{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:23:00Z","timestamp":1790900580214,"version":"4.1.0"},"reference-count":88,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","jacionline.org","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Allergy and Clinical Immunology"],"published-print":{"date-parts":[[2017,1]]},"DOI":"10.1016\/j.jaci.2016.05.042","type":"journal-article","created":{"date-parts":[[2016,7,17]],"date-time":"2016-07-17T15:45:53Z","timestamp":1468770353000},"page":"232-245","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":267,"title":["Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders"],"prefix":"10.1016","volume":"139","author":[{"given":"Asbj\u00f8rg","family":"Stray-Pedersen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanne S\u00f8rmo","family":"Sorte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pubudu","family":"Samarakoon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz","family":"Gambin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan K.","family":"Chinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynep H.","family":"Coban Akdemir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans Christian","family":"Erichsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa R.","family":"Forbes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shen","family":"Gu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shalini N.","family":"Jhangiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"Muzny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaug Kristin","family":"R\u00f8dningen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Sheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah K.","family":"Nicholas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenora M.","family":"Noroski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filiz O.","family":"Seeborg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla M.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debra L.","family":"Canter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily M.","family":"Mace","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy J.","family":"Vece","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carl E.","family":"Allen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harshal A.","family":"Abhyankar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip M.","family":"Boone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine R.","family":"Beck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wojciech","family":"Wiszniewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00f8rre","family":"Fevang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u00e5l","family":"Aukrust","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geir E.","family":"Tj\u00f8nnfjord","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Gedde-Dahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Hjorth-Hansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingunn","family":"Dybedal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingvild","family":"Nord\u00f8y","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silje F.","family":"J\u00f8rgensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tore G.","family":"Abrahamsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Torstein","family":"\u00d8verland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Grete","family":"Bechensteen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vegard","family":"Skogen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liv T.N.","family":"Osnes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari Ann","family":"Kulseth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trine E.","family":"Prescott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilie F.","family":"Rustad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ketil R.","family":"Heimdal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John W.","family":"Belmont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2549-0678","authenticated-orcid":false,"given":"Nicholas L.","family":"Rider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Chinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tram N.","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric A.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Soledad","family":"Caldirola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliana","family":"Bezrodnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saul Oswaldo","family":"Lugo Reyes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco J.","family":"Espinosa Rosales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina Denisse","family":"Guerrero-Cursaru","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5687-8352","authenticated-orcid":false,"given":"Luis Alberto","family":"Pedroza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia M.","family":"Poli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose L.","family":"Franco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia M.","family":"Trujillo Vargas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3548-0385","authenticated-orcid":false,"given":"Juan Carlos","family":"Aldave Becerra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Wright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas B.","family":"Issekutz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew C.","family":"Issekutz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6334-5266","authenticated-orcid":false,"given":"Jordan","family":"Abbott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason W.","family":"Caldwell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana K.","family":"Bayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice Y.","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Aiuti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Cancrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Holmberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"West","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magnus","family":"Burstedt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ender","family":"Karaca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6zde","family":"Yesil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasibe","family":"Artac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yavuz","family":"Bayram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmed