{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T13:08:30Z","timestamp":1792242510894,"version":"4.4.0"},"reference-count":115,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2024,4,15]],"date-time":"2024-04-15T00:00:00Z","timestamp":1713139200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,4,15]],"date-time":"2024-04-15T00:00:00Z","timestamp":1713139200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-21-CE17-0064 SOCSIMMUNITY"],"award-info":[{"award-number":["ANR-21-CE17-0064 SOCSIMMUNITY"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-21-RHUS-08 COVIFERON"],"award-info":[{"award-number":["ANR-21-RHUS-08 COVIFERON"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-21-CE17-0064 SOCSIMMUNITY"],"award-info":[{"award-number":["ANR-21-CE17-0064 SOCSIMMUNITY"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018696","name":"HORIZON EUROPE Health","doi-asserted-by":"publisher","award":["01057100 [UNDINE]"],"award-info":[{"award-number":["01057100 [UNDINE]"]}],"id":[{"id":"10.13039\/100018696","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018696","name":"HORIZON EUROPE Health","doi-asserted-by":"publisher","award":["01057100 [UNDINE]"],"award-info":[{"award-number":["01057100 [UNDINE]"]}],"id":[{"id":"10.13039\/100018696","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2024,5]]},"DOI":"10.1007\/s10875-024-01696-8","type":"journal-article","created":{"date-parts":[[2024,4,15]],"date-time":"2024-04-15T06:02:07Z","timestamp":1713160927000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Mendelian Causes of Autoimmunity: the Lupus Phenotype"],"prefix":"10.1007","volume":"44","author":[{"given":"Maud","family":"Tusseau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samira","family":"Khaldi-Plassart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jade","family":"Cognard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastien","family":"Viel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliane","family":"Khoryati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Benezech","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Laure","family":"Mathieu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9deric","family":"Rieux-Laucat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Bader-Meunier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Belot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,4,15]]},"reference":[{"issue":"9","key":"1696_CR1","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1136\/annrheumdis-2018-214819","volume":"78","author":"M Aringer","year":"2019","unstructured":"Aringer M et al. 2019 European League Against Rheumatism\/American College of Rheumatology classification criteria for systemic lupus erythematosus. Ann Rheum Dis. 2019;78(9):1151\u20139. https:\/\/doi.org\/10.1136\/annrheumdis-2018-214819.","journal-title":"Ann Rheum Dis"},{"issue":"12","key":"1696_CR2","doi-asserted-by":"publisher","first-page":"716","DOI":"10.1038\/nrrheum.2016.186","volume":"12","author":"GC Tsokos","year":"2016","unstructured":"Tsokos GC, Lo MS, Reis PC, Sullivan KE. New insights into the immunopathogenesis of systemic lupus erythematosus. Nat Rev Rheumatol. 2016;12(12):716\u201330. https:\/\/doi.org\/10.1038\/nrrheum.2016.186.","journal-title":"Nat Rev Rheumatol"},{"issue":"9","key":"1696_CR3","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1038\/s41577-019-0167-y","volume":"19","author":"G Lemke","year":"2019","unstructured":"Lemke G. How macrophages deal with death. Nat Rev Immunol. 2019;19(9):539\u201349. https:\/\/doi.org\/10.1038\/s41577-019-0167-y.","journal-title":"Nat Rev Immunol"},{"issue":"4","key":"1696_CR4","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1038\/s41577-019-0240-6","volume":"20","author":"AC Doran","year":"2020","unstructured":"Doran AC, Yurdagul A, Tabas I. Efferocytosis in health and disease. Nat Rev Immunol. 2020;20(4):254\u201367. https:\/\/doi.org\/10.1038\/s41577-019-0240-6.","journal-title":"Nat Rev Immunol"},{"issue":"8","key":"1696_CR5","doi-asserted-by":"publisher","first-page":"Art. no. 8","DOI":"10.1038\/s41573-022-00470-y","volume":"21","author":"P Mehrotra","year":"2022","unstructured":"Mehrotra P, Ravichandran KS. Drugging the efferocytosis process: concepts and opportunities. Nat Rev Drug Discov. 2022;21(8):601-620. https:\/\/doi.org\/10.1038\/s41573-022-00470-y.","journal-title":"Nat Rev Drug Discov"},{"issue":"3","key":"1696_CR6","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1016\/j.berh.2017.09.007","volume":"31","author":"T Rose","year":"2017","unstructured":"Rose T, D\u00f6rner T. Drivers of the immunopathogenesis in systemic lupus erythematosus. Best Pract Res Clin Rheumatol. 2017;31(3):321\u201333. https:\/\/doi.org\/10.1016\/j.berh.2017.09.007.","journal-title":"Best Pract Res Clin Rheumatol"},{"issue":"9","key":"1696_CR7","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1038\/nrrheum.2010.121","volume":"6","author":"S Kamphuis","year":"2010","unstructured":"Kamphuis S, Silverman ED. Prevalence and burden of pediatric-onset systemic lupus erythematosus. Nat Rev Rheumatol. 2010;6(9):538\u201346. https:\/\/doi.org\/10.1038\/nrrheum.2010.121.","journal-title":"Nat Rev Rheumatol"},{"issue":"11","key":"1696_CR8","doi-asserted-by":"publisher","first-page":"1082","DOI":"10.1016\/j.autrev.2014.08.034","volume":"13","author":"L Arnaud","year":"2014","unstructured":"Arnaud L, Fagot J-P, Mathian A, Paita M, Fagot-Campagna A, Amoura Z. Prevalence and incidence of systemic lupus erythematosus in France: a 2010 nation-wide population-based study. Autoimmun Rev. 2014;13(11):1082\u20139. https:\/\/doi.org\/10.1016\/j.autrev.2014.08.034.","journal-title":"Autoimmun Rev"},{"issue":"5","key":"1696_CR9","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1016\/j.jpeds.2004.12.045","volume":"146","author":"B Bader-Meunier","year":"2005","unstructured":"Bader-Meunier B, et al. Initial presentation of childhood-onset systemic lupus erythematosus: a French multicenter study. J Pediatr. 