{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T13:24:49Z","timestamp":1780406689393,"version":"3.54.1"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2021,7,16]],"date-time":"2021-07-16T00:00:00Z","timestamp":1626393600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,7,16]],"date-time":"2021-07-16T00:00:00Z","timestamp":1626393600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"name":"Ministry of Education and Science of Russia","award":["0112-2019-0002"],"award-info":[{"award-number":["0112-2019-0002"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2021,9]]},"DOI":"10.1007\/s00439-021-02316-w","type":"journal-article","created":{"date-parts":[[2021,7,16]],"date-time":"2021-07-16T22:02:43Z","timestamp":1626472963000},"page":"1379-1393","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD\u00ae and dbSNP databases"],"prefix":"10.1007","volume":"140","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9671-335X","authenticated-orcid":false,"given":"Lyubov E.","family":"Salnikova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4225-2057","authenticated-orcid":false,"given":"Dmitry S.","family":"Kolobkov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3051-6756","authenticated-orcid":false,"given":"Darya A.","family":"Sviridova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8636-6828","authenticated-orcid":false,"given":"Serikbai K.","family":"Abilev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,7,16]]},"reference":[{"issue":"7571","key":"2316_CR1","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/nature15393","volume":"526","author":"A Auton","year":"2015","unstructured":"1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR (2015) A global reference for human genetic variation. Nature 526(7571):68\u201374. https:\/\/doi.org\/10.1038\/nature15393","journal-title":"Nature"},{"issue":"7","key":"2316_CR2","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1080\/1744666X.2020.1801422","volume":"16","author":"H Abolhassani","year":"2020","unstructured":"Abolhassani H, Azizi G, Sharifi L, Yazdani R, Mohsenzadegan M, Delavari S, Sohani M, Shirmast P, Chavoshzadeh Z, Mahdaviani SA, Kalantari A, Tavakol M, Jabbari-Azad F, Ahanchian H, Momen T, Sherkat R, Sadeghi-Shabestari M, Aleyasin S, Esmaeilzadeh H, Al-Herz W, Bousfiha AA, Condino-Neto A, Sepp\u00e4nen M, Sullivan KE, Hammarstr\u00f6m L, Modell V, Modell F, Quinn J, Orange JS, Aghamohammadi A (2020) Global systematic review of primary immunodeficiency registries. Expert Rev Clin Immunol 16(7):717\u2013732. https:\/\/doi.org\/10.1080\/1744666X.2020.1801422","journal-title":"Expert Rev Clin Immunol"},{"issue":"1","key":"2316_CR3","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1093\/bfgp\/ely033","volume":"18","author":"D Alyousfi","year":"2019","unstructured":"Alyousfi D, Baralle D, Collins A (2019) Gene-specific metrics to facilitate identification of disease genes for molecular diagnosis in patient genomes: a systematic review. Brief Funct Genom 18(1):23\u201329. https:\/\/doi.org\/10.1093\/bfgp\/ely033","journal-title":"Brief Funct Genom"},{"key":"2316_CR4","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1038\/s41525-018-0044-9","volume":"3","author":"D Anderson","year":"2018","unstructured":"Anderson D, Lassmann T (2018) A phenotype centric benchmark of variant prioritisation tools. NPJ Genom Med 3:5. https:\/\/doi.org\/10.1038\/s41525-018-0044-9","journal-title":"NPJ Genom Med"},{"issue":"Suppl 5","key":"2316_CR5","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1186\/s12864-017-3911-3","volume":"18","author":"G Babbi","year":"2017","unstructured":"Babbi G, Martelli PL, Profiti G, Bovo S, Savojardo C, Casadio R (2017) eDGAR: a database of Disease-Gene Associations with annotated Relationships among genes. BMC Genom 18(Suppl 5):554. https:\/\/doi.org\/10.1186\/s12864-017-3911-3","journal-title":"BMC Genom"},{"issue":"1","key":"2316_CR6","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10875-012-9751-7","volume":"33","author":"AA Bousfiha","year":"2013","unstructured":"Bousfiha AA, Jeddane