{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T00:08:28Z","timestamp":1792714108397,"version":"4.5.0"},"reference-count":46,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2012,10,28]],"date-time":"2012-10-28T00:00:00Z","timestamp":1351382400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2012,10,28]],"date-time":"2012-10-28T00:00:00Z","timestamp":1351382400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Immunol"],"published-print":{"date-parts":[[2012,12]]},"DOI":"10.1038\/ni.2457","type":"journal-article","created":{"date-parts":[[2012,10,29]],"date-time":"2012-10-29T09:58:23Z","timestamp":1351504703000},"page":"1178-1186","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":475,"title":["Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency"],"prefix":"10.1038","volume":"13","author":[{"given":"Bertrand","family":"Boisson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Laplantine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Prando","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Giliani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Israelsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaohui","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avinash","family":"Abhyankar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Isra\u00ebl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giraldina","family":"Trevejo-Nunez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dusan","family":"Bogunovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alma-Martina","family":"Cepika","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna","family":"MacDuff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Chrabieh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjorie","family":"Hubeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Bajolle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Debr\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelina","family":"Mazzolari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donatella","family":"Vairo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrice","family":"Agou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herbert W","family":"Virgin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Bossuyt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Rambaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Facchetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Bonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Quartier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Christophe","family":"Fournet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Pascual","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Chaussabel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi D","family":"Notarangelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Puel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Isra\u00ebl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Capucine","family":"Picard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,10,28]]},"reference":[{"key":"BFni2457_CR1","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1146\/annurev.immunol.25.022106.141627","volume":"27","author":"SL Masters","year":"2009","unstructured":"Masters, S.L., Simon, A., Aksentijevich, I. & Kastner, D.L. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu. Rev. Immunol. 27, 621\u2013668 (2009).","journal-title":"Annu. Rev. Immunol."},{"key":"BFni2457_CR2","doi-asserted-by":"crossref","first-page":"2426","DOI":"10.1056\/NEJMoa0807865","volume":"360","author":"I Aksentijevich","year":"2009","unstructured":"Aksentijevich, I. et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N. Engl. J. Med. 360, 2426\u20132437 (2009).","journal-title":"N. Engl. J. Med."},{"key":"BFni2457_CR3","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0092-8674(00)80721-7","volume":"97","author":"MF McDermott","year":"1999","unstructured":"McDermott, M.F. et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97, 133\u2013144 (1999).","journal-title":"Cell"},{"key":"BFni2457_CR4","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1056\/NEJMoa1102140","volume":"366","author":"MJ Ombrello","year":"2012","unstructured":"Ombrello, M.J. et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N. Engl. J. Med. 366, 330\u2013338 (2012).","journal-title":"N. Engl. J. Med."},{"key":"BFni2457_CR5","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.coi.2003.11.013","volume":"16","author":"A Puel","year":"2004","unstructured":"Puel, A., Picard, C., Ku, C.L., Smahi, A. & Casanova, J.L. Inherited disorders of NF-\u03baB-mediated immunity in man. Curr. Opin. Immunol. 16, 34\u201341 (2004).","journal-title":"Curr. Opin. Immunol."},{"key":"BFni2457_CR6","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/85837","volume":"27","author":"R Doffinger","year":"2001","unstructured":"Doffinger, R. et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-\u03baB signaling. Nat. Genet. 