Musa","family":"Atik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad K.","family":"Eldomery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad S.","family":"Ehlayel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Jolles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berit","family":"Flat\u00f8","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison A.","family":"Bertuch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I. Celine","family":"Hanson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor W.","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee-Jun","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianhong","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Walkiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaping","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine M.","family":"Eng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Boerwinkle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Gibbs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William T.","family":"Shearer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Lyle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordan S.","family":"Orange","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2016.05.042_bib1","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1007\/s10875-015-0201-1","article-title":"Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015","volume":"35","author":"Picard","year":"2015","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib2","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1023\/A:1026416017763","article-title":"Primary immunodeficiency diseases in Norway","volume":"20","author":"Stray-Pedersen","year":"2000","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib3","first-page":"141","article-title":"Performance status and deaths among children registered in Kuwait National Primary Immunodeficiency Disorders Registry","volume":"28","author":"Al-Herz","year":"2010","journal-title":"Asian Pac J Allergy"},{"key":"10.1016\/j.jaci.2016.05.042_bib4","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.jaci.2013.12.1077","article-title":"Clinical picture and treatment of 2212 patients with common variable immunodeficiency","volume":"134","author":"Gathmann","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib5","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1007\/s00431-015-2518-4","article-title":"Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening","volume":"174","author":"de Pagter","year":"2015","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jaci.2016.05.042_bib6","doi-asserted-by":"crossref","first-page":"1935","DOI":"10.1016\/j.molimm.2009.03.016","article-title":"Molecular characterization of a large cohort of patients with chronic granulomatous disease and identification of novel CYBB mutations: an Italian multicenter study","volume":"46","author":"Di Matteo","year":"2009","journal-title":"Mol Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib7","doi-asserted-by":"crossref","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":"Koker","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib8","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1007\/s10875-011-9567-x","article-title":"Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease","volume":"31","author":"Fattahi","year":"2011","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib9","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.clim.2010.09.010","article-title":"Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey","volume":"138","author":"Chan","year":"2011","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib10","doi-asserted-by":"crossref","DOI":"10.1111\/bjh.13520","article-title":"Gene therapy for monogenic disorders of the bone marrow","author":"Ghosh","year":"2015","journal-title":"Br J Haematol"},{"key":"10.1016\/j.jaci.2016.05.042_bib11","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/nature13420","article-title":"Targeted genome editing in human repopulating haematopoietic stem cells","volume":"510","author":"Genovese","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2016.05.042_bib12","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1001\/jama.2015.3253","article-title":"Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome","volume":"313","author":"Hacein-Bey Abina","year":"2015","journal-title":"JAMA"},{"key":"10.1016\/j.jaci.2016.05.042_bib13","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1056\/NEJMoa1401177","article-title":"Transplantation outcomes for severe combined immunodeficiency, 2000-2009","volume":"371","author":"Pai","year":"2014","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2016.05.042_bib14","doi-asserted-by":"crossref","first-page":"57","DOI":"10.2174\/156652312799789253","article-title":"Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency","volume":"12","author":"Montiel-Equihua","year":"2012","journal-title":"Curr Gene Ther"},{"key":"10.1016\/j.jaci.2016.05.042_bib15","first-page":"567","article-title":"Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis","volume":"22","author":"Henderson","year":"2010","journal-title":"Curr Opin Rheumatol"},{"key":"10.1016\/j.jaci.2016.05.042_bib16","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1111\/j.1600-0463.2006.apm_522.x","article-title":"Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation","volume":"114","author":"Milman","year":"2006","journal-title":"APMIS"},{"key":"10.1016\/j.jaci.2016.05.042_bib17","doi-asserted-by":"crossref","first-page":"2426","DOI":"10.1056\/NEJMoa0807865","article-title":"An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist","volume":"360","author":"Aksentijevich","year":"2009","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2016.05.042_bib18","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.jaci.2013.08.032","article-title":"Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies","volume":"133","author":"Nijman","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib19","doi-asserted-by":"crossref","first-page":"e114901","DOI":"10.1371\/journal.pone.0114901","article-title":"Diagnostics of primary immunodeficiency diseases: a sequencing capture approach","volume":"9","author":"Moens","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.jaci.2016.05.042_bib20","doi-asserted-by":"crossref","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":"10.1016\/j.jaci.2016.05.042_bib21","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of