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Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome

MedGen UID:
1003103
Concept ID:
CN322794
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

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
Cunin V
Orthop Traumatol Surg Res 2015 Feb;101(1 Suppl):S109-18. Epub 2015 Jan 23 doi: 10.1016/j.otsr.2014.06.032. PMID: 25623270

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
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
Benusiglio PR, Fallet V, Sanchis-Borja M, Coulet F, Cadranel J
Eur Respir Rev 2021 Dec 31;30(162) Epub 2021 Oct 20 doi: 10.1183/16000617.0045-2021. PMID: 34670806Free 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

Diagnosis

Polsinelli AJ, Apostolova LG
Continuum (Minneap Minn) 2022 Jun 1;28(3):676-701. doi: 10.1212/CON.0000000000001082. PMID: 35678398Free PMC Article
Bayat A, Bayat M, Rubboli G, Møller RS
Genes (Basel) 2021 Jul 8;12(7) doi: 10.3390/genes12071051. PMID: 34356067Free PMC Article
Schlech WF
Microbiol Spectr 2019 May;7(3) doi: 10.1128/microbiolspec.GPP3-0014-2018. PMID: 31837132
Karol LA
J Pediatr Orthop 2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S38-S43. doi: 10.1097/BPO.0000000000001351. PMID: 31169646
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

Therapy

Ryan DH
Handb Exp Pharmacol 2022;274:387-414. doi: 10.1007/164_2021_560. PMID: 34783910
Silvestri R, DelRosso LM
Sleep Med Clin 2021 Jun;16(2):305-314. Epub 2021 Apr 10 doi: 10.1016/j.jsmc.2021.02.006. PMID: 33985655
Golub V, Reddy DS
Adv Exp Med Biol 2021;1264:93-110. doi: 10.1007/978-3-030-57369-0_7. PMID: 33332006
Aggarwal A, Bhatt M
Curr Opin Neurol 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. PMID: 32657896
Karol LA
J Pediatr Orthop 2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S38-S43. doi: 10.1097/BPO.0000000000001351. PMID: 31169646

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: 37105987
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
Yu Y, Zheng M, Zhu W, Zhao F, Guan B, Shen Q, Yang F, He Q, Li X
Urol Oncol 2021 Nov;39(11):791.e9-791.e16. Epub 2021 Aug 27 doi: 10.1016/j.urolonc.2021.07.026. PMID: 34462205
Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D
Clin J Am Soc Nephrol 2015 Apr 7;10(4):703-9. Epub 2015 Feb 3 doi: 10.2215/CJN.10581014. PMID: 25649157Free PMC Article
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

Qiu Y, Zhou X, Fu S, Luo S, Li Y
Acta Derm Venereol 2022 Feb 8;102:adv00645. doi: 10.2340/actadv.v101.1012. PMID: 34935992Free 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
Contaldo M, Lucchese A, Romano A, Della Vella F, Di Stasio D, Serpico R, Petruzzi M
Int J Mol Sci 2021 Aug 26;22(17) doi: 10.3390/ijms22179251. PMID: 34502159Free PMC Article
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
Warren N, O'Gorman C, Lehn A, Siskind D
J Neurol Neurosurg Psychiatry 2017 Dec;88(12):1060-1064. Epub 2017 Oct 10 doi: 10.1136/jnnp-2017-315985. PMID: 29018160

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