{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T00:59:35Z","timestamp":1791939575648,"version":"4.3.4"},"reference-count":45,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T00:00:00Z","timestamp":1722816000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T00:00:00Z","timestamp":1722816000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001773","name":"University of New South Wales","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001773","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Advanced genomic technologies such as whole exome or whole genome sequencing have improved diagnoses and disease outcomes for individuals with genetic diseases. Yet, variants of unknown significance (VUS) require rigorous validation to establish disease causality or modification, or to exclude them from further analysis. Here, we describe a young individual of Polynesian ancestry who in the first 13 mo of life presented with SARS-CoV-2 pneumonia, severe enterovirus meningitis and adenovirus gastroenteritis, and severe adverse reaction to MMR vaccination. Genomic analysis identified a previously reported pathogenic homozygous variant in <jats:italic>IFNAR1<\/jats:italic> (c.1156G\u2009&gt;\u2009T, p.Glu386* LOF), which is common in Western Polynesia. Moreover, a new and putatively deleterious canonical splice site variant in <jats:italic>DOCK8<\/jats:italic> was also found in homozygosity (c.3234\u2009+\u20092T\u2009&gt;\u2009C). This <jats:italic>DOCK8<\/jats:italic> variant is common in Polynesians and other under-represented ancestries in large genomic databases. Despite <jats:italic>in silico<\/jats:italic> bioinformatic predictions, extensive in vitro and ex vivo analysis revealed the <jats:italic>DOCK8<\/jats:italic> variant likely be neutral. Thus, our study reports a novel case of IFNAR1 deficiency, but also highlights the importance of functional validation of VUS, including those predicted to be deleterious, and the pressing need to expand our knowledge of the genomic architecture and landscape of under-represented populations and ancestries.<\/jats:p>","DOI":"10.1007\/s10875-024-01774-x","type":"journal-article","created":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T01:01:46Z","timestamp":1722819706000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries"],"prefix":"10.1007","volume":"44","author":[{"given":"Aimee","family":"Huynh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul E","family":"Gray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Sullivan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Mackie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Guerin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geetha","family":"Rao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karrnan","family":"Pathmanandavel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika Della","family":"Mina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgina","family":"Hollway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Hobbs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Enthoven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"O\u2019Young","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sam","family":"McManus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luke H.","family":"Wainwright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan","family":"Higgins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fallon","family":"Noon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Bastard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kuang-Chih","family":"Hsiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Pinzon-Charry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cindy S","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart G.","family":"Tangye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,8,5]]},"reference":[{"issue":"9","key":"1774_CR1","doi-asserted-by":"publisher","first-page":"2057","DOI":"10.1084\/jem.20182295","volume":"216","author":"N Hernandez","year":"2019","unstructured":"Hernandez N, Bucciol G, Moens L, Le Pen J, Shahrooei M, Goudouris E, et al. Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines. J Exp Med. 2019;216(9):2057\u201370.","journal-title":"J Exp Med"},{"issue":"1","key":"1774_CR2","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1093\/cid\/ciaa1790","volume":"74","author":"F Gothe","year":"2022","unstructured":"Gothe F, Hatton CF, Truong L, Klimova Z, Kanderova V, Fejtkova M, et al. A novel case of homozygous Interferon Alpha\/Beta receptor alpha chain (IFNAR1) Deficiency with Hemophagocytic Lymphohistiocytosis. Clin Infect Dis. 2022;74(1):136\u20139.","journal-title":"Clin Infect Dis"},{"issue":"5","key":"1774_CR3","doi-asserted-by":"publisher","first-page":"1039","DOI":"10.1002\/eji.202048793","volume":"51","author":"I Meyts","year":"2021","unstructured":"Meyts I, Casanova JL. Viral infections in humans and mice with genetic deficiencies of the type I IFN response pathway. Eur J Immunol. 2021;51(5):1039\u201361.","journal-title":"Eur J Immunol"},{"key":"1774_CR4","unstructured":"Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J et al. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science. 2020;370(6515)."},{"key":"1774_CR5","unstructured":"Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T et al. Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. J Exp Med. 2022;219(8)."},{"issue":"4","key":"1774_CR6","doi-asserted-by":"publisher","first-page":"832","DOI":"10.1016\/j.jaci.2023.02.003","volume":"151","author":"G Bucciol","year":"2023","unstructured":"Bucciol G, Human Genetic COVID, Effort, Meyts I. Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children. J Allergy Clin Immunol. 2023;151(4):832\u201340.","journal-title":"J Allergy Clin Immunol"},{"key":"1774_CR7","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1016\/j.coi.2019.03.008","volume":"59","author":"SY Zhang","year":"2019","unstructured":"Zhang SY, Jouanguy E, Zhang Q, Abel L, Puel A, Casanova JL. Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism. Curr Opin Immunol. 2019;59:88\u2013100.","journal-title":"Curr Opin Immunol"},{"issue":"4","key":"1774_CR8","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1016\/j.jaci.2022.11.010","volume":"151","author":"SG Tangye","year":"2023","unstructured":"Tangye SG. Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity. J Allergy Clin Immunol. 2023;151(4):818\u201331.","journal-title":"J Allergy Clin Immunol"},{"issue":"307","key":"1774_CR9","doi-asserted-by":"publisher","first-page":"307ra154","DOI":"10.1126\/scitranslmed.aac4227","volume":"7","author":"CJ Duncan","year":"2015","unstructured":"Duncan CJ, Mohamad SM, Young DF, Skelton AJ, Leahy TR, Munday DC, et al. Human IFNAR2 deficiency: lessons for antiviral immunity. Sci Transl Med. 2015;7(307):307ra154.","journal-title":"Sci Transl Med"},{"key":"1774_CR10","doi-asserted-by":"crossref","unstructured":"Duncan CJA, Skouboe MK, Howarth S, Hollensen AK, Chen R, Borresen ML et al. Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic. J Exp Med. 2022;219(6).","DOI":"10.1084\/jem.20212427"},{"key":"1774_CR11","unstructured":"Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y et al. Autoantibodies against type I IFNs in patients with life-threatening COVID-19. Science. 2020;370(6515)."},{"key":"1774_CR12","doi-asserted-by":"crossref","unstructured":"Bastard P, Michailidis E, Hoffmann HH, Chbihi M, Le Voyer T, Rosain J et al. Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine. J Exp Med. 2021;218(4).","DOI":"10.1084\/jem.20202486"},{"key":"1774_CR13","unstructured":"Bastard P, Gervais A, Taniguchi M, Saare L, Sarekannu K, Le Voyer T et al. Higher COVID-19 pneumonia risk associated with anti-IFN-alpha than with anti-IFN-omega auto-abs in children. J Exp Med. 2024;221(2)."},{"key":"1774_CR14","doi-asserted-by":"crossref","unstructured":"Meyts I. Null IFNAR1 and IFNAR2 alleles are surprisingly common in the Pacific and Arctic. J Exp Med. 2022;219(6).","DOI":"10.1084\/jem.20220491"},{"key":"1774_CR15","unstructured":"Bastard P, Hsiao KC, Zhang Q, Choin J, Best E, Chen J et al. A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes. J Exp Med. 2022;219(6)."