Mendelian disorders","volume":"369","author":"Yang","year":"2013","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2016.05.042_bib22","doi-asserted-by":"crossref","first-page":"1870","DOI":"10.1001\/jama.2014.14601","article-title":"Molecular findings among patients referred for clinical whole-exome sequencing","volume":"312","author":"Yang","year":"2014","journal-title":"JAMA"},{"key":"10.1016\/j.jaci.2016.05.042_bib23","doi-asserted-by":"crossref","first-page":"e57","DOI":"10.1093\/nar\/gnf056","article-title":"Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification","volume":"30","author":"Schouten","year":"2002","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jaci.2016.05.042_bib24","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1006\/clim.1999.4799","article-title":"Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)","volume":"93","author":"Conley","year":"1999","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib25","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1016\/j.jaci.2015.04.049","article-title":"Practice parameter for the diagnosis and management of primary immunodeficiency","volume":"136","author":"Bonilla","year":"2015","journal-title":"J Allergy Clin Immunol"},{"issue":"suppl\u00a01","key":"10.1016\/j.jaci.2016.05.042_bib26","doi-asserted-by":"crossref","first-page":"S1","DOI":"10.1016\/S1081-1206(10)61142-8","article-title":"Practice parameter for the diagnosis and management of primary immunodeficiency","volume":"94","author":"Bonilla","year":"2005","journal-title":"Ann Allergy Asthma Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib27","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1007\/s10875-015-0198-5","article-title":"The 2015 IUIS phenotypic classification for primary immunodeficiencies","volume":"35","author":"Bousfiha","year":"2015","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib28","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/nrg3031","article-title":"Exome sequencing as a tool for Mendelian disease gene discovery","volume":"12","author":"Bamshad","year":"2011","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.jaci.2016.05.042_bib29","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1186\/gm461","article-title":"Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy","volume":"5","author":"Lupski","year":"2013","journal-title":"Genome Med"},{"key":"10.1016\/j.jaci.2016.05.042_bib30","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1007\/s10875-014-0074-8","article-title":"Compound heterozygous CORO1A mutations in siblings with\u00a0a\u00a0mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy","volume":"34","author":"Stray-Pedersen","year":"2014","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib31","doi-asserted-by":"crossref","first-page":"R94","DOI":"10.1186\/gb-2011-12-9-r94","article-title":"Comparison of solution-based exome capture methods for next generation sequencing","volume":"12","author":"Sulonen","year":"2011","journal-title":"Genome Biol"},{"key":"10.1016\/j.jaci.2016.05.042_bib32","doi-asserted-by":"crossref","first-page":"12742","DOI":"10.1038\/srep12742","article-title":"Performance comparison of four commercial human whole-exome capture platforms","volume":"5","author":"Shigemizu","year":"2015","journal-title":"Sci Rep"},{"key":"10.1016\/j.jaci.2016.05.042_bib33","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1471-2105-15-30","article-title":"Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline","volume":"15","author":"Reid","year":"2014","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.jaci.2016.05.042_bib34","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1101\/gr.097857.109","article-title":"Detection of nonneutral substitution rates on mammalian phylogenies","volume":"20","author":"Pollard","year":"2010","journal-title":"Genome Res"},{"key":"10.1016\/j.jaci.2016.05.042_bib35","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1101\/gr.3577405","article-title":"Distribution and intensity of constraint in mammalian genomic sequence","volume":"15","author":"Cooper","year":"2005","journal-title":"Genome Res"},{"key":"10.1016\/j.jaci.2016.05.042_bib36","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: Predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jaci.2016.05.042_bib37","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1016\/j.jaci.2016.05.042_bib38","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1101\/gr.092619.109","article-title":"Identification of deleterious mutations within three human genomes","volume":"19","author":"Chun","year":"2009","journal-title":"Genome Res"},{"key":"10.1016\/j.jaci.2016.05.042_bib39","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"key":"10.1016\/j.jaci.2016.05.042_bib40","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.jaci.2016.05.042_bib41","doi-asserted-by":"crossref","first-page":"142","DOI":"10.3389\/fimmu.2015.00142","article-title":"Novel primary immunodeficiency candidate genes predicted by the human gene connectome","volume":"6","author":"Itan","year":"2015","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib42","doi-asserted-by":"crossref","first-page":"2137","DOI":"10.1084\/jem.20140520","article-title":"Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies","volume":"211","author":"Casanova","year":"2014","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2016.05.042_bib43","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1186\/1471-2164-15-661","article-title":"Identification of copy number variants from exome sequence data","volume":"15","author":"Samarakoon","year":"2014","journal-title":"BMC Genomics"},{"key":"10.1016\/j.jaci.2016.05.042_bib44","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1111\/cei.12421","article-title":"Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray","volume":"178","author":"Bayer","year":"2014","journal-title":"Clin Exp Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib45","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.ajhg.2014.05.007","article-title":"PGM3 mutations cause a congenital disorder of glycosylation with severe\u00a0immunodeficiency and skeletal