2005;146(5):648\u201353. https:\/\/doi.org\/10.1016\/j.jpeds.2004.12.045.","journal-title":"J Pediatr"},{"key":"1696_CR10","doi-asserted-by":"publisher","first-page":"108907","DOI":"10.1016\/j.clim.2021.108907","volume":"234","author":"T Alexander","year":"2022","unstructured":"Alexander T, Hedrich CM. Systemic lupus erythematosus \u2013 are children miniature adults? Clin Immunol. 2022;234:108907. https:\/\/doi.org\/10.1016\/j.clim.2021.108907.","journal-title":"Clin Immunol"},{"issue":"4","key":"1696_CR11","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1586\/eci.09.29","volume":"5","author":"ED Papadimitraki","year":"2009","unstructured":"Papadimitraki ED, Isenberg DA. Childhood- and adult-onset lupus: an update of similarities and differences. Expert Rev Clin Immunol. 2009;5(4):391\u2013403. https:\/\/doi.org\/10.1586\/eci.09.29.","journal-title":"Expert Rev Clin Immunol"},{"issue":"3","key":"1696_CR12","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1038\/nrg.2015.33","volume":"17","author":"M Gutierrez-Arcelus","year":"2016","unstructured":"Gutierrez-Arcelus M, Rich SS, Raychaudhuri S. Autoimmune diseases \u2014 connecting risk alleles with molecular traits of the immune system. Nat Rev Genet. 2016;17(3):160. https:\/\/doi.org\/10.1038\/nrg.2015.33.","journal-title":"Nat Rev Genet"},{"issue":"3","key":"1696_CR13","first-page":"176","volume":"66","author":"LA Criswell","year":"2008","unstructured":"Criswell LA. The genetic contribution to systemic lupus erythematosus. Bull NYU Hosp Jt Dis. 2008;66(3):176\u201383.","journal-title":"Bull NYU Hosp Jt Dis"},{"issue":"3","key":"1696_CR14","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1002\/art.1780350310","volume":"35","author":"D Deapen","year":"1992","unstructured":"Deapen D, et al. A revised estimate of twin concordance in systemic lupus erythematosus. Arthritis Rheum. 1992;35(3):311\u20138. https:\/\/doi.org\/10.1002\/art.1780350310.","journal-title":"Arthritis Rheum"},{"issue":"4","key":"1696_CR15","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1016\/j.semarthrit.2017.06.007","volume":"47","author":"CJ Ulff-M\u00f8ller","year":"2018","unstructured":"Ulff-M\u00f8ller CJ, Svendsen AJ, Viemose LN, Jacobsen S. Concordance of autoimmune disease in a nationwide Danish systemic lupus erythematosus twin cohort. Semin Arthritis Rheum. 2018;47(4):538\u201344. https:\/\/doi.org\/10.1016\/j.semarthrit.2017.06.007.","journal-title":"Semin Arthritis Rheum"},{"issue":"12","key":"1696_CR16","doi-asserted-by":"publisher","first-page":"683","DOI":"10.1038\/nrrheum.2010.176","volume":"6","author":"Y Deng","year":"2010","unstructured":"Deng Y, Tsao BP. Genetic susceptibility to systemic lupus erythematosus in the genomic era. Nat Rev Rheumatol. 2010;6(12):683\u201392. https:\/\/doi.org\/10.1038\/nrrheum.2010.176.","journal-title":"Nat Rev Rheumatol"},{"key":"1696_CR17","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.jaut.2013.01.008","volume":"41","author":"Y Cui","year":"2013","unstructured":"Cui Y, Sheng Y, Zhang X. Genetic susceptibility to SLE: recent progress from GWAS. J Autoimmun. 2013;41:25\u201333. https:\/\/doi.org\/10.1016\/j.jaut.2013.01.008.","journal-title":"J Autoimmun"},{"issue":"2","key":"1696_CR18","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1038\/ng.79","volume":"40","author":"SV Kozyrev","year":"2008","unstructured":"Kozyrev SV, et al. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet. 2008;40(2):211\u20136. https:\/\/doi.org\/10.1038\/ng.79.","journal-title":"Nat Genet"},{"key":"1696_CR19","doi-asserted-by":"publisher","unstructured":"Jiang SH, et al. Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus. Nat Commun. 2019;10. https:\/\/doi.org\/10.1038\/s41467-019-10242-9.","DOI":"10.1038\/s41467-019-10242-9"},{"issue":"7","key":"1696_CR20","doi-asserted-by":"publisher","first-page":"e0199979","DOI":"10.1371\/journal.pone.0199979","volume":"13","author":"H Alkaissi","year":"2018","unstructured":"Alkaissi H, Havarinasab S, Nielsen JB, S\u00f6derkvist P, Hultman P. Bank1 and NF-kappaB as key regulators in anti-nucleolar antibody development. PLoS ONE. 2018;13(7):e0199979. https:\/\/doi.org\/10.1371\/journal.pone.0199979.","journal-title":"PLoS ONE"},{"issue":"1","key":"1696_CR21","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1186\/1546-0096-10-21","volume":"10","author":"A Belot","year":"2012","unstructured":"Belot A, Cimaz R. Monogenic forms of systemic lupus erythematosus: new insights into SLE pathogenesis. Pediatr Rheumatol Online J. 2012;10(1):21. https:\/\/doi.org\/10.1186\/1546-0096-10-21.","journal-title":"Pediatr Rheumatol Online J"},{"issue":"1","key":"1696_CR22","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.nephro.2011.05.003","volume":"8","author":"A Belot","year":"2012","unstructured":"Belot A, Cochat P. Monogenic systemic lupus erythematosus. Nephrol Ther. 2012;8(1):1\u20134. https:\/\/doi.org\/10.1016\/j.nephro.2011.05.003.","journal-title":"Nephrol Ther"},{"issue":"2","key":"1696_CR23","doi-asserted-by":"publisher","first-page":"e99","DOI":"10.1016\/S2665-9913(19)30142-0","volume":"2","author":"A Belot","year":"2020","unstructured":"Belot A, et al. Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts. Lancet Rheumatol. 2020;2(2):e99\u2013109. https:\/\/doi.org\/10.1016\/S2665-9913(19)30142-0.","journal-title":"Lancet Rheumatol"},{"issue":"3","key":"1696_CR24","first-page":"837","volume":"108","author":"V Agnello","year":"1972","unstructured":"Agnello V, De Bracco MM, Kunkel HG. Hereditary C2 deficiency with some manifestations of systemic lupus erythematosus. J Immunol Baltim Md 1950. 1972;108(3):837\u201340.","journal-title":"J Immunol Baltim Md 1950"},{"issue":"13","key":"1696_CR25","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1056\/nejm197203302861304","volume":"286","author":"B Moncada","year":"1972","unstructured":"Moncada B, Day NKB, Good RA, Windhorst DB. Lupus-erythematosus-like syndrome with a familial defect of complement. N Engl J Med. 1972;286(13):689\u201393. https:\/\/doi.org\/10.1056\/nejm197203302861304.","journal-title":"N Engl J Med"},{"issue":"8","key":"1696_CR26","doi-asserted-by":"publisher","first-page":"4738","DOI":"10.4049\/jimmunol.1001731","volume":"185","author":"DM Santer","year":"2010","unstructured":"Santer DM, et al. C1q deficiency leads to the defective suppression of IFN-alpha in response to nucleoprotein containing immune complexes. J Immunol Baltim Md 1950. 