{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T15:23:27Z","timestamp":1789917807960,"version":"4.0.1"},"reference-count":36,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,4,9]],"date-time":"2012-04-09T00:00:00Z","timestamp":1333929600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The association of RASopathies [Noonan syndrome (NS) and Noonan\u2010related syndromes] and autoimmune disorders has been reported sporadically. However, a concomitant evaluation of autoimmune diseases and an assessment of multiple autoantibodies in a large population of patients with molecularly confirmed RASopathy have not been performed. The clinical and laboratory features were analyzed in 42 RASopathy patients, the majority of whom had NS and five individuals had Noonan\u2010related disorders. The following autoantibodies were measured: Anti\u2010nuclear antibodies, anti\u2010double stranded DNA, anti\u2010SS\u2010A\/Ro, anti\u2010SS\u2010B\/La, anti\u2010Sm, anti\u2010RNP, anti\u2010Scl\u201070, anti\u2010Jo\u20101, anti\u2010ribosomal P, IgG and IgM anticardiolipin (aCL), thyroid, anti\u2010smooth muscle, anti\u2010endomysial (AE), anti\u2010liver cytosolic protein type 1 (LC1), anti\u2010parietal cell (APC), anti\u2010mitochondrial (AM) antibodies, anti\u2010liver\u2010kidney microsome type 1 antibodies (LKM\u20101), and lupus anticoagulant. Six patients (14%) fulfilled the clinical criteria for autoimmune diseases [systemic lupus erythematous, polyendocrinopathy (autoimmune thyroiditis and celiac disease), primary antiphospholipid syndrome (PAPS), autoimmune hepatitis, vitiligo, and autoimmune thyroiditis]. Autoimmune antibodies were observed in 52% of the patients. Remarkably, three (7%) of the patients had specific gastrointestinal and liver autoantibodies without clinical findings. Autoimmune diseases and autoantibodies were frequently present in patients with RASopathies. Until a final conclusion of the real incidence of autoimmunity in Rasopathy is drawn, the physicians should be alerted to the possibility of this association and the need for a fast diagnosis, proper referral to a specialist and ultimately, adequate treatment. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35290","type":"journal-article","created":{"date-parts":[[2012,4,9]],"date-time":"2012-04-09T20:12:20Z","timestamp":1334002340000},"page":"1077-1082","source":"Crossref","is-referenced-by-count":93,"title":["Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies"],"prefix":"10.1002","volume":"158A","author":[{"given":"Caio R.D.C.","family":"Quaio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joz\u00e9lio F.","family":"Carvalho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clovis A.","family":"da Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cleonice","family":"Bueno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda S.","family":"Brasil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre C.","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander A.L.","family":"Jorge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexsandra C.","family":"Malaquias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chong A.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00e9bora R.","family":"Bertola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,4,9]]},"reference":[{"key":"e_1_2_6_2_1","article-title":"Organ\u2010specific autoantibodies and autoimmune diseases in juvenile systemic lupus erythematosus and juvenile dermatomyositis patients","author":"Aikawa NE","year":"2012","journal-title":"Clin Exp Rheumatol."},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000127467.04018.6d"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(99)80297-9"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1054-139X(02)00364-6"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0102-311X2011000100016"},{"key":"e_1_2_6_7_1","first-page":"181","article-title":"Noonan syndrome\u2010an unusual family with above average intelligence, a high incidence of cancer and rare type of vasculitis","volume":"12","author":"Berberich MS","year":"1976","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjmed.2010.02.019"},{"key":"e_1_2_6_9_1","first-page":"843","article-title":"Ullrich\u2010 Turner syndrome in the male:Review of the literature and report of a case with Iymphocytic (Hashimoto's) thyroiditis","volume":"41","author":"Chaves\u2010Carballo E","year":"1966","journal-title":"Mayo Clin Proc"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2134"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrrheum.2010.47"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1383\/medc.2005.33.11.27"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780400928"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/eji.1830201123"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10681"},{"key":"e_1_2_6_16_1","first-page":"556","article-title":"Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation","volume":"28","author":"Leventopoulos G","year":"2010","journal-title":"Clin Exp Rheumatol"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/0961203308094996"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31017"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010722)102:1<59::AID-AJMG1351>3.0.CO;2-O"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2006.01753.x"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2007.08.008"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/nri1530"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.smim.2006.03.013"},{"key":"e_1_2_6_24_1","unstructured":"National Institutes of Health Autoimmune Disease Coordinating Committee Report 2002. Bethesda (MD): The Institutes; 2002."},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0210-5705(03)70452-X"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.042796"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-3207"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.32708"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.67.2.178"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST0340858"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2003.16.2.217"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2010.09.002"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530213"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1080\/08916930701464897"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80482-2"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(76)90764-6"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2004.05.015"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35290","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35290","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T00:25:22Z","timestamp":1698711922000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35290"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,9]]},"references-count":36,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["10.1002\/ajmg.a.35290"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35290","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,9]]}}}