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Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome

MedGen UID:
1842754
Concept ID:
C5680416
Disease or Syndrome
Synonyms: early-onset autoimmunity-autoinflammation-immunodeficiency syndrome; SOCS1-related autoinflammatory syndrome
 
Monarch Initiative: MONDO:0850068
Orphanet: ORPHA619948

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEarly-onset autoimmunity-autoinflammation-immunodeficiency syndrome

Professional guidelines

PubMed

Jung E, Romero R, Suksai M, Gotsch F, Chaemsaithong P, Erez O, Conde-Agudelo A, Gomez-Lopez N, Berry SM, Meyyazhagan A, Yoon BH
Am J Obstet Gynecol 2024 Mar;230(3S):S807-S840. Epub 2023 Mar 21 doi: 10.1016/j.ajog.2023.02.002. PMID: 38233317Free PMC Article
Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S
Lancet Neurol 2022 Jun;21(6):563-576. Epub 2022 Apr 25 doi: 10.1016/S1474-4422(22)00035-7. PMID: 35483386Free PMC Article
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. PMID: 29959430Free PMC Article

Recent clinical studies

Etiology

Polsinelli AJ, Apostolova LG
Continuum (Minneap Minn) 2022 Jun 1;28(3):676-701. doi: 10.1212/CON.0000000000001082. PMID: 35678398Free PMC Article
Mauri G, Sartore-Bianchi A, Russo AG, Marsoni S, Bardelli A, Siena S
Mol Oncol 2019 Feb;13(2):109-131. Epub 2018 Dec 22 doi: 10.1002/1878-0261.12417. PMID: 30520562Free PMC Article
Pearlman R, Frankel WL, Swanson B, Zhao W, Yilmaz A, Miller K, Bacher J, Bigley C, Nelsen L, Goodfellow PJ, Goldberg RM, Paskett E, Shields PG, Freudenheim JL, Stanich PP, Lattimer I, Arnold M, Liyanarachchi S, Kalady M, Heald B, Greenwood C, Paquette I, Prues M, Draper DJ, Lindeman C, Kuebler JP, Reynolds K, Brell JM, Shaper AA, Mahesh S, Buie N, Weeman K, Shine K, Haut M, Edwards J, Bastola S, Wickham K, Khanduja KS, Zacks R, Pritchard CC, Shirts BH, Jacobson A, Allen B, de la Chapelle A, Hampel H; Ohio Colorectal Cancer Prevention Initiative Study Group
JAMA Oncol 2017 Apr 1;3(4):464-471. doi: 10.1001/jamaoncol.2016.5194. PMID: 27978560Free PMC Article
Colvin H, Yamamoto K, Wada N, Mori M
Surg Oncol Clin N Am 2015 Oct;24(4):765-77. Epub 2015 Jul 26 doi: 10.1016/j.soc.2015.06.002. PMID: 26363540
Cross JH, Guerrini R
Handb Clin Neurol 2013;111:619-26. doi: 10.1016/B978-0-444-52891-9.00064-6. PMID: 23622209

Diagnosis

Faccioli N, Poitou C, Clément K, Dubern B
J Clin Res Pediatr Endocrinol 2023 May 29;15(2):108-119. Epub 2023 May 16 doi: 10.4274/jcrpe.galenos.2023.2023-3-2. PMID: 37191347Free PMC Article
Polsinelli AJ, Apostolova LG
Continuum (Minneap Minn) 2022 Jun 1;28(3):676-701. doi: 10.1212/CON.0000000000001082. PMID: 35678398Free PMC Article
Koch H, Weber YG
Epilepsy Behav 2019 Feb;91:90-93. Epub 2018 Jul 31 doi: 10.1016/j.yebeh.2018.06.010. PMID: 30076047
Thaker VV
Adolesc Med State Art Rev 2017 Fall;28(2):379-405. PMID: 30416642Free PMC Article
Ho TH, Jonasch E
J Natl Compr Canc Netw 2014 Sep;12(9):1347-55. doi: 10.6004/jnccn.2014.0129. PMID: 25190700

Therapy

Pascart T, Ducoulombier V, Jauffret C
Joint Bone Spine 2024 Sep;91(5):105704. Epub 2024 Feb 7 doi: 10.1016/j.jbspin.2024.105704. PMID: 38336273
Faccioli N, Poitou C, Clément K, Dubern B
J Clin Res Pediatr Endocrinol 2023 May 29;15(2):108-119. Epub 2023 May 16 doi: 10.4274/jcrpe.galenos.2023.2023-3-2. PMID: 37191347Free PMC Article
Briggs-Steinberg C, Roth P
Pediatr Rev 2023 Jan 1;44(1):14-22. doi: 10.1542/pir.2020-001164. PMID: 36587021
Ryan DH
Handb Exp Pharmacol 2022;274:387-414. doi: 10.1007/164_2021_560. PMID: 34783910
Golub V, Reddy DS
Adv Exp Med Biol 2021;1264:93-110. doi: 10.1007/978-3-030-57369-0_7. PMID: 33332006