2010;185(8):4738\u201349. https:\/\/doi.org\/10.4049\/jimmunol.1001731.","journal-title":"J Immunol Baltim Md 1950"},{"issue":"12","key":"1696_CR27","doi-asserted-by":"publisher","first-page":"1671","DOI":"10.3899\/jrheum.171358","volume":"45","author":"ED Batu","year":"2018","unstructured":"Batu ED, et al. Whole exome sequencing in early-onset systemic lupus erythematosus. J Rheumatol. 2018;45(12):1671\u20139. https:\/\/doi.org\/10.3899\/jrheum.171358.","journal-title":"J Rheumatol"},{"key":"1696_CR28","doi-asserted-by":"publisher","unstructured":"Abel G, Agnello V. Complement deficiency and systemic lupus erythematosus. Elsevier; 2004. pp. 173\u2013201. https:\/\/doi.org\/10.1016\/b9-78-012433-9\/01950-0090.","DOI":"10.1016\/b9-78-012433-9\/01950-0090"},{"key":"1696_CR29","doi-asserted-by":"publisher","first-page":"36","DOI":"10.3389\/fimmu.2016.00036","volume":"7","author":"KE Lintner","year":"2016","unstructured":"Lintner KE, et al. Early components of the complement classical activation pathway in human systemic autoimmune diseases. Front Immunol. 2016;7:36. https:\/\/doi.org\/10.3389\/fimmu.2016.00036.","journal-title":"Front Immunol"},{"issue":"6","key":"1696_CR30","doi-asserted-by":"publisher","first-page":"1310","DOI":"10.1007\/s10875-022-01287-5","volume":"42","author":"M Tusseau","year":"2022","unstructured":"Tusseau M, et al. DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling. J Clin Immunol. 2022;42(6):1310\u201320. https:\/\/doi.org\/10.1007\/s10875-022-01287-5.","journal-title":"J Clin Immunol"},{"issue":"1","key":"1696_CR31","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1016\/j.cell.2016.05.034","volume":"166","author":"V Sisirak","year":"2016","unstructured":"Sisirak V, et al. Digestion of chromatin in apoptotic cell microparticles prevents autoimmunity. Cell. 2016;166(1):88\u2013101. https:\/\/doi.org\/10.1016\/j.cell.2016.05.034.","journal-title":"Cell"},{"issue":"12","key":"1696_CR32","doi-asserted-by":"publisher","first-page":"1186","DOI":"10.1038\/ng.975","volume":"43","author":"SM Al-Mayouf","year":"2011","unstructured":"Al-Mayouf SM, et al. Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet. 2011;43(12):1186\u20138. https:\/\/doi.org\/10.1038\/ng.975.","journal-title":"Nat Genet"},{"key":"1696_CR33","doi-asserted-by":"publisher","unstructured":"Tsokos GC. Systemic lupus erythematosus. N Engl J Med. 2011;365:2110\u201321. https:\/\/doi.org\/10.1056\/NEJMra1100359.","DOI":"10.1056\/NEJMra1100359"},{"issue":"1","key":"1696_CR34","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1002\/ana.410150109","volume":"15","author":"J Aicardi","year":"1984","unstructured":"Aicardi J, Gouti\u00e8res F. A Progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol. 1984;15(1):49\u201354. https:\/\/doi.org\/10.1002\/ana.410150109.","journal-title":"Ann Neurol"},{"issue":"2","key":"1696_CR35","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1016\/0022-510X(88)90125-6","volume":"84","author":"P Lebon","year":"1988","unstructured":"Lebon P, Badoual J, Ponsot G, Gouti\u00e8res F, H\u00e9meury-Cukier F, Aicardi J. Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy. J Neurol Sci. 1988;84(2):201\u20138. https:\/\/doi.org\/10.1016\/0022-510X(88)90125-6.","journal-title":"J Neurol Sci"},{"issue":"R2","key":"1696_CR36","doi-asserted-by":"publisher","first-page":"R130","DOI":"10.1093\/hmg\/ddp293","volume":"18","author":"YJ Crow","year":"2009","unstructured":"Crow YJ, Rehwinkel J. Aicardi-Gouti\u00e8res syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum Mol Genet. 2009;18(R2):R130\u20136. https:\/\/doi.org\/10.1093\/hmg\/ddp293.","journal-title":"Hum Mol Genet"},{"issue":"8","key":"1696_CR37","doi-asserted-by":"publisher","first-page":"Art. no. 8","DOI":"10.1038\/ng1845","volume":"38","author":"YJ Crow","year":"2006","unstructured":"Crow YJ, et al. Mutations in the gene encoding the 3\u2032-5\u2032 DNA exonuclease TREX1 cause Aicardi-Gouti\u00e8res syndrome at the AGS1 locus. Nat Genet. 2006;38(8):Art. no. 8. https:\/\/doi.org\/10.1038\/ng1845.","journal-title":"Nat Genet"},{"issue":"1","key":"1696_CR38","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1111\/j.1749-6632.2011.06220.x","volume":"1238","author":"YJ Crow","year":"2011","unstructured":"Crow YJ. Type I interferonopathies: a novel set of inborn errors of immunity. Ann N Y Acad Sci. 2011;1238(1):91\u20138. https:\/\/doi.org\/10.1111\/j.1749-6632.2011.06220.x.","journal-title":"Ann N Y Acad Sci"},{"issue":"8","key":"1696_CR39","doi-asserted-by":"publisher","first-page":"Art. no. 8","DOI":"10.1038\/s41577-021-00633-9","volume":"22","author":"YJ Crow","year":"2022","unstructured":"Crow YJ, Stetson DB. The type I interferonopathies: 10 years on. Nat Rev Immunol. 2022;22(8):471-483. https:\/\/doi.org\/10.1038\/s41577-021-00633-9.","journal-title":"Nat Rev Immunol"},{"issue":"3","key":"1696_CR40","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1007\/s10875-015-0147-3","volume":"35","author":"GI Rice","year":"2015","unstructured":"Rice GI, Rodero MP, Crow YJ. Human disease phenotypes associated with mutations in TREX1. J Clin Immunol. 