},{"issue":"7993","key":"1774_CR16","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1038\/s41586-023-06045-0","volume":"625","author":"S Chen","year":"2024","unstructured":"Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, et al. A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024;625(7993):92\u2013100.","journal-title":"Nature"},{"issue":"1","key":"1774_CR17","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1084\/jem.20091706","volume":"207","author":"DT Avery","year":"2010","unstructured":"Avery DT, Deenick EK, Ma CS, Suryani S, Simpson N, Chew GY, et al. B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans. J Exp Med. 2010;207(1):155\u201371.","journal-title":"J Exp Med"},{"key":"1774_CR18","doi-asserted-by":"crossref","unstructured":"Pillay BA, Avery DT, Smart JM, Cole T, Choo S, Chan D et al. Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients. JCI Insight. 2019;5(11).","DOI":"10.1172\/jci.insight.127527"},{"key":"1774_CR19","doi-asserted-by":"crossref","unstructured":"Pillay BA, Fusaro M, Gray PE, Statham AL, Burnett L, Bezrodnik L et al. Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency. J Clin Invest. 2021;131(3).","DOI":"10.1172\/JCI142434"},{"issue":"3","key":"1774_CR20","doi-asserted-by":"publisher","first-page":"933","DOI":"10.1016\/j.jaci.2016.07.016","volume":"139","author":"SG Tangye","year":"2017","unstructured":"Tangye SG, Pillay B, Randall KL, Avery DT, Phan TG, Gray P, et al. Dedicator of cytokinesis 8-deficient CD4(+) T cells are biased to a T(H)2 effector fate at the expense of T(H)1 and T(H)17 cells. J Allergy Clin Immunol. 2017;139(3):933\u201349.","journal-title":"J Allergy Clin Immunol"},{"issue":"1","key":"1774_CR21","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1007\/s10875-021-01152-x","volume":"42","author":"SG Tangye","year":"2022","unstructured":"Tangye SG, Gray PE, Pillay BA, Yap JY, Figgett WA, Reeves J, et al. Hyper-IgE syndrome due to an Elusive Novel Intronic homozygous variant in DOCK8. J Clin Immunol. 2022;42(1):119\u201329.","journal-title":"J Clin Immunol"},{"issue":"11","key":"1774_CR22","doi-asserted-by":"publisher","first-page":"2305","DOI":"10.1084\/jem.20110345","volume":"208","author":"KL Randall","year":"2011","unstructured":"Randall KL, Chan SS, Ma CS, Fung I, Mei Y, Yabas M, et al. DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice. J Exp Med. 2011;208(11):2305\u201320.","journal-title":"J Exp Med"},{"key":"1774_CR23","doi-asserted-by":"crossref","unstructured":"Summers KM. Genetic models of fibrillinopathies. Genetics. 2024;226(1).","DOI":"10.1093\/genetics\/iyad189"},{"issue":"2","key":"1774_CR24","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1038\/nmeth.3739","volume":"13","author":"Y Itan","year":"2016","unstructured":"Itan Y, Shang L, Boisson B, Ciancanelli MJ, Markle JG, Martinez-Barricarte R, et al. The mutation significance cutoff: gene-level thresholds for variant predictions. Nat Methods. 2016;13(2):109\u201310.","journal-title":"Nat Methods"},{"issue":"3","key":"1774_CR25","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng.2892","volume":"46","author":"M Kircher","year":"2014","unstructured":"Kircher M, Witten DM, Jain P, O\u2019Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46(3):310\u20135.","journal-title":"Nat Genet"},{"issue":"1","key":"1774_CR26","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1038\/s41467-019-14079-0","volume":"11","author":"M Pinese","year":"2020","unstructured":"Pinese M, Lacaze P, Rath EM, Stone A, Brion MJ, Ameur A, et al. The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly. Nat Commun. 2020;11(1):435.","journal-title":"Nat Commun"},{"issue":"7855","key":"1774_CR27","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1038\/s41586-021-03236-5","volume":"592","author":"J Choin","year":"2021","unstructured":"Choin J, Mendoza-Revilla J, Arauna LR, Cuadros-Espinoza S, Cassar O, Larena M, et al. Genomic insights into population history and biological adaptation in Oceania. Nature. 2021;592(7855):583\u20139.","journal-title":"Nature"},{"issue":"3","key":"1774_CR28","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1016\/j.clim.2012.03.002","volume":"143","author":"W Al-Herz","year":"2012","unstructured":"Al-Herz W, Ragupathy R, Massaad MJ, Al-Attiyah R, Nanda A, Engelhardt KR, et al. Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait. Clin Immunol. 2012;143(3):266\u201372.","journal-title":"Clin Immunol"},{"issue":"2","key":"1774_CR29","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1016\/j.jaci.2014.12.1945","volume":"136","author":"KR Engelhardt","year":"2015","unstructured":"Engelhardt KR, Gertz ME, Keles S, Schaffer AA, Sigmund EC, Glocker C, et al. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2015;136(2):402\u201312.","journal-title":"J Allergy Clin Immunol"},{"issue":"1","key":"1774_CR30","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1111\/imr.12723","volume":"287","author":"HC Su","year":"2019","unstructured":"Su HC, Jing H, Angelus P, Freeman AF. Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome. Immunol Rev. 2019;287(1):9\u201319.","journal-title":"Immunol Rev"},{"issue":"2","key":"1774_CR31","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1007\/s10875-014-0126-0","volume":"35","author":"SE Aydin","year":"2015","unstructured":"Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol. 2015;35(2):189\u201398.","journal-title":"J Clin Immunol"},{"issue":"21","key":"1774_CR32","doi-asserted-by":"publisher","first-page":"2046","DOI":"10.1056\/NEJMoa0905506","volume":"361","author":"Q Zhang","year":"2009","unstructured":"Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009;361(21):2046\u201355.","journal-title":"N Engl J Med"},{"issue":"4","key":"1774_CR33","doi-asserted-by":"publisher","first-page":"1450","DOI":"10.1016\/j.jaci.2017.06.049","volume":"141","author":"H Abolhassani","year":"2018","unstructured":"Abolhassani H, Chou J, Bainter W, Platt CD, Tavassoli M, Momen T, et al. Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency. J Allergy Clin Immunol. 2018;141(4):1450\u20138.","journal-title":"J Allergy Clin Immunol"},{"issue":"1","key":"1774_CR34","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1186\/s13073-019-0649-3","volume":"11","author":"P Arts","year":"2019","unstructured":"Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, et al. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies. Genome Med. 2019;11(1):38.","journal-title":"Genome Med"},{"issue":"6","key":"1774_CR35","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1007\/s10875-019-00656-x","volume":"39","author":"HAF Yska","year":"2019","unstructured":"Yska HAF, Elsink K, Kuijpers TW, Frederix GWJ, van Gijn ME, van Montfrans JM. Diagnostic yield of Next Generation sequencing in genetically undiagnosed patients with primary immunodeficiencies: a systematic review. J Clin Immunol. 2019;39(6):577\u201391.","journal-title":"J Clin Immunol"},{"issue":"1","key":"1774_CR36","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1016\/j.jaci.2016.05.042","volume":"139","author":"A Stray-Pedersen","year":"2017","unstructured":"Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, et al. Primary immunodeficiency diseases: genomic approaches delineate heterogeneous mendelian disorders. J Allergy Clin Immunol. 2017;139(1):232\u201345.","journal-title":"J Allergy Clin Immunol"},{"issue":"2","key":"1774_CR37","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1007\/s12016-021-08838-5","volume":"61","author":"EE Vorsteveld","year":"2021","unstructured":"Vorsteveld EE, Hoischen A, van der Made CI. Next-generation sequencing in the field of primary immunodeficiencies: current yield, challenges, and future perspectives. Clin Rev Allergy Immunol. 2021;61(2):212\u201325.","journal-title":"Clin Rev Allergy Immunol"},{"issue":"2","key":"1774_CR38","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1016\/j.jaci.2020.06.011","volume":"147","author":"KE Sullivan","year":"2021","unstructured":"Sullivan KE. The scary world of variants of uncertain significance (VUS): a hitchhiker\u2019s guide to interpretation. J Allergy Clin Immunol. 2021;147(2):492\u20134.","journal-title":"J Allergy Clin Immunol"},{"issue":"12","key":"1774_CR39","doi-asserted-by":"publisher","first-page":"4415","DOI":"10.1172\/JCI93486","volume":"127","author":"R Hoyos-Bachiloglu","year":"2017","unstructured":"Hoyos-Bachiloglu R, Chou J, Sodroski CN, Beano A, Bainter W, Angelova M, et al. A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations. J Clin Invest. 2017;127(12):4415\u201320.","journal-title":"J Clin Invest"},{"issue":"1","key":"1774_CR40","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1007\/s10875-023-01637-x","volume":"44","author":"MWY Li","year":"2024","unstructured":"Li MWY, Burnett L, Dai P, Avery DT, Noori T, Voskoboinik I, et al. Filaggrin-Associated atopic skin, Eye, Airways, and Gut Disease, modifying the presentation of X-Linked reticular pigmentary disorder (XLPDR). J Clin Immunol. 