Dobbs","year":"2015","journal-title":"N Engl J Med"},{"key":"B21","doi-asserted-by":"publisher","first-page":"1112","DOI":"10.1016\/j.jaci.2016.10.053","article-title":"Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: genotoxic stress-associated bone marrow failure and developmental aberrations","volume":"140","author":"Bahrami","year":"2017","journal-title":"J Allergy Clin Immunol."},{"key":"B22","doi-asserted-by":"publisher","first-page":"939","DOI":"10.1084\/jem.20141130","article-title":"Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia","volume":"212","author":"Boisson","year":"2015","journal-title":"J Exp Med"},{"key":"B23","doi-asserted-by":"publisher","first-page":"4219","DOI":"10.1172\/JCI85647","article-title":"Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity","volume":"126","author":"Massaad","year":"2016","journal-title":"J Clin Invest"},{"key":"B24","doi-asserted-by":"publisher","first-page":"1780","DOI":"10.1016\/j.jaci.2015.12.1310","article-title":"Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases","volume":"137","author":"Al-Mousa","year":"2016","journal-title":"J Allergy Clin Immunol."},{"key":"B25","doi-asserted-by":"publisher","first-page":"737","DOI":"10.3389\/fimmu.2017.00737","article-title":"Lessons from genetic studies of primary immunodeficiencies in a highly consanguineous population","volume":"8","author":"Barbouche","year":"2017","journal-title":"Front Immunol."},{"key":"B26","doi-asserted-by":"publisher","first-page":"1450","DOI":"10.1016\/j.jaci.2017.06.049","article-title":"Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency","volume":"141","author":"Abolhassani","year":"2018","journal-title":"J Allergy Clin Immunol."},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaip.2018.09.004","article-title":"Comparison of common monogenic defects in a large predominantly antibody deficiency cohort","author":"Yazdani","year":"2018","journal-title":"J Allergy Clin Immunol Pract."},{"key":"B28","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1007\/s10875-015-0197-6","article-title":"Primary immunodeficiency diseases in saudi arabia: a tertiary care hospital experience over a period of three years","volume":"35","author":"Al-Saud","year":"2015","journal-title":"J Clin Immunol"},{"key":"B29","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1007\/s10875-016-0314-1","article-title":"Patterns of primary immunodeficiency disorders among a highly consanguineous population: cairo university pediatric hospital's 5-year experience","volume":"36","author":"Gala","year":"2016","journal-title":"J Clin Immunol."},{"key":"B30","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1111\/j.1399-0004.1985.tb00236.x","article-title":"Consanguinity among the Kuwaiti population","volume":"27","author":"Al-Awadi","year":"1985","journal-title":"Clin Genet."},{"key":"B31","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1001\/jama.2014.9132","article-title":"Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States","volume":"312","author":"Kwan","year":"2014","journal-title":"JAMA"},{"key":"B32","doi-asserted-by":"publisher","first-page":"1156","DOI":"10.1016\/j.jaci.2013.05.039","article-title":"Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients","volume":"132","author":"K\u00f6ker","year":"2013","journal-title":"J Allergy Clin Immunol."},{"key":"B33","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1097\/00005792-200005000-00004","article-title":"Genetic, biochemical, and clinical features of chronic granulomatous disease","volume":"79","author":"Segal","year":"2000","journal-title":"Medicine"},{"key":"B34","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1097\/INF.0b013e3182936280","article-title":"Clinical features and genetic analysis of Taiwanese patients with the hyper IgM syndrome phenotype","volume":"32","author":"Lee","year":"2013","journal-title":"Pediatr Infect Dis J"},{"key":"B35","doi-asserted-by":"publisher","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":"B36","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1007\/s10875-013-9980-4","article-title":"First report of the Hyper-IgM syndrome registry of the latin american society for immunodeficiencies: novel mutations, unique infections, and outcomes","volume":"34","author":"Cabral-Marques","year":"2014","journal-title":"J Clin Immunol."},{"key":"B37","first-page":"302","article-title":"Primary immunodeficiency in south China: clinical features and a genetic subanalysis of 138 children","volume":"23","author":"Zeng","year":"2013","journal-title":"J Investig Allergol Clin Immunol."},{"key":"B38","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1186\/s13223-016-0169-2","article-title":"Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand","volume":"12","author":"Woon","year":"2016","journal-title":"Allergy Asthma Clin Immunol."},{"key":"B39","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1159\/000357710","article-title":"Consanguinity and primary immunodeficiencies","volume":"77","author":"Al-Herz","year":"2014","journal-title":"Hum Hered"},{"key":"B40","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1007\/s10875-018-0489-8","article-title":"Use of genetic testing for primary immunodeficiency patients","volume":"38","author":"Heimall","year":"2018","journal-title":"J Clin Immunol."},{"key":"B41","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1097\/ACI.0b013e3283588da0","article-title":"Monogenic defects in lymphocyte apoptosis","volume":"12","author":"Fleisher","year":"2012","journal-title":"Curr Opin Allergy Clin Immunol."},{"key":"B42","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1016\/j.jaci.2016.11.033","article-title":"Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression","volume":"140","author":"Agrebi","year":"2017","journal-title":"J Allergy Clin Immunol."}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2018.03146\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,1,15]],"date-time":"2019-01-15T06:12:13Z","timestamp":1547532733000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2018.03146\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,15]]},"references-count":42,"alternative-id":["10.3389\/fimmu.2018.03146"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2018.03146","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,15]]},"article-number":"3146"}}