2015;35(3):235\u201343. https:\/\/doi.org\/10.1007\/s10875-015-0147-3.","journal-title":"J Clin Immunol"},{"issue":"9","key":"1696_CR41","doi-asserted-by":"publisher","first-page":"1068","DOI":"10.1038\/ng2082","volume":"39","author":"A Richards","year":"2007","unstructured":"Richards A, et al. C-terminal truncations in human 3\u2019-5\u2019 DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet. 2007;39(9):1068\u201370. https:\/\/doi.org\/10.1038\/ng2082.","journal-title":"Nat Genet"},{"issue":"6","key":"1696_CR42","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1056\/NEJMoa1312625","volume":"371","author":"Y Liu","year":"2014","unstructured":"Liu Y, et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014;371(6):507\u201318. https:\/\/doi.org\/10.1056\/NEJMoa1312625.","journal-title":"N Engl J Med"},{"issue":"2","key":"1696_CR43","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1136\/annrheumdis-2016-209841","volume":"76","author":"N K\u00f6nig","year":"2017","unstructured":"K\u00f6nig N, et al. Familial chilblain lupus due to a gain-of-function mutation in STING. Ann Rheum Dis. 2017;76(2):468\u201372. https:\/\/doi.org\/10.1136\/annrheumdis-2016-209841.","journal-title":"Ann Rheum Dis"},{"issue":"12","key":"1696_CR44","doi-asserted-by":"publisher","first-page":"5516","DOI":"10.1172\/JCI79100","volume":"124","author":"N Jeremiah","year":"2014","unstructured":"Jeremiah N, et al. Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J Clin Invest. 2014;124(12):5516\u201320. https:\/\/doi.org\/10.1172\/JCI79100.","journal-title":"J Clin Invest"},{"issue":"11","key":"1696_CR45","doi-asserted-by":"publisher","first-page":"e20200600","DOI":"10.1084\/jem.20200600","volume":"217","author":"A Lepelley","year":"2020","unstructured":"Lepelley A, et al. Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling. J Exp Med. 2020;217(11):e20200600. https:\/\/doi.org\/10.1084\/jem.20200600.","journal-title":"J Exp Med"},{"issue":"6","key":"1696_CR46","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1038\/ng.3279","volume":"47","author":"LB Watkin","year":"2015","unstructured":"Watkin LB, et al. COPA mutations impair ER-Golgi transport causing hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015;47(6):654\u201360. https:\/\/doi.org\/10.1038\/ng.3279.","journal-title":"Nat Genet"},{"key":"1696_CR47","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1007\/s10875-016-0252-y","volume":"36","author":"TA Briggs","year":"2016","unstructured":"Briggs TA, et al. Spondyloenchondrodysplasia due to mutations in ACP5: a comprehensive survey. J Clin Immunol. 2016;36:220\u201334. https:\/\/doi.org\/10.1007\/s10875-016-0252-y.","journal-title":"J Clin Immunol"},{"issue":"1","key":"1696_CR48","doi-asserted-by":"publisher","first-page":"2176","DOI":"10.1038\/s41467-017-01932-3","volume":"8","author":"MP Rodero","year":"2017","unstructured":"Rodero MP, et al. Type I interferon-mediated autoinflammation due to DNase II deficiency. Nat Commun. 2017;8(1):2176. https:\/\/doi.org\/10.1038\/s41467-017-01932-3.","journal-title":"Nat Commun"},{"issue":"7814","key":"1696_CR49","doi-asserted-by":"publisher","first-page":"Art. no. 7814","DOI":"10.1038\/s41586-020-2265-1","volume":"583","author":"JED Thaventhiran","year":"2020","unstructured":"Thaventhiran JED, et al. Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature. 2020;583(7814):Art. no. 7814. https:\/\/doi.org\/10.1038\/s41586-020-2265-1.","journal-title":"Nature"},{"key":"1696_CR50","doi-asserted-by":"publisher","first-page":"5341","DOI":"10.1038\/s41467-020-18925-4","volume":"11","author":"J Hadjadj","year":"2020","unstructured":"Hadjadj J, et al. Early-onset autoimmunity associated with SOCS1 haploinsufficiency. Nat Commun. 2020;11:5341. https:\/\/doi.org\/10.1038\/s41467-020-18925-4.","journal-title":"Nat Commun"},{"issue":"1","key":"1696_CR51","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1007\/s10875-023-01635-z","volume":"44","author":"C Gruber","year":"2023","unstructured":"Gruber C, et al. IL4R\u03b1 and IL17A blockade rescue autoinflammation in SOCS1 haploinsufficiency. J Clin Immunol. 2023;44(1):36. https:\/\/doi.org\/10.1007\/s10875-023-01635-z.","journal-title":"J Clin Immunol"},{"key":"1696_CR52","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-023-01495-7","author":"MM Rodari","year":"2023","unstructured":"Rodari MM, et al. Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options. J Clin Immunol. 2023. https:\/\/doi.org\/10.1007\/s10875-023-01495-7.","journal-title":"J Clin Immunol"},{"issue":"5","key":"1696_CR53","doi-asserted-by":"publisher","first-page":"1968","DOI":"10.1053\/j.gastro.2020.07.040","volume":"159","author":"M Parlato","year":"2020","unstructured":"Parlato M, et al. Loss-of-function mutation in PTPN2 causes aberrant activation of JAK signaling via STAT and very early onset intestinal inflammation. Gastroenterology. 2020;159(5):1968-1971.e4. https:\/\/doi.org\/10.1053\/j.gastro.2020.07.040.","journal-title":"Gastroenterology"},{"issue":"8","key":"1696_CR54","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.1007\/s10875-020-00847-x","volume":"40","author":"S Okada","year":"2020","unstructured":"Okada S, et al. Human STAT1 gain-of-function heterozygous mutations: chronic mucocutaneous candidiasis and type I interferonopathy. J Clin Immunol. 2020;40(8):1065\u201381. https:\/\/doi.org\/10.1007\/s10875-020-00847-x.","journal-title":"J Clin Immunol"},{"key":"1696_CR55","unstructured":"Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype | Blood | American Society of Hematology.\u00a0 \u00a0https:\/\/ashpublications-org.proxy.insermbiblio.inist.fr\/blood\/article\/127\/25\/3154\/35201\/Heterozygous-STAT1-gain-of-function-mutations.\u00a0Accessed 17 Nov 2023."},{"issue":"7909","key":"1696_CR56","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1038\/s41586-022-04642-z","volume":"605","author":"GJ Brown","year":"2022","unstructured":"Brown GJ, et al. TLR7 gain-of-function genetic variation causes human lupus. Nature. 2022;605(7909):349\u201356. https:\/\/doi.org\/10.1038\/s41586-022-04642-z.","journal-title":"Nature"},{"issue":"6","key":"1696_CR57","doi-asserted-by":"publisher","first-page":"1058","DOI":"10.1002\/art.42416","volume":"75","author":"C Xie","year":"2023","unstructured":"Xie C, et al. De novo PACSIN1 gene variant found in childhood lupus and a role for PACSIN1\/TRAF4 complex in toll-like receptor 7 activation. Arthritis Rheumatol Hoboken NJ. 2023;75(6):1058\u201371. https:\/\/doi.org\/10.1002\/art.42416.","journal-title":"Arthritis Rheumatol Hoboken NJ"},{"key":"1696_CR58","doi-asserted-by":"publisher","unstructured":"Wolf C, et al. UNC93B1 variants underlie TLR7-dependent autoimmunity. Sci Immunol. 