dysplasia","volume":"95","author":"Stray-Pedersen","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2016.05.042_bib46","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1056\/NEJMoa1512234","article-title":"Loss of B Cells in Patients with Heterozygous Mutations in IKAROS","volume":"374","author":"Kuehn","year":"2016","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2016.05.042_bib47","doi-asserted-by":"crossref","first-page":"1662","DOI":"10.1016\/j.bbadis.2013.05.001","article-title":"Different unequal cross-over events between NCF1 and its pseudogenes in autosomal p47(phox)-deficient chronic granulomatous disease","volume":"1832","author":"Hayrapetyan","year":"2013","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.jaci.2016.05.042_bib48","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1111\/j.1651-2227.1970.tb08986.x","article-title":"Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers","volume":"59","author":"Hoyeraal","year":"1970","journal-title":"Acta Paediatr Scand"},{"key":"10.1016\/j.jaci.2016.05.042_bib49","doi-asserted-by":"crossref","first-page":"1966","DOI":"10.1002\/eji.200939385","article-title":"Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity","volume":"39","author":"Picard","year":"2009","journal-title":"Eur J Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib50","first-page":"2544","article-title":"Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay","volume":"54","author":"Huo","year":"1994","journal-title":"Cancer Res"},{"key":"10.1016\/j.jaci.2016.05.042_bib51","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.cell.2011.09.008","article-title":"Clan genomics and the complex architecture of human disease","volume":"147","author":"Lupski","year":"2011","journal-title":"Cell"},{"key":"10.1016\/j.jaci.2016.05.042_bib52","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1038\/ng.3279","article-title":"COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis","volume":"47","author":"Watkin","year":"2015","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2016.05.042_bib53","doi-asserted-by":"crossref","first-page":"2883","DOI":"10.1182\/blood-2010-07-295501","article-title":"Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis","volume":"117","author":"Niemela","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2016.05.042_bib54","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1182\/blood-2014-09-602763","article-title":"Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations","volume":"125","author":"Milner","year":"2015","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2016.05.042_bib55","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1016\/j.jaci.2013.08.045","article-title":"Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation","volume":"132","author":"Siegel","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib56","first-page":"587","article-title":"Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2","volume":"34","author":"Bornholdt","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jaci.2016.05.042_bib57","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/j.ejmg.2013.09.005","article-title":"Expanding the phenotype of IFAP\/BRESECK syndrome: a new case with severe hypogammaglobulinemia","volume":"56","author":"Corujeira","year":"2013","journal-title":"Eur J Med Gene"},{"key":"10.1016\/j.jaci.2016.05.042_bib58","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/ng.727","article-title":"The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation","volume":"43","author":"Becker-Heck","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2016.05.042_bib59","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.ajhg.2014.12.020","article-title":"CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria","volume":"96","author":"Saunders","year":"2015","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2016.05.042_bib60","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.ajhg.2014.12.013","article-title":"CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder","volume":"96","author":"Wortmann","year":"2015","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2016.05.042_bib61","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1038\/nm.3746","article-title":"Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations","volume":"20","author":"Schubert","year":"2014","journal-title":"Nat Med"},{"key":"10.1016\/j.jaci.2016.05.042_bib62","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.1126\/science.1255904","article-title":"Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4","volume":"345","author":"Kuehn","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.jaci.2016.05.042_bib63","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1158\/1055-9965.EPI-14-1426","article-title":"Inherited genetic variants associated with occurrence of multiple primary melanoma","volume":"24","author":"Gibbs","year":"2015","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"10.1016\/j.jaci.2016.05.042_bib64","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1038\/ng.959","article-title":"Genome-wide association study identifies three new melanoma susceptibility loci","volume":"43","author":"Barrett","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2016.05.042_bib65","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1016\/j.ajhg.2013.09.009","article-title":"Germline mutations in NFKB2 implicate the noncanonical NF-kappaB pathway in the pathogenesis of common variable immunodeficiency","volume":"93","author":"Chen","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2016.05.042_bib66","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1007\/s10875-014-0064-x","article-title":"Novel NFKB2 mutation in early-onset CVID","volume":"34","author":"Liu","year":"2014","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib67","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1016\/j.jaci.2014.11.038","article-title":"Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease","volume":"135","author":"Lougaris","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib68","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1016\/j.jaci.2014.02.025","article-title":"Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels","volume":"133","author":"Sassi","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib69","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1016\/j.jaci.2014.02.013","article-title":"Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment","volume":"133","author":"Zhang","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib70","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/j.jaci.2015.07.047","article-title":"Neonatal-onset