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Sarcoidosis

MedGen UID:
48554
Concept ID:
C0036202
Disease or Syndrome
Synonyms: Sarcoid of Boeck; Schaumann's disease
SNOMED CT: Boeck's sarcoidosis (31541009); Sarcoidosis (31541009); Boeck's sarcoid (31541009); Besnier-Boeck-Schaumann syndrome (31541009); Miliary lupoid of Boeck (31541009); Lupus pernio of Besnier (31541009); Benign lymphogranulomatosis of Schaumann (31541009); Darier-Roussy sarcoid (31541009)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
 
Monarch Initiative: MONDO:0019338
Orphanet: ORPHA797

Definition

A rare multisystemic, autoinflammatory disorder of unknown etiology characterized by the formation of immune, non-caseating granulomas in any organ(s), leading to variable clinical symptoms and severity. Clinical presentation is typically with persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and Löfgren syndrome. [from ORDO]

Term Hierarchy

Professional guidelines

PubMed

Belperio JA, Shaikh F, Abtin FG, Fishbein MC, Weigt SS, Saggar R, Lynch JP 3rd
JAMA 2022 Mar 1;327(9):856-867. doi: 10.1001/jama.2022.1570. PMID: 35230389
Baughman RP, Valeyre D, Korsten P, Mathioudakis AG, Wuyts WA, Wells A, Rottoli P, Nunes H, Lower EE, Judson MA, Israel-Biet D, Grutters JC, Drent M, Culver DA, Bonella F, Antoniou K, Martone F, Quadder B, Spitzer G, Nagavci B, Tonia T, Rigau D, Ouellette DR
Eur Respir J 2021 Dec;58(6) Epub 2021 Dec 16 doi: 10.1183/13993003.04079-2020. PMID: 34140301
Markatis E, Afthinos A, Antonakis E, Papanikolaou IC
Rev Cardiovasc Med 2020 Sep 30;21(3):321-338. doi: 10.31083/j.rcm.2020.03.102. PMID: 33070538

Recent clinical studies

Etiology

Song M, Manansala M, Parmar PJ, Ascoli C, Rubinstein I, Sweiss NJ
Curr Opin Pulm Med 2021 Sep 1;27(5):448-454. doi: 10.1097/MCP.0000000000000809. PMID: 34261087
Spagnolo P, Maier LA
Curr Opin Pulm Med 2021 Sep 1;27(5):423-429. doi: 10.1097/MCP.0000000000000798. PMID: 34175860Free PMC Article
Arkema EV, Cozier YC
Curr Opin Pulm Med 2020 Sep;26(5):527-534. doi: 10.1097/MCP.0000000000000715. PMID: 32701677Free PMC Article
Goldman C, Judson MA
Respir Med 2020 Sep;171:106081. Epub 2020 Jul 3 doi: 10.1016/j.rmed.2020.106081. PMID: 32658838
Kouranos V, Jacob J, Wells AU
Clin Chest Med 2015 Dec;36(4):715-26. Epub 2015 Oct 1 doi: 10.1016/j.ccm.2015.08.012. PMID: 26593144

Diagnosis

Cooper D, Suau S
Immunol Allergy Clin North Am 2023 Aug;43(3):583-591. doi: 10.1016/j.iac.2022.10.011. PMID: 37394261
Belperio JA, Shaikh F, Abtin FG, Fishbein MC, Weigt SS, Saggar R, Lynch JP 3rd
JAMA 2022 Mar 1;327(9):856-867. doi: 10.1001/jama.2022.1570. PMID: 35230389
Cooper D, Suau S
Emerg Med Clin North Am 2022 Feb;40(1):149-157. Epub 2021 Oct 29 doi: 10.1016/j.emc.2021.08.012. PMID: 34782085
Thillai M, Atkins CP, Crawshaw A, Hart SP, Ho LP, Kouranos V, Patterson K, Screaton NJ, Whight J, Wells AU
Thorax 2021 Jan;76(1):4-20. Epub 2020 Dec 2 doi: 10.1136/thoraxjnl-2019-214348. PMID: 33268456
Llanos O, Hamzeh N
Med Clin North Am 2019 May;103(3):527-534. Epub 2019 Feb 21 doi: 10.1016/j.mcna.2018.12.011. PMID: 30955519