2024;eadi9769. https:\/\/doi.org\/10.1126\/sciimmunol.adi9769.","DOI":"10.1126\/sciimmunol.adi9769"},{"issue":"5215","key":"1696_CR59","doi-asserted-by":"publisher","first-page":"1347","DOI":"10.1126\/science.7539157","volume":"268","author":"F Rieux-Laucat","year":"1995","unstructured":"Rieux-Laucat F, et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science. 1995;268(5215):1347\u20139. https:\/\/doi.org\/10.1126\/science.7539157.","journal-title":"Science"},{"issue":"5","key":"1696_CR60","doi-asserted-by":"publisher","first-page":"1107","DOI":"10.1172\/JCI118892","volume":"98","author":"J Wu","year":"1996","unstructured":"Wu J, Wilson J, He J, Xiang L, Schur PH, Mountz JD. Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. J Clin Invest. 1996;98(5):1107\u201313. https:\/\/doi.org\/10.1172\/JCI118892.","journal-title":"J Clin Invest"},{"issue":"9","key":"1696_CR61","doi-asserted-by":"publisher","first-page":"1833","DOI":"10.1002\/1529-0131(199909)42:9<1833::AID-ANR7>3.0.CO;2-Q","volume":"42","author":"AK Vaishnaw","year":"1999","unstructured":"Vaishnaw AK, et al. The spectrum of apoptotic defects and clinical manifestations, including systemic lupus erythematosus, in humans with CD95 (Fas\/APO-1) mutations. Arthritis Rheum. 1999;42(9):1833\u201342. https:\/\/doi.org\/10.1002\/1529-0131(199909)42:9%3c1833::AID-ANR7%3e3.0.CO;2-Q.","journal-title":"Arthritis Rheum"},{"key":"1696_CR62","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.coi.2017.10.001","volume":"49","author":"F Rieux-Laucat","year":"2017","unstructured":"Rieux-Laucat F. What\u2019s up in the ALPS. Curr Opin Immunol. 2017;49:79\u201386. https:\/\/doi.org\/10.1016\/j.coi.2017.10.001.","journal-title":"Curr Opin Immunol"},{"issue":"2","key":"1696_CR63","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1093\/cei\/uxac109","volume":"212","author":"HS Kuehn","year":"2023","unstructured":"Kuehn HS, Boast B, Rosenzweig SD. Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency. Clin Exp Immunol. 2023;212(2):129\u201336. https:\/\/doi.org\/10.1093\/cei\/uxac109.","journal-title":"Clin Exp Immunol"},{"issue":"10\u201312","key":"1696_CR64","doi-asserted-by":"publisher","first-page":"1211","DOI":"10.1007\/s00011-021-01479-6","volume":"70","author":"G Su","year":"2021","unstructured":"Su G, et al. Analysis of five cases of monogenic lupus related to primary immunodeficiency diseases. Inflamm Res Off J Eur Histamine Res Soc Al. 2021;70(10\u201312):1211\u20136. https:\/\/doi.org\/10.1007\/s00011-021-01479-6.","journal-title":"Inflamm Res Off J Eur Histamine Res Soc Al"},{"issue":"1","key":"1696_CR65","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1016\/j.jaci.2014.07.063","volume":"135","author":"JE Walter","year":"2015","unstructured":"Walter JE, et al. Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis. J Allergy Clin Immunol. 2015;135(1):272\u20133. https:\/\/doi.org\/10.1016\/j.jaci.2014.07.063.","journal-title":"J Allergy Clin Immunol"},{"issue":"8","key":"1696_CR66","doi-asserted-by":"publisher","first-page":"2161","DOI":"10.1002\/art.38008","volume":"65","author":"A Belot","year":"2013","unstructured":"Belot A, et al. Protein kinase c\u03b4 deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. Arthritis Rheum. 2013;65(8):2161\u201371. https:\/\/doi.org\/10.1002\/art.38008.","journal-title":"Arthritis Rheum"},{"key":"1696_CR67","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-023-01579-4","author":"L Jefferson","year":"2023","unstructured":"Jefferson L, et al. Phenotypic variability in PRKCD: a review of the literature. J Clin Immunol. 2023. https:\/\/doi.org\/10.1007\/s10875-023-01579-4.","journal-title":"J Clin Immunol"},{"issue":"9","key":"1696_CR68","doi-asserted-by":"publisher","first-page":"e20210501","DOI":"10.1084\/jem.20210501","volume":"218","author":"A-L Neehus","year":"2021","unstructured":"Neehus A-L, et al. Impaired respiratory burst contributes to infections in PKC\u03b4-deficient patients. J Exp Med. 2021;218(9):e20210501. https:\/\/doi.org\/10.1084\/jem.20210501.","journal-title":"J Exp Med"},{"issue":"2","key":"1696_CR69","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1016\/j.semarthrit.2013.04.009","volume":"43","author":"B Bader-Meunier","year":"2013","unstructured":"Bader-Meunier B, et al. Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature. Semin Arthritis Rheum. 2013;43(2):217\u20139. https:\/\/doi.org\/10.1016\/j.semarthrit.2013.04.009.","journal-title":"Semin Arthritis Rheum"},{"issue":"5","key":"1696_CR70","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1002\/ajmg.a.35290","volume":"158A","author":"CRDC Quaio","year":"2012","unstructured":"Quaio CRDC, et al. Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. Am J Med Genet A. 2012;158A(5):1077\u201382. https:\/\/doi.org\/10.1002\/ajmg.a.35290.","journal-title":"Am J Med Genet A"},{"issue":"21","key":"1696_CR71","doi-asserted-by":"publisher","first-page":"8953","DOI":"10.1073\/pnas.0702975104","volume":"104","author":"JB Oliveira","year":"2007","unstructured":"Oliveira JB, et al. NRAS mutation causes a human autoimmune lymphoproliferative syndrome. Proc Natl Acad Sci. 2007;104(21):8953\u20138. https:\/\/doi.org\/10.1073\/pnas.0702975104.","journal-title":"Proc Natl Acad Sci"},{"issue":"10","key":"1696_CR72","doi-asserted-by":"publisher","first-page":"2883","DOI":"10.1182\/blood-2010-07-295501","volume":"117","author":"JE Niemela","year":"2011","unstructured":"Niemela JE, et al. Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. Blood. 2011;117(10):2883\u20136. https:\/\/doi.org\/10.1182\/blood-2010-07-295501.","journal-title":"Blood"},{"key":"1696_CR73","doi-asserted-by":"publisher","unstructured":"Eni-Aganga I, Lanaghan ZM, Balasubramaniam M, Dash C, Pandhare J. PROLIDASE: a review from discovery to its role in health and disease. Front Mol Biosci. 2021;8:723003. https:\/\/doi.org\/10.3389\/fmolb.2021.723003.","DOI":"10.3389\/fmolb.2021.723003"},{"issue":"6","key":"1696_CR74","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1007\/s00431-009-1102-1","volume":"169","author":"A Klar","year":"2010","unstructured":"Klar A, et al. Prolidase deficiency: it looks like systemic lupus erythematosus but it is not. Eur J Pediatr. 