L, Ailal F, Benhsaien I, Mahlaoui N, Casanova JL, Abel L (2013) Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immunol 33(1):1\u20137. https:\/\/doi.org\/10.1007\/s10875-012-9751-7","journal-title":"J Clin Immunol"},{"issue":"1","key":"2316_CR7","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1007\/s10875-020-00758-x","volume":"40","author":"A Bousfiha","year":"2020","unstructured":"Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Torgerson TR, Casanova JL, Sullivan KE, Tangye SG (2020) Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol 40(1):66\u201381. https:\/\/doi.org\/10.1007\/s10875-020-00758-x","journal-title":"J Clin Immunol"},{"key":"2316_CR8","doi-asserted-by":"publisher","unstructured":"Bucciol G, Meyts I (2020) Recent advances in primary immunodeficiency: from molecular diagnosis to treatment. F1000Res. 9:F1000 Faculty Rev-194. https:\/\/doi.org\/10.12688\/f1000research.21553.1","DOI":"10.12688\/f1000research.21553.1"},{"issue":"1","key":"2316_CR9","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1093\/bib\/bbt091","volume":"16","author":"A Collins","year":"2015","unstructured":"Collins A (2015) The genomic and functional characteristics of disease genes. Brief Bioinform 16(1):16\u201323. https:\/\/doi.org\/10.1093\/bib\/bbt091","journal-title":"Brief Bioinform"},{"issue":"10","key":"2316_CR10","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1007\/s00439-013-1331-2","volume":"132","author":"DN Cooper","year":"2013","unstructured":"Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H (2013) Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet 132(10):1077\u20131130. https:\/\/doi.org\/10.1007\/s00439-013-1331-2","journal-title":"Hum Genet"},{"key":"2316_CR12","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1038\/s41525-019-0081-z","volume":"4","author":"R Dawes","year":"2019","unstructured":"Dawes R, Lek M, Cooper ST (2019) Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality. NPJ Genom Med 4:8. https:\/\/doi.org\/10.1038\/s41525-019-0081-z","journal-title":"NPJ Genom Med"},{"key":"2316_CR13","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1146\/annurev.genet.40.110405.090439","volume":"41","author":"K Dolinski","year":"2007","unstructured":"Dolinski K, Botstein D (2007) Orthology and functional conservation in eukaryotes. Annu Rev Genet 41:465\u2013507. https:\/\/doi.org\/10.1146\/annurev.genet.40.110405.090439","journal-title":"Annu Rev Genet"},{"issue":"1","key":"2316_CR14","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1111\/cei.12172","volume":"175","author":"JD Edgar","year":"2014","unstructured":"Edgar JD, Buckland M, Guzman D, Conlon NP, Knerr V, Bangs C, Reiser V, Panahloo Z, Workman S, Slatter M, Gennery AR, Davies EG, Allwood Z, Arkwright PD, Helbert M, Longhurst HJ, Grigoriadou S, Devlin LA, Huissoon A, Krishna MT, Hackett S, Kumararatne DS, Condliffe AM, Baxendale H, Henderson K, Bethune C, Symons C, Wood P, Ford K, Patel S, Jain R, Jolles S, El-Shanawany T, Alachkar H, Herwadkar A, Sargur R, Shrimpton A, Hayman G, Abuzakouk M, Spickett G, Darroch CJ, Paulus S, Marshall SE, McDermott EM, Heath PT, Herriot R, Noorani S, Turner M, Khan S, Grimbacher B (2014) The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years\u2019 activity 2008\u20132012. Clin Exp Immunol 175(1):68\u201378. https:\/\/doi.org\/10.1111\/cei.12172","journal-title":"Clin Exp Immunol"},{"issue":"10","key":"2316_CR15","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1038\/nrg.2017.52","volume":"18","author":"K Eilbeck","year":"2017","unstructured":"Eilbeck K, Quinlan A, Yandell M (2017) Settling the score: variant prioritization and Mendelian disease. Nat Rev Genet 18(10):599\u2013612. https:\/\/doi.org\/10.1038\/nrg.2017.52","journal-title":"Nat Rev Genet"},{"issue":"2","key":"2316_CR16","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1016\/j.it.2015.12.006","volume":"37","author":"N Fodil","year":"2016","unstructured":"Fodil N, Langlais D, Gros P (2016) Primary immunodeficiencies and inflammatory disease: a growing genetic intersection. Trends