27, 277\u2013285 (2001).","journal-title":"Nat. Genet."},{"key":"BFni2457_CR7","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1172\/JCI18714","volume":"112","author":"G Courtois","year":"2003","unstructured":"Courtois, G. et al. A hypermorphic I\u03baB\u03b1 mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J. Clin. Invest. 112, 1108\u20131115 (2003).","journal-title":"J. Clin. Invest."},{"key":"BFni2457_CR8","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1146\/annurev-immunol-030409-101335","volume":"29","author":"JL Casanova","year":"2011","unstructured":"Casanova, J.L., Abel, L. & Quintana-Murci, L. Human TLRs and IL-1Rs in host defense: natural insights from evolutionary, epidemiological, and clinical genetics. Annu. Rev. Immunol. 29, 447\u2013491 (2011).","journal-title":"Annu. Rev. Immunol."},{"key":"BFni2457_CR9","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1126\/science.1158298","volume":"321","author":"H von Bernuth","year":"2008","unstructured":"von Bernuth, H. et al. Pyogenic bacterial infections in humans with MyD88 deficiency. Science 321, 691\u2013696 (2008).","journal-title":"Science"},{"key":"BFni2457_CR10","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1126\/science.1081902","volume":"299","author":"C Picard","year":"2003","unstructured":"Picard, C. et al. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 299, 2076\u20132079 (2003).","journal-title":"Science"},{"key":"BFni2457_CR11","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1097\/MD.0b013e3181fd8ec3","volume":"89","author":"C Picard","year":"2010","unstructured":"Picard, C. et al. Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine 89, 403\u2013425 (2010).","journal-title":"Medicine"},{"key":"BFni2457_CR12","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1084\/jem.20050854","volume":"202","author":"JL Casanova","year":"2005","unstructured":"Casanova, J.L. & Abel, L. Inborn errors of immunity to infection: the rule rather than the exception. J. Exp. Med. 202, 197\u2013201 (2005).","journal-title":"J. Exp. Med."},{"key":"BFni2457_CR13","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1126\/science.1142963","volume":"317","author":"JL Casanova","year":"2007","unstructured":"Casanova, J.L. & Abel, L. Primary immunodeficiencies: a field in its infancy. Science 317, 617\u2013619 (2007).","journal-title":"Science"},{"key":"BFni2457_CR14","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1128\/CMR.00001-11","volume":"24","author":"C Picard","year":"2011","unstructured":"Picard, C., Casanova, J.L. & Puel, A. Infectious diseases in patients with IRAK-4, MyD88, NEMO, or I\u03baB\u03b1 deficiency. Clin. Microbiol. Rev. 24, 490\u2013497 (2011).","journal-title":"Clin. Microbiol. Rev."},{"issue":"suppl. 7","key":"BFni2457_CR15","doi-asserted-by":"crossref","first-page":"S436","DOI":"10.1086\/431994","volume":"41","author":"H von Bernuth","year":"2005","unstructured":"von Bernuth, H. et al. Septicemia without sepsis: inherited disorders of nuclear factor-\u03baB-mediated inflammation. Clin. Infect. Dis. 41 (suppl. 7), S436\u2013S439 (2005).","journal-title":"Clin. Infect. Dis."},{"key":"BFni2457_CR16","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1038\/ncb1821","volume":"11","author":"F Tokunaga","year":"2009","unstructured":"Tokunaga, F. et al. Involvement of linear polyubiquitylation of NEMO in NF-\u03baB activation. Nat. Cell Biol. 11, 123\u2013132 (2009).","journal-title":"Nat. Cell Biol."},{"key":"BFni2457_CR17","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1038\/embor.2009.144","volume":"10","author":"K Iwai","year":"2009","unstructured":"Iwai, K. & Tokunaga, F. Linear polyubiquitination: a new regulator of NF-\u03baB activation. EMBO Rep. 10, 706\u2013713 (2009).","journal-title":"EMBO Rep."},{"key":"BFni2457_CR18","doi-asserted-by":"crossref","first-page":"R215","DOI":"10.1093\/hmg\/ddi268","volume":"14","author":"LE Vissers","year":"2005","unstructured":"Vissers, L.E., Veltman, J.A., van Kessel, A.G. & Brunner, H.G. Identification of disease genes by whole genome CGH arrays. Hum. Mol. Genet. 14, R215\u2013R223 (2005).","journal-title":"Hum. Mol. Genet."},{"key":"BFni2457_CR19","doi-asserted-by":"crossref","first-page":"2307","DOI":"10.1084\/jem.20101597","volume":"207","author":"M Byun","year":"2010","unstructured":"Byun, M. et al. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J. Exp. Med. 207, 2307\u20132312 (2010).","journal-title":"J. Exp. Med."},{"key":"BFni2457_CR20","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1016\/j.ajhg.2010.10.028","volume":"87","author":"A Bolze","year":"2010","unstructured":"Bolze, A. et al. Whole-exome-sequencing-based discovery of human FADD deficiency. Am. J. Hum. Genet. 87, 873\u2013881 (2010).","journal-title":"Am. J. Hum. Genet."},{"key":"BFni2457_CR21","doi-asserted-by":"crossref","first-page":"4877","DOI":"10.1038\/sj.emboj.7601360","volume":"25","author":"T Kirisako","year":"2006","unstructured":"Kirisako, T. et al. A ubiquitin ligase complex assembles linear polyubiquitin chains. EMBO J. 25, 4877\u20134887 (2006).","journal-title":"EMBO J."