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Autoimmune disease, susceptibility to, 1(AIS1; VAMAS2)

MedGen UID:
335848
Concept ID:
C1842979
Finding
Synonyms: Autoimmune disease 1; AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED; VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 2
 
Gene (location): FOXD3 (1p31.3)
 
Monarch Initiative: MONDO:0011919
OMIM®: 607836

Definition

Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene. [from MONDO]

Clinical features

From HPO
Hashimoto thyroiditis
MedGen UID:
151769
Concept ID:
C0677607
Disease or Syndrome
Hashimoto thyroiditis (HT) is a chronic autoimmune thyroiditis characterized by diffuse lymphocytic infiltration, thyroid follicles of reduced size containing sparse colloid, and fibrosis replacing the thyroid parenchyma (summary by Klintschar et al., 2001).
Vitiligo
MedGen UID:
22677
Concept ID:
C0042900
Disease or Syndrome
Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.

Professional guidelines

PubMed

Demirci Yildirim T, Sari İ
Rheumatol Int 2024 Nov;44(11):2301-2313. Epub 2023 Oct 27 doi: 10.1007/s00296-023-05491-3. PMID: 37889264
Machado MV
Int J Mol Sci 2023 Jan 4;24(2) doi: 10.3390/ijms24020945. PMID: 36674460Free PMC Article
Klubo-Gwiezdzinska J, Wartofsky L
Pol Arch Intern Med 2022 Mar 30;132(3) Epub 2022 Mar 3 doi: 10.20452/pamw.16222. PMID: 35243857Free PMC Article

Recent clinical studies

Etiology

Zingone F, Bai JC, Cellier C, Ludvigsson JF
Gastroenterology 2024 Jun;167(1):64-78. Epub 2024 Mar 7 doi: 10.1053/j.gastro.2024.02.044. PMID: 38460606
Yazar S, Alquicira-Hernandez J, Wing K, Senabouth A, Gordon MG, Andersen S, Lu Q, Rowson A, Taylor TRP, Clarke L, Maccora K, Chen C, Cook AL, Ye CJ, Fairfax KA, Hewitt AW, Powell JE
Science 2022 Apr 8;376(6589):eabf3041. doi: 10.1126/science.abf3041. PMID: 35389779
Garbarino S, Lanteri P, Bragazzi NL, Magnavita N, Scoditti E
Commun Biol 2021 Nov 18;4(1):1304. doi: 10.1038/s42003-021-02825-4. PMID: 34795404Free PMC Article
Fernández Miró M, Colom Comí C, Godoy Lorenzo R
Med Clin (Barc) 2021 Sep 10;157(5):241-246. Epub 2021 May 3 doi: 10.1016/j.medcli.2021.02.004. PMID: 33958142
Orrù V, Steri M, Sidore C, Marongiu M, Serra V, Olla S, Sole G, Lai S, Dei M, Mulas A, Virdis F, Piras MG, Lobina M, Marongiu M, Pitzalis M, Deidda F, Loizedda A, Onano S, Zoledziewska M, Sawcer S, Devoto M, Gorospe M, Abecasis GR, Floris M, Pala M, Schlessinger D, Fiorillo E, Cucca F
Nat Genet 2020 Oct;52(10):1036-1045. Epub 2020 Sep 14 doi: 10.1038/s41588-020-0684-4. PMID: 32929287Free PMC Article

Diagnosis

Zingone F, Bai JC, Cellier C, Ludvigsson JF
Gastroenterology 2024 Jun;167(1):64-78. Epub 2024 Mar 7 doi: 10.1053/j.gastro.2024.02.044. PMID: 38460606
Clauw D, Sarzi-Puttini P, Pellegrino G, Shoenfeld Y
Autoimmun Rev 2024 Jan;23(1):103424. Epub 2023 Aug 25 doi: 10.1016/j.autrev.2023.103424. PMID: 37634681
Primavera M, Giannini C, Chiarelli F
Front Endocrinol (Lausanne) 2020;11:248. Epub 2020 Jun 2 doi: 10.3389/fendo.2020.00248. PMID: 32670194Free PMC Article
Kahaly GJ, Frommer L
J Endocrinol Invest 2018 Jan;41(1):91-98. Epub 2017 Aug 17 doi: 10.1007/s40618-017-0740-9. PMID: 28819917
van Belle TL, Coppieters KT, von Herrath MG
Physiol Rev 2011 Jan;91(1):79-118. doi: 10.1152/physrev.00003.2010. PMID: 21248163