Immunol 37(2):126\u2013140. https:\/\/doi.org\/10.1016\/j.it.2015.12.006","journal-title":"Trends Immunol"},{"issue":"W1","key":"2316_CR17","doi-asserted-by":"publisher","first-page":"W60","DOI":"10.1093\/nar\/gky311","volume":"46","author":"M Franz","year":"2018","unstructured":"Franz M, Rodriguez H, Lopes C, Zuberi K, Montojo J, Bader GD, Morris Q (2018) GeneMANIA update 2018. Nucleic Acids Res 46(W1):W60\u2013W64. https:\/\/doi.org\/10.1093\/nar\/gky311","journal-title":"Nucleic Acids Res"},{"issue":"2","key":"2316_CR18","doi-asserted-by":"publisher","first-page":"372","DOI":"10.1111\/cei.12105","volume":"173","author":"B Gathmann","year":"2013","unstructured":"Gathmann B, Goldacker S, Klima M, Belohradsky BH, Notheis G, Ehl S, Ritterbusch H, Baumann U, Meyer-Bahlburg A, Witte T, Schmidt R, Borte M, Borte S, Linde R, Schubert R, Bienemann K, Laws HJ, Dueckers G, Roesler J, Rothoeft T, Kr\u00fcger R, Scharbatke EC, Masjosthusmann K, Wasmuth JC, Moser O, Kaiser P, Gro\u00df-Wieltsch U, Classen CF, Horneff G, Reiser V, Binder N, El-Helou SM, Klein C, Grimbacher B, Kindle G (2013) The German national registry for primary immunodeficiencies (PID). Clin Exp Immunol 173(2):372\u2013380. https:\/\/doi.org\/10.1111\/cei.12105","journal-title":"Clin Exp Immunol"},{"issue":"6\u20137","key":"2316_CR19","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1007\/s00439-020-02131-9","volume":"139","author":"C Gruber","year":"2020","unstructured":"Gruber C, Bogunovic D (2020) Incomplete penetrance in primary immunodeficiency: a skeleton in the closet. Hum Genet 139(6\u20137):745\u2013757. https:\/\/doi.org\/10.1007\/s00439-020-02131-9","journal-title":"Hum Genet"},{"issue":"20","key":"2316_CR20","doi-asserted-by":"publisher","first-page":"3065","DOI":"10.1093\/bioinformatics\/btw381","volume":"32","author":"JS Hsu","year":"2016","unstructured":"Hsu JS, Kwan JS, Pan Z, Garcia-Barcelo MM, Sham PC, Li M (2016) Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes. Bioinformatics 32(20):3065\u20133071. https:\/\/doi.org\/10.1093\/bioinformatics\/btw381","journal-title":"Bioinformatics"},{"issue":"7809","key":"2316_CR21","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alf\u00f6ldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O\u2019Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Genome Aggregation Database Consortium, Neale BM, Daly MJ, MacArthur DG (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581(7809):434\u2013443. https:\/\/doi.org\/10.1038\/s41586-020-2308-7","journal-title":"Nature"},{"key":"2316_CR22","doi-asserted-by":"publisher","first-page":"bar030","DOI":"10.1093\/database\/bar030","volume":"2011","author":"RJ Kinsella","year":"2011","unstructured":"Kinsella RJ, K\u00e4h\u00e4ri A, Haider S, Zamora J, Proctor G, Spudich G, Almeida-King J, Staines D, Derwent P, Kerhornou A, Kersey P, Flicek P (2011) Ensembl BioMarts: a hub for data retrieval across taxonomic space. Database (oxford) 2011:bar030. https:\/\/doi.org\/10.1093\/database\/bar030","journal-title":"Database (oxford)"},{"issue":"D1","key":"2316_CR23","doi-asserted-by":"publisher","first-page":"D835","DOI":"10.1093\/nar\/gkz972","volume":"48","author":"MJ Landrum","year":"2020","unstructured":"Landrum MJ, Chitipiralla S, Brown GR, Chen C, Gu B, Hart J, Hoffman D, Jang W, Kaur K, Liu C, Lyoshin V, Maddipatla Z, Maiti R, Mitchell J, O\u2019Leary N, Riley GR, Shi W, Zhou G, Schneider V, Maglott D, Holmes JB, Kattman BL (2020) ClinVar: improvements to accessing data. Nucleic Acids Res 48(D1):D835\u2013D844. https:\/\/doi.org\/10.1093\/nar\/gkz972","journal-title":"Nucleic Acids Res"},{"issue":"7616","key":"2316_CR24","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O\u2019Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG, Exome Aggregation Consortium (2016) Analysis of protein-coding genetic variation in 60,706 humans. Nature 536(7616):285\u2013291. https:\/\/doi.org\/10.1038\/nature19057","journal-title":"Nature"},{"issue":"1","key":"2316_CR25","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1186\/s13073-020-00803-9","volume":"12","author":"X