2010;169(6):727\u201332. https:\/\/doi.org\/10.1007\/s00431-009-1102-1.","journal-title":"Eur J Pediatr"},{"issue":"5","key":"1696_CR75","doi-asserted-by":"publisher","first-page":"547","DOI":"10.4049\/jimmunol.2200212","volume":"210","author":"R Hodgson","year":"2023","unstructured":"Hodgson R, et al. Prolidase deficiency causes spontaneous T cell activation and lupus-like autoimmunity. J Immunol Author Choice. 2023;210(5):547. https:\/\/doi.org\/10.4049\/jimmunol.2200212.","journal-title":"J Immunol Author Choice"},{"issue":"9","key":"1696_CR76","doi-asserted-by":"publisher","first-page":"1604","DOI":"10.1038\/s41436-021-01200-2","volume":"23","author":"F Rossignol","year":"2021","unstructured":"Rossignol F, et al. Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases. Genet Med Off J Am Coll Med Genet. 2021;23(9):1604. https:\/\/doi.org\/10.1038\/s41436-021-01200-2.","journal-title":"Genet Med Off J Am Coll Med Genet"},{"issue":"1","key":"1696_CR77","doi-asserted-by":"publisher","first-page":"e20211004","DOI":"10.1084\/jem.20211004","volume":"219","author":"Y He","year":"2022","unstructured":"He Y, et al. P2RY8 variants in lupus patients uncover a role for the receptor in immunological tolerance. J Exp Med. 2022;219(1):e20211004. https:\/\/doi.org\/10.1084\/jem.20211004.","journal-title":"J Exp Med"},{"issue":"1","key":"1696_CR78","doi-asserted-by":"publisher","first-page":"e20211972","DOI":"10.1084\/jem.20211972","volume":"219","author":"M Tusseau","year":"2022","unstructured":"Tusseau M, Belot A. \u2018P2RY8-son\u2019 break of tolerance promotes SLE. J Exp Med. 2022;219(1):e20211972. https:\/\/doi.org\/10.1084\/jem.20211972.","journal-title":"J Exp Med"},{"key":"1696_CR79","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2023.12.007","author":"I Elhani","year":"2023","unstructured":"Elhani I, Riller Q, Boursier G, Hentgen V, Rieux-Laucat F, Georgin-Lavialle S. A20 haploinsufficiency: a systematic review of 177 cases. J Invest Dermatol. 2023. https:\/\/doi.org\/10.1016\/j.jid.2023.12.007.","journal-title":"J Invest Dermatol"},{"issue":"12","key":"1696_CR80","doi-asserted-by":"publisher","first-page":"1712","DOI":"10.1136\/ard-2022-222795","volume":"81","author":"L Xu","year":"2022","unstructured":"Xu L, et al. Loss-of-function variants in SAT1 cause X-linked childhood-onset systemic lupus erythematosus. Ann Rheum Dis. 2022;81(12):1712\u201321. https:\/\/doi.org\/10.1136\/ard-2022-222795.","journal-title":"Ann Rheum Dis"},{"key":"1696_CR81","doi-asserted-by":"publisher","unstructured":"Boussard C, et al. DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity. Blood. 2023.\u00a0\u00a0https:\/\/doi.org\/10.1182\/blood.2022018486.","DOI":"10.1182\/blood.2022018486"},{"issue":"6","key":"1696_CR82","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1056\/NEJMoa2210054","volume":"389","author":"J Block","year":"2023","unstructured":"Block J, et al. Systemic inflammation and normocytic anemia in DOCK11 deficiency. N Engl J Med. 2023;389(6):527\u201339. https:\/\/doi.org\/10.1056\/NEJMoa2210054.","journal-title":"N Engl J Med"},{"key":"1696_CR83","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1016\/j.cyto.2018.10.023","volume":"113","author":"R Pescarmona","year":"2019","unstructured":"Pescarmona R, et al. Comparison of RT-qPCR and Nanostring in the measurement of blood interferon response for the diagnosis of type I interferonopathies. Cytokine. 2019;113:446\u201352. https:\/\/doi.org\/10.1016\/j.cyto.2018.10.023.","journal-title":"Cytokine"},{"issue":"8","key":"1696_CR84","doi-asserted-by":"publisher","first-page":"2872","DOI":"10.1093\/rheumatology\/keac698","volume":"62","author":"MJ Wahadat","year":"2023","unstructured":"Wahadat MJ, et al. Serum IFN\u03b12 levels are associated with disease activity and outperform IFN-I gene signature in a longitudinal childhood-onset SLE cohort. Rheumatol Oxf Engl. 2023;62(8):2872\u20139. https:\/\/doi.org\/10.1093\/rheumatology\/keac698.","journal-title":"Rheumatol Oxf Engl"},{"key":"1696_CR85","doi-asserted-by":"publisher","unstructured":"Nombel A, et al. Assessment of type I interferon response in routine practice in France in 2022. RMD Open. 2023; 9. https:\/\/doi.org\/10.1136\/rmdopen-2023-003211.","DOI":"10.1136\/rmdopen-2023-003211"},{"issue":"6","key":"1696_CR86","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1136\/ard-2022-223628","volume":"82","author":"J Rodr\u00edguez-Carrio","year":"2023","unstructured":"Rodr\u00edguez-Carrio J, et al. 2022 EULAR points to consider for the measurement, reporting and application of IFN-I pathway activation assays in clinical research and practice. Ann Rheum Dis. 2023;82(6):754\u201362. https:\/\/doi.org\/10.1136\/ard-2022-223628.","journal-title":"Ann Rheum Dis"},{"issue":"12","key":"1696_CR87","doi-asserted-by":"publisher","first-page":"1159","DOI":"10.1016\/S1474-4422(13)70258-8","volume":"12","author":"GI Rice","year":"2013","unstructured":"Rice GI, et al. Assessment of interferon-related biomarkers in Aicardi-Gouti\u00e8res syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol. 2013;12(12):1159\u201369. https:\/\/doi.org\/10.1016\/S1474-4422(13)70258-8.","journal-title":"Lancet Neurol"},{"issue":"9","key":"1696_CR88","doi-asserted-by":"publisher","first-page":"1537","DOI":"10.1007\/s00467-017-3646-z","volume":"32","author":"C Picard","year":"2017","unstructured":"Picard C, et al. Anti-C1q autoantibodies as markers of renal involvement in childhood-onset systemic lupus erythematosus. Pediatr Nephrol. 2017;32(9):1537\u201345. https:\/\/doi.org\/10.1007\/s00467-017-3646-z.","journal-title":"Pediatr Nephrol"},{"issue":"5","key":"1696_CR89","doi-asserted-by":"publisher","first-page":"e20201138","DOI":"10.1084\/jem.20201138","volume":"218","author":"J Hartl","year":"2021","unstructured":"Hartl J, et al. Autoantibody-mediated impairment of DNASE1L3 activity in sporadic systemic lupus erythematosus. J Exp Med. 2021;218(5):e20201138. https:\/\/doi.org\/10.1084\/jem.20201138.","journal-title":"J Exp Med"},{"issue":"16","key":"1696_CR90","doi-asserted-by":"publisher","first-page":"3112","DOI":"10.1182\/blood-2012-10-460741","volume":"121","author":"E Salzer","year":"2013","unstructured":"Salzer E, et al. B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C \u03b4. Blood. 