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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
Drent M, Crouser ED, Grunewald J
N Engl J Med 2021 Sep 9;385(11):1018-1032. doi: 10.1056/NEJMra2101555. PMID: 34496176
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

Recent clinical studies

Etiology

Kouranos V, Wells AU
Clin Chest Med 2024 Mar;45(1):45-57. Epub 2023 Sep 4 doi: 10.1016/j.ccm.2023.08.002. PMID: 38245370
Cozier YC, Arkema EV
Clin Chest Med 2024 Mar;45(1):1-13. Epub 2023 Aug 1 doi: 10.1016/j.ccm.2023.06.004. PMID: 38245359
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
Arkema EV, Cozier YC
Curr Opin Pulm Med 2020 Sep;26(5):527-534. doi: 10.1097/MCP.0000000000000715. PMID: 32701677Free PMC Article
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

Abdelghaffar M, Hwang E, Damsky W
Clin Chest Med 2024 Mar;45(1):71-89. Epub 2023 Oct 28 doi: 10.1016/j.ccm.2023.08.004. PMID: 38245372
Ribeiro Neto ML, Jellis CL, Cremer PC, Harper LJ, Taimeh Z, Culver DA
Clin Chest Med 2024 Mar;45(1):105-118. Epub 2023 Sep 4 doi: 10.1016/j.ccm.2023.08.006. PMID: 38245360
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
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

Cheng RK, Kittleson MM, Beavers CJ, Birnie DH, Blankstein R, Bravo PE, Gilotra NA, Judson MA, Patton KK, Rose-Bovino L; American Heart Association Heart Failure and Transplantation Committee of the Council on Clinical Cardiology, and Council on Cardiovascular and Stroke Nursing
Circulation 2024 May 21;149(21):e1197-e1216. Epub 2024 Apr 18 doi: 10.1161/CIR.0000000000001240. PMID: 38634276
Dhooria S, Sehgal IS, Agarwal R, Muthu V, Prasad KT, Dogra P, Debi U, Garg M, Bal A, Gupta N, Aggarwal AN
Eur Respir J 2023 Sep;62(3) Epub 2023 Sep 9 doi: 10.1183/13993003.00198-2023. PMID: 37690784
Gerke AK
Front Immunol 2020;11:545413. Epub 2020 Nov 19 doi: 10.3389/fimmu.2020.545413. PMID: 33329511Free PMC Article
Sève P, Jamilloux Y, Tilikete C, Gerfaud-Valentin M, Kodjikian L, El Jammal T
Semin Respir Crit Care Med 2020 Oct;41(5):673-688. Epub 2020 Aug 10 doi: 10.1055/s-0040-1710536. PMID: 32777852
Tan JL, Fong HK, Birati EY, Han Y
Am J Cardiol 2019 Feb 1;123(3):513-522. Epub 2018 Nov 6 doi: 10.1016/j.amjcard.2018.10.021. PMID: 30503798

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
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
Piekarski E, Benali K, Rouzet F
Semin Nucl Med 2018 May;48(3):246-260. Epub 2018 Mar 9 doi: 10.1053/j.semnuclmed.2018.02.005. PMID: 29626942

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
De Vries J, Michielsen H, Van Heck GL, Drent M
Br J Health Psychol 2004 Sep;9(Pt 3):279-91. doi: 10.1348/1359107041557048. PMID: 15296678

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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