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IgG4-related disease

MedGen UID:
473761
Concept ID:
C3203653
Disease or Syndrome
Synonyms: IgG4 Related Sclerosing Disease; IgG4-Related Sclerosing Disease; IgG4-Related Sclerosing Diseases; Immunoglobulin G4 Related Sclerosing Disease; Immunoglobulin G4-Related Sclerosing Disease; Sclerosing Disease, IgG4-Related
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0017287
Orphanet: ORPHA284264

Definition

An uncommon, mass-forming lesion that affects single or multiple sites. It is characterized by the presence of a lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells and storiform tissue fibrosis, and increased serum IgG4 levels. It usually occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. Patients usually present with fatigue and weight loss. It responds to steroids treatment and follows a course of remissions and recurrences. [from NCI]

Term Hierarchy

Professional guidelines

PubMed

Lanzillotta M, Mancuso G, Della-Torre E
BMJ 2020 Jun 16;369:m1067. doi: 10.1136/bmj.m1067. PMID: 32546500
Wallace ZS, Naden RP, Chari S, Choi H, Della-Torre E, Dicaire JF, Hart PA, Inoue D, Kawano M, Khosroshahi A, Kubota K, Lanzillotta M, Okazaki K, Perugino CA, Sharma A, Saeki T, Sekiguchi H, Schleinitz N, Stone JR, Takahashi N, Umehara H, Webster G, Zen Y, Stone JH; American College of Rheumatology/European League Against Rheumatism IgG4-Related Disease Classification Criteria Working Group
Arthritis Rheumatol 2020 Jan;72(1):7-19. Epub 2019 Dec 2 doi: 10.1002/art.41120. PMID: 31793250
Deshpande V, Zen Y, Chan JK, Yi EE, Sato Y, Yoshino T, Klöppel G, Heathcote JG, Khosroshahi A, Ferry JA, Aalberse RC, Bloch DB, Brugge WR, Bateman AC, Carruthers MN, Chari ST, Cheuk W, Cornell LD, Fernandez-Del Castillo C, Forcione DG, Hamilos DL, Kamisawa T, Kasashima S, Kawa S, Kawano M, Lauwers GY, Masaki Y, Nakanuma Y, Notohara K, Okazaki K, Ryu JK, Saeki T, Sahani DV, Smyrk TC, Stone JR, Takahira M, Webster GJ, Yamamoto M, Zamboni G, Umehara H, Stone JH
Mod Pathol 2012 Sep;25(9):1181-92. Epub 2012 May 18 doi: 10.1038/modpathol.2012.72. PMID: 22596100

Recent clinical studies

Etiology

Perugino CA, Stone JH
Nat Rev Rheumatol 2020 Dec;16(12):702-714. Epub 2020 Sep 16 doi: 10.1038/s41584-020-0500-7. PMID: 32939060
Bruce-Brand C, Schneider JW, Schubert P
J Clin Pathol 2020 Nov;73(11):697-705. Epub 2020 Jun 26 doi: 10.1136/jclinpath-2020-206733. PMID: 32591351
Wallace ZS, Naden RP, Chari S, Choi H, Della-Torre E, Dicaire JF, Hart PA, Inoue D, Kawano M, Khosroshahi A, Kubota K, Lanzillotta M, Okazaki K, Perugino CA, Sharma A, Saeki T, Sekiguchi H, Schleinitz N, Stone JR, Takahashi N, Umehara H, Webster G, Zen Y, Stone JH; American College of Rheumatology/European League Against Rheumatism IgG4-Related Disease Classification Criteria Working Group
Arthritis Rheumatol 2020 Jan;72(1):7-19. Epub 2019 Dec 2 doi: 10.1002/art.41120. PMID: 31793250
Kamisawa T, Okazaki K
Curr Top Microbiol Immunol 2017;401:19-33. doi: 10.1007/82_2016_36. PMID: 28197739
Deshpande V, Zen Y, Chan JK, Yi EE, Sato Y, Yoshino T, Klöppel G, Heathcote JG, Khosroshahi A, Ferry JA, Aalberse RC, Bloch DB, Brugge WR, Bateman AC, Carruthers MN, Chari ST, Cheuk W, Cornell LD, Fernandez-Del Castillo C, Forcione DG, Hamilos DL, Kamisawa T, Kasashima S, Kawa S, Kawano M, Lauwers GY, Masaki Y, Nakanuma Y, Notohara K, Okazaki K, Ryu JK, Saeki T, Sahani DV, Smyrk TC, Stone JR, Takahira M, Webster GJ, Yamamoto M, Zamboni G, Umehara H, Stone JH
Mod Pathol 2012 Sep;25(9):1181-92. Epub 2012 May 18 doi: 10.1038/modpathol.2012.72. PMID: 22596100