},{"key":"BFni2457_CR22","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1038\/nature09814","volume":"471","author":"F Ikeda","year":"2011","unstructured":"Ikeda, F. et al. SHARPIN forms a linear ubiquitin ligase complex regulating NF-\u03baB activity and apoptosis. Nature 471, 637\u2013641 (2011).","journal-title":"Nature"},{"key":"BFni2457_CR23","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1038\/nature09816","volume":"471","author":"B Gerlach","year":"2011","unstructured":"Gerlach, B. et al. Linear ubiquitination prevents inflammation and regulates immune signalling. Nature 471, 591\u2013596 (2011).","journal-title":"Nature"},{"key":"BFni2457_CR24","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1038\/nature09815","volume":"471","author":"F Tokunaga","year":"2011","unstructured":"Tokunaga, F. et al. SHARPIN is a component of the NF-\u03baB-activating linear ubiquitin chain assembly complex. Nature 471, 633\u2013636 (2011).","journal-title":"Nature"},{"key":"BFni2457_CR25","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1006\/bbrc.1998.8795","volume":"247","author":"K Tatematsu","year":"1998","unstructured":"Tatematsu, K. et al. Transcriptional activity of RBCK1 protein (RBCC protein interacting with PKC 1): requirement of RING-finger and B-Box motifs and regulation by protein kinases. Biochem. Biophys. Res. Commun. 247, 392\u2013396 (1998).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFni2457_CR26","doi-asserted-by":"crossref","first-page":"16776","DOI":"10.1074\/jbc.M701913200","volume":"282","author":"Y Tian","year":"2007","unstructured":"Tian, Y. et al. RBCK1 negatively regulates tumor necrosis factor- and interleukin-1-triggered NF-\u03baB activation by targeting TAB2\/3 for degradation. J. Biol. Chem. 282, 16776\u201316782 (2007).","journal-title":"J. Biol. Chem."},{"key":"BFni2457_CR27","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.molcel.2009.10.013","volume":"36","author":"TL Haas","year":"2009","unstructured":"Haas, T.L. et al. Recruitment of the linear ubiquitin chain assembly complex stabilizes the TNF-R1 signaling complex and is required for TNF-mediated gene induction. Mol. Cell 36, 831\u2013844 (2009).","journal-title":"Mol. Cell"},{"key":"BFni2457_CR28","doi-asserted-by":"crossref","first-page":"e23061","DOI":"10.1371\/journal.pone.0023061","volume":"6","author":"BS Hostager","year":"2011","unstructured":"Hostager, B.S., Kashiwada, M., Colgan, J.D. & Rothman, P.B. HOIL-1L interacting protein (HOIP) is essential for CD40 signaling. PLoS ONE 6, e23061 (2011).","journal-title":"PLoS ONE"},{"key":"BFni2457_CR29","doi-asserted-by":"crossref","first-page":"11536","DOI":"10.1073\/pnas.1107577108","volume":"108","author":"DE Zak","year":"2011","unstructured":"Zak, D.E. et al. Systems analysis identifies an essential role for SHANK-associated RH domain-interacting protein (SHARPIN) in macrophage Toll-like receptor 2 (TLR2) responses. Proc. Natl. Acad. Sci. USA 108, 11536\u201311541 (2011).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFni2457_CR30","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1097\/00130832-200312000-00006","volume":"3","author":"C Picard","year":"2003","unstructured":"Picard, C., Puel, A., Bustamante, J., Ku, C.L. & Casanova, J.L. Primary immunodeficiencies associated with pneumococcal disease. Curr. Opin. Allergy Clin. Immunol. 3, 451\u2013459 (2003).","journal-title":"Curr. Opin. Allergy Clin. Immunol."},{"key":"BFni2457_CR31","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1038\/sj.gene.6364403","volume":"8","author":"RE Seymour","year":"2007","unstructured":"Seymour, R.E. et al. Spontaneous mutations in the mouse Sharpin gene result in multiorgan inflammation, immune system dysregulation and dermatitis. Genes Immun. 8, 416\u2013421 (2007).","journal-title":"Genes Immun."},{"key":"BFni2457_CR32","doi-asserted-by":"crossref","first-page":"3890","DOI":"10.4049\/jimmunol.162.7.3890","volume":"162","author":"H HogenEsch","year":"1999","unstructured":"HogenEsch, H., Janke, S., Boggess, D. & Sundberg, J.P. Absence of Peyer's patches and abnormal lymphoid architecture in chronic proliferative dermatitis (cpdm\/cpdm) mice. J. Immunol. 162, 3890\u20133896 (1999).","journal-title":"J. Immunol."},{"key":"BFni2457_CR33","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1002\/1521-4141(200103)31:3<734::AID-IMMU734>3.0.CO;2-9","volume":"31","author":"H HogenEsch","year":"2001","unstructured":"HogenEsch, H. et al. Increased expression of type 2 cytokines in chronic proliferative dermatitis (cpdm) mutant mice and resolution of inflammation following treatment with IL-12. Eur. J. Immunol. 31, 734\u2013742 (2001).","journal-title":"Eur. J. Immunol."