Liu","year":"2020","unstructured":"Liu X, Li C, Mou C, Dong Y, Tu Y (2020) dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. Genome Med 12(1):103. https:\/\/doi.org\/10.1186\/s13073-020-00803-9","journal-title":"Genome Med"},{"issue":"6070","key":"2316_CR26","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1126\/science.1215040","volume":"335","author":"DG MacArthur","year":"2012","unstructured":"MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZD, Conrad DF, Lunter G, Zheng H, Ayub Q, DePristo MA, Banks E, Hu M, Handsaker RE, Rosenfeld JA, Fromer M, Jin M, Mu XJ, Khurana E, Ye K, Kay M, Saunders GI, Suner MM, Hunt T, Barnes IH, Amid C, Carvalho-Silva DR, Bignell AH, Snow C, Yngvadottir B, Bumpstead S, Cooper DN, Xue Y, Romero IG, 1000 Genomes Project Consortium, Wang J, Li Y, Gibbs RA, McCarroll SA, Dermitzakis ET, Pritchard JK, Barrett JC, Harrow J, Hurles ME, Gerstein MB, Tyler-Smith C (2012) A systematic survey of loss-of-function variants in human protein-coding genes. Science 335(6070):823\u2013828. https:\/\/doi.org\/10.1126\/science.1215040","journal-title":"Science"},{"key":"2316_CR27","doi-asserted-by":"publisher","first-page":"37298","DOI":"10.1038\/srep37298","volume":"6","author":"CL McCafferty","year":"2016","unstructured":"McCafferty CL, Sergeev YV (2016) In silico mapping of protein unfolding mutations for inherited disease. Sci Rep 6:37298. https:\/\/doi.org\/10.1038\/srep37298","journal-title":"Sci Rep"},{"issue":"3","key":"2316_CR28","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1186\/gm543","volume":"6","author":"DJ McCarthy","year":"2014","unstructured":"McCarthy DJ, Humburg P, Kanapin A, Rivas MA, Gaulton K, Cazier JB, Donnelly P (2014) Choice of transcripts and software has a large effect on variant annotation. Genome Med. 6(3):26. https:\/\/doi.org\/10.1186\/gm543","journal-title":"Genome Med."},{"issue":"1","key":"2316_CR29","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","volume":"17","author":"W McLaren","year":"2016","unstructured":"McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GR, Thormann A, Flicek P, Cunningham F (2016) The ensembl variant effect predictor. Genome Biol 17(1):122. https:\/\/doi.org\/10.1186\/s13059-016-0974-4","journal-title":"Genome Biol"},{"issue":"37","key":"2316_CR30","doi-asserted-by":"publisher","first-page":"E5189","DOI":"10.1073\/pnas.1511585112","volume":"112","author":"LA Miosge","year":"2015","unstructured":"Miosge LA, Field MA, Sontani Y, Cho V, Johnson S, Palkova A, Balakishnan B, Liang R, Zhang Y, Lyon S, Beutler B, Whittle B, Bertram EM, Enders A, Goodnow CC, Andrews TD (2015) Comparison of predicted and actual consequences of missense mutations. Proc Natl Acad Sci USA 112(37):E5189\u2013E5198. https:\/\/doi.org\/10.1073\/pnas.1511585112","journal-title":"Proc Natl Acad Sci USA"},{"issue":"4","key":"2316_CR31","first-page":"81","volume":"2","author":"MS Ozcomak","year":"2013","unstructured":"Ozcomak MS, Kartal M, Senger O, Celik AK (2013) Comparison of the powers of the Kolmogorov-Smirnov two-sample test and the Mann-Whitney test for different Kurtosis and Skewness coefficients using the Monte Carlo simulation method. J Stat Econ Methods 2(4):81\u201398","journal-title":"J Stat Econ Methods"},{"issue":"8","key":"2316_CR32","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003709","volume":"9","author":"S Petrovski","year":"2013","unstructured":"Petrovski S, Wang Q, Heinzen EL, Allen AS, Goldstein DB (2013) Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet 9(8):e1003709. https:\/\/doi.org\/10.1371\/journal.pgen.1003709","journal-title":"PLoS Genet"},{"issue":"24","key":"2316_CR33","doi-asserted-by":"publisher","first-page":"13626","DOI":"10.1073\/pnas.1917993117","volume":"117","author":"A Rausell","year":"2020","unstructured":"Rausell A, Luo Y, Lopez M, Seeleuthner Y, Rapaport F, Favier A, Stenson PD, Cooper DN, Patin E, Casanova JL, Quintana-Murci L, Abel L (2020) Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. Proc Natl Acad Sci USA 117(24):13626\u201313636","journal-title":"Proc