2013;121(16):3112\u20136. https:\/\/doi.org\/10.1182\/blood-2012-10-460741.","journal-title":"Blood"},{"issue":"16","key":"1696_CR91","doi-asserted-by":"publisher","first-page":"3117","DOI":"10.1182\/blood-2012-12-469544","volume":"121","author":"HS Kuehn","year":"2013","unstructured":"Kuehn HS, et al. Loss-of-function of the protein kinase C \u03b4 (PKC\u03b4) causes a B-cell lymphoproliferative syndrome in humans. Blood. 2013;121(16):3117\u201325. https:\/\/doi.org\/10.1182\/blood-2012-12-469544.","journal-title":"Blood"},{"issue":"1","key":"1696_CR92","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1186\/s12969-018-0278-1","volume":"16","author":"L Lei","year":"2018","unstructured":"Lei L, et al. Successful use of ofatumumab in two cases of early-onset juvenile SLE with thrombocytopenia caused by a mutation in protein kinase C \u03b4. Pediatr Rheumatol. 2018;16(1):61. https:\/\/doi.org\/10.1186\/s12969-018-0278-1.","journal-title":"Pediatr Rheumatol"},{"key":"1696_CR93","doi-asserted-by":"publisher","first-page":"205873842110259","DOI":"10.1177\/20587384211025934","volume":"35","author":"H Gu","year":"2021","unstructured":"Gu H, et al. Sirolimus is effective in autoimmune lymphoproliferative syndrome-type III: a pedigree case report with homozygous variation PRKCD. Int J Immunopathol Pharmacol. 2021;35:20587384211025936. https:\/\/doi.org\/10.1177\/20587384211025934.","journal-title":"Int J Immunopathol Pharmacol"},{"key":"1696_CR94","doi-asserted-by":"publisher","first-page":"1209","DOI":"10.4049\/jimmunol.2200818","volume":"210","author":"M Moreews","year":"2023","unstructured":"Moreews M, et al. mTOR activation underlies enhanced B cell proliferation and autoimmunity in PrkcdG510S\/G510S mice. J Immunol. 2023;210:1209\u201321. https:\/\/doi.org\/10.4049\/jimmunol.2200818.","journal-title":"J Immunol"},{"issue":"4","key":"1696_CR95","doi-asserted-by":"publisher","first-page":"184","DOI":"10.5152\/eurjrheum.2020.20087","volume":"7","author":"L Akbar","year":"2020","unstructured":"Akbar L, Alsagheir R, Al-Mayouf SM. Efficacy of a sequential treatment by belimumab in monogenic systemic lupus erythematosus. Eur J Rheumatol. 2020;7(4):184\u20139. https:\/\/doi.org\/10.5152\/eurjrheum.2020.20087.","journal-title":"Eur J Rheumatol"},{"key":"1696_CR96","doi-asserted-by":"publisher","first-page":"940416","DOI":"10.3389\/fimmu.2022.940416","volume":"13","author":"F Chen","year":"2022","unstructured":"Chen F, et al. Belimumab in childhood systemic lupus erythematosus: a review of available data. Front Immunol. 2022;13:940416. https:\/\/doi.org\/10.3389\/fimmu.2022.940416.","journal-title":"Front Immunol"},{"issue":"3","key":"1696_CR97","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1007\/s13555-021-00517-9","volume":"11","author":"PJ G\u00f3mez-Arias","year":"2021","unstructured":"G\u00f3mez-Arias PJ, G\u00f3mez-Garc\u00eda F, Hern\u00e1ndez-Parada J, Montilla-L\u00f3pez AM, Ruano J, Parra-Peralbo E. Efficacy and safety of Janus kinase inhibitors in type I interferon-mediated monogenic autoinflammatory disorders: a scoping review. Dermatol Ther. 2021;11(3):733\u201350. https:\/\/doi.org\/10.1007\/s13555-021-00517-9.","journal-title":"Dermatol Ther"},{"key":"1696_CR98","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-023-01595-4","author":"KR Berrada","year":"2023","unstructured":"Berrada KR, et al. Lung transplantation under a Janus kinase inhibitor in three patients with SAVI syndrome. J Clin Immunol. 2023. https:\/\/doi.org\/10.1007\/s10875-023-01595-4.","journal-title":"J Clin Immunol"},{"key":"1696_CR99","unstructured":"Anifrolumab normalizes the type I interferon signature in a cohort of patients with type I interferonopathies. ACR meeting abstracts. https:\/\/acrabstracts.org\/abstract\/anifrolumab-normalizes-the-type-i-interferon-signature-in-a-cohort-of-patients-with-type-i-interferonopathies\/.\u00a0Accessed 17 Dec 2023."},{"issue":"4","key":"1696_CR100","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1007\/s10875-020-00754-1","volume":"40","author":"N Brodszki","year":"2020","unstructured":"Brodszki N, et al. European Society for Immunodeficiencies (ESID) and European reference network on rare primary immunodeficiency, autoinflammatory and autoimmune diseases (ERN RITA) complement guideline: deficiencies, diagnosis, and management. J Clin Immunol. 2020;40(4):576\u201391. https:\/\/doi.org\/10.1007\/s10875-020-00754-1.","journal-title":"J Clin Immunol"},{"issue":"10","key":"1696_CR101","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1038\/s41591-022-02017-5","volume":"28","author":"A Mackensen","year":"2022","unstructured":"Mackensen A, et al. Anti-CD19 CAR T cell therapy for refractory systemic lupus erythematosus. Nat Med. 2022;28(10):10. https:\/\/doi.org\/10.1038\/s41591-022-02017-5.","journal-title":"Nat Med"},{"issue":"6","key":"1696_CR102","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1056\/NEJMc2107725","volume":"385","author":"D Mougiakakos","year":"2021","unstructured":"Mougiakakos D, et al. CD19-targeted CAR T cells in refractory systemic lupus erythematosus. N Engl J Med. 2021;385(6):567\u20139. https:\/\/doi.org\/10.1056\/NEJMc2107725.","journal-title":"N Engl J Med"},{"issue":"1","key":"1696_CR103","doi-asserted-by":"publisher","first-page":"214","DOI":"10.55563\/clinexprheumatol\/zte897","volume":"39","author":"G Li","year":"2021","unstructured":"Li G, et al. Genetic heterogeneity in Chinese children with systemic lupus erythematosus. Clin Exp Rheumatol. 2021;39(1):214\u201322.","journal-title":"Clin Exp Rheumatol"},{"issue":"5","key":"1696_CR104","doi-asserted-by":"publisher","first-page":"671","DOI":"10.3899\/jrheum.220513","volume":"50","author":"MC Misztal","year":"2023","unstructured":"Misztal MC, et al. Genome-wide sequencing identified rare genetic variants for childhood-onset monogenic lupus. J Rheumatol. 