},{"key":"BFni2457_CR34","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1038\/jid.2010.259","volume":"131","author":"Y Liang","year":"2011","unstructured":"Liang, Y., Seymour, R.E. & Sundberg, J.P. Inhibition of NF-kappaB signaling retards eosinophilic dermatitis in SHARPIN-deficient mice. J. Invest. Dermatol. 131, 141\u2013149 (2011).","journal-title":"J. Invest. Dermatol."},{"key":"BFni2457_CR35","doi-asserted-by":"crossref","first-page":"177","DOI":"10.2174\/1566524024605815","volume":"2","author":"SW Moses","year":"2002","unstructured":"Moses, S.W. & Parvari, R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr. Mol. Med. 2, 177\u2013188 (2002).","journal-title":"Curr. Mol. Med."},{"key":"BFni2457_CR36","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1212\/01.WNL.0000138429.11433.0D","volume":"63","author":"C Bruno","year":"2004","unstructured":"Bruno, C. et al. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology 63, 1053\u20131058 (2004).","journal-title":"Neurology"},{"key":"BFni2457_CR37","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1007\/978-3-642-81553-9_84","volume":"7","author":"JF Pellissier","year":"1981","unstructured":"Pellissier, J.F., de Barsy, T., Bille, J., Serratrice, G. & Toga, M. Polysaccharide (amylopectin-like) storage myopathy histochemical ultrastructural and biochemical studies. Acta Neuropathol. Suppl. 7, 292\u2013296 (1981).","journal-title":"Acta Neuropathol. Suppl."},{"key":"BFni2457_CR38","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1007\/s003920050361","volume":"88","author":"R Ewert","year":"1999","unstructured":"Ewert, R. et al. [Glycogenosis type IV as a rare cause of cardiomyopathy\u2014report of a successful heart transplantation.] Z. Kardiol. 88, 850\u2013856 (1999).","journal-title":"Z. Kardiol."},{"key":"BFni2457_CR39","doi-asserted-by":"crossref","first-page":"e5907","DOI":"10.1371\/journal.pone.0005907","volume":"4","author":"S Vernia","year":"2009","unstructured":"Vernia, S., Rubio, T., Heredia, M., Rodriguez de Cordoba, S. & Sanz, P. Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin. PLoS ONE 4, e5907 (2009).","journal-title":"PLoS ONE"},{"key":"BFni2457_CR40","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1111\/j.1528-1167.2010.02692.x","volume":"51","author":"G Lesca","year":"2010","unstructured":"Lesca, G. et al. Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. Epilepsia 51, 1691\u20131698 (2010).","journal-title":"Epilepsia"},{"key":"BFni2457_CR41","doi-asserted-by":"crossref","first-page":"549","DOI":"10.2165\/11319250-000000000-00000","volume":"24","author":"TS Monaghan","year":"2010","unstructured":"Monaghan, T.S. & Delanty, N. Lafora disease: epidemiology, pathophysiology and management. CNS Drugs 24, 549\u2013561 (2010).","journal-title":"CNS Drugs"},{"key":"BFni2457_CR42","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754\u20131760 (2009).","journal-title":"Bioinformatics"},{"key":"BFni2457_CR43","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297\u20131303 (2010).","journal-title":"Genome Res."},{"key":"BFni2457_CR44","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li, H. et al. The Sequence Alignment\/Map format and SAMtools. Bioinformatics 25, 2078\u20132079 (2009).","journal-title":"Bioinformatics"},{"key":"BFni2457_CR45","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/35013114","volume":"405","author":"A Smahi","year":"2000","unstructured":"Smahi, A. et al. Genomic rearrangement in NEMO impairs NF-\u03baB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 405, 466\u2013472 (2000).","journal-title":"Nature"},{"key":"BFni2457_CR46","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.immuni.2008.05.012","volume":"29","author":"D Chaussabel","year":"2008","unstructured":"Chaussabel, D. et al. A modular analysis framework for blood genomics studies: application to systemic lupus erythematosus. Immunity 29, 150\u2013164 (2008).","journal-title":"Immunity"}],"container-title":["Nature Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/ni.2457.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/ni.2457","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/ni.2457.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,30]],"date-time":"2024-04-30T17:04:55Z","timestamp":1714496695000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ni.2457"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10,28]]},"references-count":46,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["BFni2457"],"URL":"https:\/\/doi.org\/10.1038\/ni.2457","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.717967626.793467401","asserted-by":"object"}]},"ISSN":["1529-2908","1529-2916"],"issn-type":[{"value":"1529-2908","type":"print"},{"value":"1529-2916","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,10,28]]},"assertion":[{"value":"6 August 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 September 2012","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 October 2012","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing financial interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}