Natl Acad Sci USA"},{"issue":"5","key":"2316_CR34","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, Laboratory Quality Assurance Committee ACMG (2015) 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. Genet Med 17(5):405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"2316_CR35","doi-asserted-by":"publisher","first-page":"2475","DOI":"10.3389\/fimmu.2019.02475","volume":"10","author":"LE Salnikova","year":"2019","unstructured":"Salnikova LE, Chernyshova EV, Anastasevich LA, Larin SS (2019) Gene- and disease-based expansion of the knowledge on inborn errors of immunity. Front Immunol 10:2475. https:\/\/doi.org\/10.3389\/fimmu.2019.02475","journal-title":"Front Immunol"},{"issue":"4","key":"2316_CR36","doi-asserted-by":"publisher","first-page":"1076","DOI":"10.1016\/j.jmb.2007.12.027","volume":"376","author":"KT Sapra","year":"2008","unstructured":"Sapra KT, Balasubramanian GP, Labudde D, Bowie JU, Muller DJ (2008) Point mutations in membrane proteins reshape energy landscape and populate different unfolding pathways. J Mol Biol 376(4):1076\u20131090. https:\/\/doi.org\/10.1016\/j.jmb.2007.12.027","journal-title":"J Mol Biol"},{"issue":"6","key":"2316_CR37","doi-asserted-by":"publisher","first-page":"1763","DOI":"10.1016\/j.jaip.2019.02.004","volume":"7","author":"MG Seidel","year":"2019","unstructured":"Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, Scheible R, Rusch S, Gasteiger LM, Grimbacher B, Mahlaoui N, Ehl S, ESID Registry Working Party Collaborators (2019) The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the clinical diagnosis of inborn errors of immunity. J Allergy Clin Immunol Pract 7(6):1763\u20131770. https:\/\/doi.org\/10.1016\/j.jaip.2019.02.004","journal-title":"J Allergy Clin Immunol Pract"},{"issue":"10","key":"2316_CR38","doi-asserted-by":"publisher","first-page":"1197","DOI":"10.1007\/s00439-020-02199-3","volume":"139","author":"PD Stenson","year":"2020","unstructured":"Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN (2020) The Human Gene Mutation Database (HGMD\u00ae): optimizing its use in a clinical diagnostic or research setting. Hum Genet 139(10):1197\u20131207. https:\/\/doi.org\/10.1007\/s00439-020-02199-3","journal-title":"Hum Genet"},{"issue":"1","key":"2316_CR39","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, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, R\u00f8dningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tj\u00f8nnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nord\u00f8y I, J\u00f8rgensen SF, Abrahamsen TG, \u00d8verland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flat\u00f8 B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR (2017) Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol 139(1):232\u2013245. https:\/\/doi.org\/10.1016\/j.jaci.2016.05.042","journal-title":"J Allergy Clin Immunol"},{"issue":"1","key":"2316_CR40","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1007\/s10875-019-00737-x","volume":"40","author":"SG Tangye","year":"2020","unstructured":"Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Picard C, Puck J, Torgerson TR, Casanova JL, Sullivan KE (2020) Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 40(1):24\u201364. https:\/\/doi.org\/10.1007\/s10875-019-00737-x","journal-title":"J Clin Immunol"},{"issue":"7814","key":"2316_CR11","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1038\/s41586-020-2265-1","volume":"583","author":"JED Thaventhiran","year":"2020","unstructured":"Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F, Primary Immunodeficiency Consortium for the NIHR Bioresource, Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC (2020) Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature 583(7814):90\u201395. https:\/\/doi.org\/10.1038\/s41586-020-2265-1","journal-title":"Nature"},{"issue":"15","key":"2316_CR47","doi-asserted-by":"publisher","first-page":"9854","DOI":"10.1093\/nar\/gku667","volume":"42","author":"A Th\u00e9venin","year":"2014","unstructured":"Th\u00e9venin A, Ein-Dor L, Ozery-Flato M, Shamir R (2014) Functional gene