2024;44(1):38.","journal-title":"J Clin Immunol"},{"issue":"6\u20137","key":"1774_CR41","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1007\/s00439-019-02108-3","volume":"139","author":"Q Zhang","year":"2020","unstructured":"Zhang Q. Human genetics of life-threatening influenza pneumonitis. Hum Genet. 2020;139(6\u20137):941\u20138.","journal-title":"Hum Genet"},{"key":"1774_CR42","doi-asserted-by":"crossref","unstructured":"Bucciol G, Moens L, Ogishi M, Rinchai D, Matuozzo D, Momenilandi M et al. Human inherited complete STAT2 deficiency underlies inflammatory viral diseases. J Clin Invest. 2023;133(12).","DOI":"10.1172\/JCI168321"},{"issue":"10","key":"1774_CR43","doi-asserted-by":"publisher","first-page":"1856","DOI":"10.1002\/humu.23821","volume":"40","author":"JH Lin","year":"2019","unstructured":"Lin JH, Tang XY, Boulling A, Zou WB, Masson E, Fichou Y, et al. First estimate of the scale of canonical 5\u2019 splice site GT\u2009>\u2009GC variants capable of generating wild-type transcripts. Hum Mutat. 2019;40(10):1856\u201373.","journal-title":"Hum Mutat"},{"issue":"3","key":"1774_CR44","first-page":"100299","volume":"5","author":"RY Oh","year":"2024","unstructured":"Oh RY, AlMail A, Cheerie D, Guirguis G, Hou H, Yuki KE, et al. A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods. HGG Adv. 2024;5(3):100299.","journal-title":"HGG Adv"},{"issue":"1","key":"1774_CR45","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1016\/j.pathol.2023.09.006","volume":"56","author":"ST Woon","year":"2024","unstructured":"Woon ST, Tjandra F, Mackay J, Lumley T, Grainger P, Wood A, et al. Detection of interferon alpha and beta receptor subunit 1 (IFNAR1) loss-of-function Glu386 * variant by tri-allelic genotyping. Pathology. 2024;56(1):92\u20137.","journal-title":"Pathology"}],"updated-by":[{"DOI":"10.1007\/s10875-024-01801-x","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2024,9,19]],"date-time":"2024-09-19T00:00:00Z","timestamp":1726704000000}}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-024-01774-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10875-024-01774-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-024-01774-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T04:41:54Z","timestamp":1730436114000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10875-024-01774-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,5]]},"references-count":45,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["1774"],"URL":"https:\/\/doi.org\/10.1007\/s10875-024-01774-x","relation":{"correction":[{"id-type":"doi","id":"10.1007\/s10875-024-01801-x","asserted-by":"object"}]},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,5]]},"assertion":[{"value":"21 March 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 July 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 August 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 September 2024","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1007\/s10875-024-01801-x","URL":"https:\/\/doi.org\/10.1007\/s10875-024-01801-x","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the Sydney Local Health District RPAH Zone Human Research Ethics Committee and Research Governance Office, Royal Prince Alfred Hospital, Camperdown, NSW, Australia (Protocols X16-0210\/LNR\/16\/RPAH\/257 and X16-0210 & 2019\/ETH06359); and St Vincent\u2019s Hospital (Darlinghurst, NSW, Australia) Human Research Ethics Committee (Protocol X20-0177 & 2020\/ETH00998). Written informed consent was obtained from participants or their guardians. Experiments using samples from human subjects were conducted in accordance with local regulations and with the approval of the IRBs of corresponding institutions.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"Written informed consent was obtained from participants or their guardians.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"Patients\/guardians signed informed consent regarding publishing their data.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Publish"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"170"}}