Diagnosis

Peyronel F, Fenaroli P, Maritati F, Schleinitz N, Vaglio A
Expert Rev Clin Immunol 2023 May;19(5):537-547. Epub 2023 Apr 6 doi: 10.1080/1744666X.2023.2195627. PMID: 36960748
Lanzillotta M, Mancuso G, Della-Torre E
BMJ 2020 Jun 16;369:m1067. doi: 10.1136/bmj.m1067. PMID: 32546500
Kamisawa T, Zen Y, Pillai S, Stone JH
Lancet 2015 Apr 11;385(9976):1460-71. Epub 2014 Dec 4 doi: 10.1016/S0140-6736(14)60720-0. PMID: 25481618
Deshpande V, Zen Y, Chan JK, Yi EE, Sato Y, Yoshino T, Klöppel G, Heathcote JG, Khosroshahi A, Ferry JA, Aalberse RC, Bloch DB, Brugge WR, Bateman AC, Carruthers MN, Chari ST, Cheuk W, Cornell LD, Fernandez-Del Castillo C, Forcione DG, Hamilos DL, Kamisawa T, Kasashima S, Kawa S, Kawano M, Lauwers GY, Masaki Y, Nakanuma Y, Notohara K, Okazaki K, Ryu JK, Saeki T, Sahani DV, Smyrk TC, Stone JR, Takahira M, Webster GJ, Yamamoto M, Zamboni G, Umehara H, Stone JH
Mod Pathol 2012 Sep;25(9):1181-92. Epub 2012 May 18 doi: 10.1038/modpathol.2012.72. PMID: 22596100
Stone JH, Zen Y, Deshpande V
N Engl J Med 2012 Feb 9;366(6):539-51. doi: 10.1056/NEJMra1104650. PMID: 22316447

Therapy

Peyronel F, Fenaroli P, Maritati F, Schleinitz N, Vaglio A
Expert Rev Clin Immunol 2023 May;19(5):537-547. Epub 2023 Apr 6 doi: 10.1080/1744666X.2023.2195627. PMID: 36960748
Nista EC, De Lucia SS, Manilla V, Schepis T, Pellegrino A, Ojetti V, Pignataro G, Zileri Dal Verme L, Franceschi F, Gasbarrini A, Candelli M
Int J Mol Sci 2022 Oct 21;23(20) doi: 10.3390/ijms232012667. PMID: 36293522Free PMC Article
Katz G, Stone JH
Annu Rev Med 2022 Jan 27;73:545-562. Epub 2021 Oct 20 doi: 10.1146/annurev-med-050219-034449. PMID: 34669430
Lanzillotta M, Mancuso G, Della-Torre E
BMJ 2020 Jun 16;369:m1067. doi: 10.1136/bmj.m1067. PMID: 32546500
Morales AT, Cignarella AG, Jabeen IS, Barkin JS, Mirsaeidi M
Eur J Intern Med 2019 Aug;66:18-24. Epub 2019 Jun 19 doi: 10.1016/j.ejim.2019.06.010. PMID: 31227290

Prognosis

Dik WA, Heron M
Neth J Med 2020 Sep;78(5):220-231. PMID: 33093245
Karadeniz H, Vaglio A
Turk J Med Sci 2020 Nov 3;50(SI-2):1616-1631. doi: 10.3906/sag-2006-375. PMID: 32777900Free PMC Article
Lanzillotta M, Mancuso G, Della-Torre E
BMJ 2020 Jun 16;369:m1067. doi: 10.1136/bmj.m1067. PMID: 32546500
Morales AT, Cignarella AG, Jabeen IS, Barkin JS, Mirsaeidi M
Eur J Intern Med 2019 Aug;66:18-24. Epub 2019 Jun 19 doi: 10.1016/j.ejim.2019.06.010. PMID: 31227290
Kubo K, Yamamoto K
Int J Rheum Dis 2016 Aug;19(8):747-62. Epub 2015 Aug 10 doi: 10.1111/1756-185X.12586. PMID: 26259069

Clinical prediction guides

Abrantes FF, Moraes MPM, Rezende Filho FM, Pedroso JL, Barsottini OGP
Arq Neuropsiquiatr 2020 Dec;78(12):797-804. doi: 10.1590/0004-282X20200073. PMID: 33295420
Dik WA, Heron M
Neth J Med 2020 Sep;78(5):220-231. PMID: 33093245
Lanzillotta M, Mancuso G, Della-Torre E
BMJ 2020 Jun 16;369:m1067. doi: 10.1136/bmj.m1067. PMID: 32546500
Kubo K, Yamamoto K
Int J Rheum Dis 2016 Aug;19(8):747-62. Epub 2015 Aug 10 doi: 10.1111/1756-185X.12586. PMID: 26259069
Mahajan VS, Mattoo H, Deshpande V, Pillai SS, Stone JH
Annu Rev Pathol 2014;9:315-47. Epub 2013 Oct 2 doi: 10.1146/annurev-pathol-012513-104708. PMID: 24111912

Recent systematic reviews

Katerji R, Smoller BR
Clin Dermatol 2021 Mar-Apr;39(2):283-290. Epub 2020 Oct 16 doi: 10.1016/j.clindermatol.2020.10.009. PMID: 34272023
Kaegi C, Wuest B, Schreiner J, Steiner UC, Vultaggio A, Matucci A, Crowley C, Boyman O
Front Immunol 2019;10:1990. Epub 2019 Sep 6 doi: 10.3389/fimmu.2019.01990. PMID: 31555262Free PMC Article
Bennett AE, Fenske NA, Rodriguez-Waitkus P, Messina JL
Int J Dermatol 2016 Nov;55(11):1184-1195. doi: 10.1111/ijd.13369. PMID: 27419384
Karim F, Loeffen J, Bramer W, Westenberg L, Verdijk R, van Hagen M, van Laar J
Pediatr Rheumatol Online J 2016 Mar 25;14(1):18. doi: 10.1186/s12969-016-0079-3. PMID: 27012661Free PMC Article
Charrow A, Imadojemu S, Stephen S, Ogunleye T, Takeshita J, Lipoff JB
J Am Acad Dermatol 2016 Jul;75(1):197-202. Epub 2016 Mar 4 doi: 10.1016/j.jaad.2016.01.046. PMID: 26946983

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