groups are concentrated within chromosomes, among chromosomes and in the nuclear space of the human genome. Nucleic Acids Res 42(15):9854\u20139861. https:\/\/doi.org\/10.1093\/nar\/gku667","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"2316_CR41","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/s13073-019-0616-z","volume":"11","author":"R Walsh","year":"2019","unstructured":"Walsh R, Mazzarotto F, Whiffin N, Buchan R, Midwinter W, Wilk A, Li N, Felkin L, Ingold N, Govind R, Ahmad M, Mazaika E, Allouba M, Zhang X, de Marvao A, Day SM, Ashley E, Colan SD, Michels M, Pereira AC, Jacoby D, Ho CY, Thomson KL, Watkins H, Barton PJR, Olivotto I, Cook SA, Ware JS (2019) Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy. Genome Med 11(1):5. https:\/\/doi.org\/10.1186\/s13073-019-0616-z","journal-title":"Genome Med"},{"key":"2316_CR42","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H (2010) ANNOVAR: Functional annotation of genetic variants from next-generation sequencing data. Nucleic Acids Res 38:e164. https:\/\/doi.org\/10.1093\/nar\/gkq603","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"2316_CR43","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1186\/1756-0381-6-18","volume":"6","author":"D Wolfe","year":"2013","unstructured":"Wolfe D, Dudek S, Ritchie MD, Pendergrass SA (2013) Visualizing genomic information across chromosomes with PhenoGram. BioData Min 6(1):18. https:\/\/doi.org\/10.1186\/1756-0381-6-18","journal-title":"BioData Min"},{"issue":"9","key":"2316_CR44","doi-asserted-by":"publisher","first-page":"1053","DOI":"10.1093\/bioinformatics\/btl673","volume":"23","author":"G Yi","year":"2007","unstructured":"Yi G, Sze SH, Thon MR (2007) Identifying clusters of functionally related genes in genomes. Bioinformatics 23(9):1053\u20131060. https:\/\/doi.org\/10.1093\/bioinformatics\/btl673","journal-title":"Bioinformatics"},{"key":"2316_CR45","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1016\/j.coi.2017.09.002","volume":"48","author":"Q Zhang","year":"2017","unstructured":"Zhang Q, Frange P, Blanche S, Casanova JL (2017) Pathogenesis of infections in HIV-infected individuals: insights from primary immunodeficiencies. Curr Opin Immunol 48:122\u2013133. https:\/\/doi.org\/10.1016\/j.coi.2017.09.002","journal-title":"Curr Opin Immunol"},{"issue":"7","key":"2316_CR46","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1002\/humu.23763","volume":"40","author":"A Ziegler","year":"2019","unstructured":"Ziegler A, Colin E, Gouden\u00e8ge D, Bonneau D (2019) A snapshot of some pLI score pitfalls. Hum Mutat 40(7):839\u2013841. https:\/\/doi.org\/10.1002\/humu.23763","journal-title":"Hum Mutat"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-021-02316-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00439-021-02316-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-021-02316-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,4]],"date-time":"2021-08-04T11:04:54Z","timestamp":1628075094000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00439-021-02316-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,16]]},"references-count":47,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2021,9]]}},"alternative-id":["2316"],"URL":"https:\/\/doi.org\/10.1007\/s00439-021-02316-w","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,16]]},"assertion":[{"value":"23 March 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 July 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 July 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Ethical review\/approval and written informed consent were not required for the study on human participants in accordance with the local legislation and institutional requirements.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Animal research"}},{"value":"All the authors agreed with the content of this manuscript.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"All the authors agreed that this manuscript be submitted to the journal of Human Genetics for publication.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}