T(\u2212)B(\u2212)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3","volume":"137","author":"Bernth-Jensen","year":"2016","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib71","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1016\/j.celrep.2015.07.023","article-title":"Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy","volume":"12","author":"Gonzaga-Jauregui","year":"2015","journal-title":"Cell Rep"},{"key":"10.1016\/j.jaci.2016.05.042_bib72","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1038\/ng.712","article-title":"A de novo paradigm for mental retardation","volume":"42","author":"Vissers","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2016.05.042_bib73","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/nature13394","article-title":"Genome sequencing identifies major causes of severe intellectual disability","volume":"511","author":"Gilissen","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2016.05.042_bib74","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1056\/NEJMoa0908094","article-title":"Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy","volume":"362","author":"Lupski","year":"2010","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2016.05.042_bib75","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1111\/cge.12257","article-title":"A\u00a0systematic approach to assessing the clinical significance of genetic variants","volume":"84","author":"Duzkale","year":"2013","journal-title":"Clin Genet"},{"key":"10.1016\/j.jaci.2016.05.042_bib76","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","article-title":"Diagnostic exome sequencing in persons with severe intellectual disability","volume":"367","author":"de Ligt","year":"2012","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.jaci.2016.05.042_bib77","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1016\/S0140-6736(12)61480-9","article-title":"Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study","volume":"380","author":"Rauch","year":"2012","journal-title":"Lancet"},{"key":"10.1016\/j.jaci.2016.05.042_bib78","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/nature14135","article-title":"Large-scale discovery of novel genetic causes of developmental disorders","volume":"519","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2016.05.042_bib79","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1016\/j.jaci.2011.02.039","article-title":"Genome-wide association identifies diverse causes of common variable immunodeficiency","volume":"127","author":"Orange","year":"2011","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib80","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.clim.2015.05.020","article-title":"Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders","volume":"160","author":"van Schouwenburg","year":"2015","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib81","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.neuron.2015.09.048","article-title":"Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease","volume":"88","author":"Karaca","year":"2015","journal-title":"Neuron"},{"key":"10.1016\/j.jaci.2016.05.042_bib82","doi-asserted-by":"crossref","first-page":"531","DOI":"10.3389\/fimmu.2014.00531","article-title":"Targeted NGS: a\u00a0cost-effective approach to molecular diagnosis of PIDs","volume":"5","author":"Stoddard","year":"2014","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib83","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1007\/s11882-014-0468-y","article-title":"Utility\u00a0of next generation sequencing in clinical primary immunodeficiencies","volume":"14","author":"Raje","year":"2014","journal-title":"Curr Allergy Asthma Rep"},{"key":"10.1016\/j.jaci.2016.05.042_bib84","doi-asserted-by":"crossref","first-page":"2854","DOI":"10.1002\/eji.201444669","article-title":"Contribution of high-throughput DNA sequencing to\u00a0the study of primary immunodeficiencies","volume":"44","author":"Picard","year":"2014","journal-title":"Eur J Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib85","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.jaci.2013.08.021","article-title":"Gene hunting in the genomic era: Approaches to diagnostic dilemmas in patients with primary immunodeficiencies","volume":"134","author":"Platt","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2016.05.042_bib86","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1186\/1471-2105-15-247","article-title":"Variant detection sensitivity and biases in whole genome and exome sequencing","volume":"15","author":"Meynert","year":"2014","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.jaci.2016.05.042_bib87","doi-asserted-by":"crossref","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":"10.1016\/j.jaci.2016.05.042_bib88","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1016\/j.jaci.2016.05.035","article-title":"Rapid molecular diagnostics of severe primary immunodeficiency by targeted next generation sequencing","volume":"138","author":"Yu","year":"2016","journal-title":"J Allergy Clin Immunol"}],"updated-by":[{"DOI":"10.1016\/j.jaci.2017.12.975","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T00:00:00Z","timestamp":1517443200000}}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674916306248?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674916306248?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,6,29]],"date-time":"2018-06-29T13:49:31Z","timestamp":1530280171000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674916306248"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1]]},"references-count":88,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["S0091674916306248"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2016.05.042","relation":{"erratum":[{"id-type":"doi","id":"10.1016\/j.jaci.2017.12.975","asserted-by":"object"}]},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2017,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders","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.2016.05.042","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 American Academy of Allergy, Asthma & Immunology","name":"copyright","label":"Copyright"}]}}