Prognosis

Spaander MCW, Zauber AG, Syngal S, Blaser MJ, Sung JJ, You YN, Kuipers EJ
Nat Rev Dis Primers 2023 Apr 27;9(1):21. doi: 10.1038/s41572-023-00432-7. PMID: 37105987Free PMC Article
Erez O, Romero R, Jung E, Chaemsaithong P, Bosco M, Suksai M, Gallo DM, Gotsch F
Am J Obstet Gynecol 2022 Feb;226(2S):S786-S803. doi: 10.1016/j.ajog.2021.12.001. PMID: 35177220Free PMC Article
O'Sullivan DE, Sutherland RL, Town S, Chow K, Fan J, Forbes N, Heitman SJ, Hilsden RJ, Brenner DR
Clin Gastroenterol Hepatol 2022 Jun;20(6):1229-1240.e5. Epub 2021 Jan 29 doi: 10.1016/j.cgh.2021.01.037. PMID: 33524598
Chen H, Zheng X, Zong X, Li Z, Li N, Hur J, Fritz CD, Chapman W Jr, Nickel KB, Tipping A, Colditz GA, Giovannucci EL, Olsen MA, Fields RC, Cao Y
Gut 2021 Jun;70(6):1147-1154. Epub 2020 Oct 9 doi: 10.1136/gutjnl-2020-321661. PMID: 33037055Free PMC Article
Mauri G, Sartore-Bianchi A, Russo AG, Marsoni S, Bardelli A, Siena S
Mol Oncol 2019 Feb;13(2):109-131. Epub 2018 Dec 22 doi: 10.1002/1878-0261.12417. PMID: 30520562Free PMC Article

Clinical prediction guides

Cornish EF, McDonnell T, Williams DJ
Front Immunol 2022;13:825075. Epub 2022 Apr 22 doi: 10.3389/fimmu.2022.825075. PMID: 35529853Free PMC Article
Veredice C, Bianco F, Contaldo I, Orteschi D, Stefanini MC, Battaglia D, Lettori D, Guzzetta F, Zollino M
Epilepsia 2009 Jul;50(7):1810-5. Epub 2009 Apr 19 doi: 10.1111/j.1528-1167.2009.02078.x. PMID: 19486360
Miller J, Turan S, Baschat AA
Semin Perinatol 2008 Aug;32(4):274-80. doi: 10.1053/j.semperi.2008.04.010. PMID: 18652928
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ
Am J Hum Genet 2007 Oct;81(4):713-25. Epub 2007 Sep 4 doi: 10.1086/521373. PMID: 17846997Free PMC Article
Tonetti MS, Mombelli A
Ann Periodontol 1999 Dec;4(1):39-53. doi: 10.1902/annals.1999.4.1.39. PMID: 10863374

Recent systematic reviews

Chandana SR, Woods LM, Maxwell F, Gandolfo R, Bekaii-Saab T
Eur J Cancer 2024 Feb;198:113471. Epub 2023 Dec 12 doi: 10.1016/j.ejca.2023.113471. PMID: 38154392
Liu LL, Skribek M, Harmenberg U, Gerling M
J Immunother Cancer 2023 Mar;11(3) doi: 10.1136/jitc-2022-005841. PMID: 36878533Free PMC Article
O'Sullivan DE, Sutherland RL, Town S, Chow K, Fan J, Forbes N, Heitman SJ, Hilsden RJ, Brenner DR
Clin Gastroenterol Hepatol 2022 Jun;20(6):1229-1240.e5. Epub 2021 Jan 29 doi: 10.1016/j.cgh.2021.01.037. PMID: 33524598
Lobo S, Benusiglio PR, Coulet F, Boussemart L, Golmard L, Spier I, Hüneburg R, Aretz S, Colas C, Oliveira C
Eur J Med Genet 2021 Oct;64(10):104316. Epub 2021 Aug 21 doi: 10.1016/j.ejmg.2021.104316. PMID: 34425242
Davis DH, Creavin ST, Yip JL, Noel-Storr AH, Brayne C, Cullum S
Cochrane Database Syst Rev 2021 Jul 13;7(7):CD010775. doi: 10.1002/14651858.CD010775.pub3. PMID: 34255351Free PMC Article

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