2023;50(5):671\u20135. https:\/\/doi.org\/10.3899\/jrheum.220513.","journal-title":"J Rheumatol"},{"issue":"2","key":"1696_CR105","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1016\/j.jaci.2014.12.1941","volume":"136","author":"J de Inocencio","year":"2015","unstructured":"de Inocencio J, et al. Somatic NOD2 mosaicism in Blau syndrome. J Allergy Clin Immunol. 2015;136(2):484-487.e2. https:\/\/doi.org\/10.1016\/j.jaci.2014.12.1941.","journal-title":"J Allergy Clin Immunol"},{"issue":"6","key":"1696_CR106","doi-asserted-by":"publisher","first-page":"1109","DOI":"10.1136\/annrheumdis-2012-202913","volume":"72","author":"S Jim\u00e9nez-Trevi\u00f1o","year":"2013","unstructured":"Jim\u00e9nez-Trevi\u00f1o S, Gonz\u00e1lez-Roca E, Ruiz-Ortiz E, Yag\u00fce J, Ramos E, Ar\u00f3stegui JI. First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes. Ann Rheum Dis. 2013;72(6):1109\u201310. https:\/\/doi.org\/10.1136\/annrheumdis-2012-202913.","journal-title":"Ann Rheum Dis"},{"key":"1696_CR107","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1080\/10408363.2018.1488805","volume":"55","author":"M Labrousse","year":"2018","unstructured":"Labrousse M, et al. Mosaicism in autoinflammatory diseases: cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review. Crit Rev Clin Lab Sci. 2018;55:432\u201342. https:\/\/doi.org\/10.1080\/10408363.2018.1488805.","journal-title":"Crit Rev Clin Lab Sci"},{"issue":"14","key":"1696_CR108","doi-asserted-by":"publisher","first-page":"1409","DOI":"10.1056\/NEJMoa040036","volume":"351","author":"E Holzelova","year":"2004","unstructured":"Holzelova E, et al. Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med. 2004;351(14):1409\u201318. https:\/\/doi.org\/10.1056\/NEJMoa040036.","journal-title":"N Engl J Med"},{"issue":"27","key":"1696_CR109","doi-asserted-by":"publisher","first-page":"2628","DOI":"10.1056\/NEJMoa2026834","volume":"383","author":"DB Beck","year":"2020","unstructured":"Beck DB, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383(27):2628\u201338. https:\/\/doi.org\/10.1056\/NEJMoa2026834.","journal-title":"N Engl J Med"},{"issue":"2","key":"1696_CR110","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1007\/s00439-018-01966-7","volume":"138","author":"JC Alml\u00f6f","year":"2019","unstructured":"Alml\u00f6f JC, et al. Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus. Hum Genet. 2019;138(2):141\u201350. https:\/\/doi.org\/10.1007\/s00439-018-01966-7.","journal-title":"Hum Genet"},{"issue":"SI2","key":"1696_CR111","doi-asserted-by":"publisher","first-page":"SI210","DOI":"10.1093\/rheumatology\/keac275","volume":"62","author":"A Charras","year":"2023","unstructured":"Charras A, et al. Panel sequencing links rare, likely damaging gene variants with distinct clinical phenotypes and outcomes in juvenile-onset SLE. Rheumatology. 2023;62(SI2):SI210\u201325. https:\/\/doi.org\/10.1093\/rheumatology\/keac275.","journal-title":"Rheumatology"},{"key":"1696_CR112","doi-asserted-by":"publisher","first-page":"1187","DOI":"10.1016\/j.ekir.2019.04.014","volume":"4","author":"S Boulisfane-El Khalifi","year":"2019","unstructured":"Boulisfane-El Khalifi S, et al. COPA syndrome as a cause of lupus nephritis. Kidney Int Rep. 2019;4:1187\u20131189. https:\/\/doi.org\/10.1016\/j.ekir.2019.04.014.","journal-title":"Kidney Int Rep"},{"issue":"4","key":"1696_CR113","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1007\/s10875-023-01438-2","volume":"43","author":"YJ Crow","year":"2023","unstructured":"Crow YJ, AGS group. Clinical non-penetrance associated with biallelic mutations in the RNase H2 complex. J Clin Immunol. 2023;43(4):706\u20138. https:\/\/doi.org\/10.1007\/s10875-023-01438-2.","journal-title":"J Clin Immunol"},{"issue":"2","key":"1696_CR114","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1101\/gr.100289.109","volume":"20","author":"BM Javierre","year":"2010","unstructured":"Javierre BM, et al. Changes in the pattern of DNA methylation associate with twin discordance in systemic lupus erythematosus. Genome Res. 2010;20(2):170\u20139. https:\/\/doi.org\/10.1101\/gr.100289.109.","journal-title":"Genome Res"},{"key":"1696_CR115","doi-asserted-by":"publisher","first-page":"109299","DOI":"10.1016\/j.clim.2023.109299","volume":"249","author":"J Garau","year":"2023","unstructured":"Garau J, et al. Altered DNA methylation and gene expression predict disease severity in patients with Aicardi-Gouti\u00e8res syndrome. Clin Immunol Orlando Fla. 2023;249:109299. https:\/\/doi.org\/10.1016\/j.clim.2023.109299.","journal-title":"Clin Immunol Orlando Fla"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-024-01696-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10875-024-01696-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-024-01696-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T06:12:48Z","timestamp":1719209568000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10875-024-01696-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,15]]},"references-count":115,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["1696"],"URL":"https:\/\/doi.org\/10.1007\/s10875-024-01696-8","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,15]]},"assertion":[{"value":"26 January 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 March 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 April 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All the figures were created with BioRender.com.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Credits"}},{"value":"AB reports consulting fees from Kabi, Roche Chugai, GlaxoSmithKline, AbbVie, Novartis, and Boehringer Ingelheim; research grants from Boehringer Ingelheim, ANR, and Horizon Europe outside the scope of this comment; and is an unpaid co-chair of the French National Network on Rare Autoimmune and Autoinflammatory Diseases. All other authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"99"}}