Therapy

Culver DA, Aryal S, Barney J, Hsia CCW, James WE, Maier LA, Marts LT, Obi ON, Sporn PHS, Sweiss NJ, Shukla S, Kinnersley N, Walker G, Baughman R
Chest 2023 Apr;163(4):881-890. Epub 2022 Nov 8 doi: 10.1016/j.chest.2022.10.037. PMID: 36356657Free PMC Article
Sakkat A, Cox G, Khalidi N, Larche M, Beattie K, Renzoni EA, Morar N, Kouranos V, Kolb M, Hambly N
Respir Res 2022 Mar 9;23(1):54. doi: 10.1186/s12931-022-01971-5. PMID: 35264154Free PMC Article
Gerke AK
Front Immunol 2020;11:545413. Epub 2020 Nov 19 doi: 10.3389/fimmu.2020.545413. PMID: 33329511Free PMC Article
Gupta R, Baughman RP
Semin Respir Crit Care Med 2020 Oct;41(5):700-715. Epub 2020 Aug 10 doi: 10.1055/s-0040-1709495. PMID: 32777853
Mankad P, Mitchell B, Birnie D, Kron J
Curr Cardiol Rep 2019 Nov 25;21(12):152. doi: 10.1007/s11886-019-1238-1. PMID: 31768666Free PMC Article

Prognosis

Sakkat A, Cox G, Khalidi N, Larche M, Beattie K, Renzoni EA, Morar N, Kouranos V, Kolb M, Hambly N
Respir Res 2022 Mar 9;23(1):54. doi: 10.1186/s12931-022-01971-5. PMID: 35264154Free PMC Article
Arkema EV, Cozier YC
Curr Opin Pulm Med 2020 Sep;26(5):527-534. doi: 10.1097/MCP.0000000000000715. PMID: 32701677Free PMC Article
Li X, Cao X, Guo M, Xie M, Liu X
BMJ 2020 Feb 19;368:m234. doi: 10.1136/bmj.m234. PMID: 32075787Free PMC Article
Baughman RP, Wells A
Curr Opin Pulm Med 2019 Sep;25(5):497-504. doi: 10.1097/MCP.0000000000000612. PMID: 31365384
Blanc PD, Annesi-Maesano I, Balmes JR, Cummings KJ, Fishwick D, Miedinger D, Murgia N, Naidoo RN, Reynolds CJ, Sigsgaard T, Torén K, Vinnikov D, Redlich CA
Am J Respir Crit Care Med 2019 Jun 1;199(11):1312-1334. doi: 10.1164/rccm.201904-0717ST. PMID: 31149852Free PMC Article

Clinical prediction guides

Cottin V, Hirani NA, Hotchkin DL, Nambiar AM, Ogura T, Otaola M, Skowasch D, Park JS, Poonyagariyagorn HK, Wuyts W, Wells AU
Eur Respir Rev 2018 Dec 31;27(150) Epub 2018 Dec 21 doi: 10.1183/16000617.0076-2018. PMID: 30578335Free PMC Article
Patel AR, Kramer CM
JACC Cardiovasc Imaging 2017 Oct;10(10 Pt A):1180-1193. doi: 10.1016/j.jcmg.2017.08.005. PMID: 28982571Free PMC Article
Muchtar E, Blauwet LA, Gertz MA
Circ Res 2017 Sep 15;121(7):819-837. doi: 10.1161/CIRCRESAHA.117.310982. PMID: 28912185
Chopra A, Kalkanis A, Judson MA
Expert Rev Clin Immunol 2016 Nov;12(11):1191-1208. Epub 2016 Jun 27 doi: 10.1080/1744666X.2016.1196135. PMID: 27253883
Blauwet LA, Cooper LT
Prog Cardiovasc Dis 2010 Jan-Feb;52(4):274-88. doi: 10.1016/j.pcad.2009.11.006. PMID: 20109598Free PMC Article

Recent systematic reviews

Cheng CY, Baritussio A, Giordani AS, Iliceto S, Marcolongo R, Caforio ALP
Autoimmun Rev 2022 Apr;21(4):103037. Epub 2022 Jan 5 doi: 10.1016/j.autrev.2022.103037. PMID: 34995763
Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
Murphy MJ, Cohen JM, Vesely MD, Damsky W
J Am Acad Dermatol 2022 May;86(5):1080-1091. Epub 2020 Dec 8 doi: 10.1016/j.jaad.2020.12.010. PMID: 33307146
Dowman L, Hill CJ, May A, Holland AE
Cochrane Database Syst Rev 2021 Feb 1;2(2):CD006322. doi: 10.1002/14651858.CD006322.pub4. PMID: 34559419Free PMC Article
Fritz D, van de Beek D, Brouwer MC
BMC Neurol 2016 Nov 15;16(1):220. doi: 10.1186/s12883-016-0741-x. PMID: 27846819Free PMC Article

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