Therapy

Wei Q, Wang Z, Liu X, Liang H, Chen L
Genes (Basel) 2023 Sep 23;14(10) doi: 10.3390/genes14101844. PMID: 37895193Free PMC Article
Yuan S, Merino J, Larsson SC
Diabetologia 2023 May;66(5):800-812. Epub 2023 Feb 14 doi: 10.1007/s00125-023-05879-7. PMID: 36786839Free PMC Article
Yazar S, Alquicira-Hernandez J, Wing K, Senabouth A, Gordon MG, Andersen S, Lu Q, Rowson A, Taylor TRP, Clarke L, Maccora K, Chen C, Cook AL, Ye CJ, Fairfax KA, Hewitt AW, Powell JE
Science 2022 Apr 8;376(6589):eabf3041. doi: 10.1126/science.abf3041. PMID: 35389779
van Belle TL, Coppieters KT, von Herrath MG
Physiol Rev 2011 Jan;91(1):79-118. doi: 10.1152/physrev.00003.2010. PMID: 21248163
Atkinson MA, Eisenbarth GS
Lancet 2001 Jul 21;358(9277):221-9. doi: 10.1016/S0140-6736(01)05415-0. PMID: 11476858

Prognosis

Zajec A, Trebušak Podkrajšek K, Tesovnik T, Šket R, Čugalj Kern B, Jenko Bizjan B, Šmigoc Schweiger D, Battelino T, Kovač J
Genes (Basel) 2022 Apr 16;13(4) doi: 10.3390/genes13040706. PMID: 35456512Free PMC Article
Fernández Miró M, Colom Comí C, Godoy Lorenzo R
Med Clin (Barc) 2021 Sep 10;157(5):241-246. Epub 2021 May 3 doi: 10.1016/j.medcli.2021.02.004. PMID: 33958142
Bubuioc AM, Kudebayeva A, Turuspekova S, Lisnic V, Leone MA
J Med Life 2021 Jan-Mar;14(1):7-16. doi: 10.25122/jml-2020-0145. PMID: 33767779Free PMC Article
Primavera M, Giannini C, Chiarelli F
Front Endocrinol (Lausanne) 2020;11:248. Epub 2020 Jun 2 doi: 10.3389/fendo.2020.00248. PMID: 32670194Free PMC Article
Atkinson MA, Eisenbarth GS
Lancet 2001 Jul 21;358(9277):221-9. doi: 10.1016/S0140-6736(01)05415-0. PMID: 11476858

Clinical prediction guides

Chen L, Wu B, Mo L, Chen H, Zhao Y, Tan T, Chen L, Li Y, Yao P, Tang Y
Lancet Healthy Longev 2024 Jan;5(1):e45-e55. Epub 2023 Dec 8 doi: 10.1016/S2666-7568(23)00220-9. PMID: 38081205
Frazzei G, van Vollenhoven RF, de Jong BA, Siegelaar SE, van Schaardenburg D
Front Immunol 2022;13:899372. Epub 2022 Jun 30 doi: 10.3389/fimmu.2022.899372. PMID: 35844538Free PMC Article
Zajec A, Trebušak Podkrajšek K, Tesovnik T, Šket R, Čugalj Kern B, Jenko Bizjan B, Šmigoc Schweiger D, Battelino T, Kovač J
Genes (Basel) 2022 Apr 16;13(4) doi: 10.3390/genes13040706. PMID: 35456512Free PMC Article
Fernández Miró M, Colom Comí C, Godoy Lorenzo R
Med Clin (Barc) 2021 Sep 10;157(5):241-246. Epub 2021 May 3 doi: 10.1016/j.medcli.2021.02.004. PMID: 33958142
Primavera M, Giannini C, Chiarelli F
Front Endocrinol (Lausanne) 2020;11:248. Epub 2020 Jun 2 doi: 10.3389/fendo.2020.00248. PMID: 32670194Free PMC Article

Recent systematic reviews

Wimalawansa SJ
Nutrients 2023 Sep 2;15(17) doi: 10.3390/nu15173842. PMID: 37686873Free PMC Article
Liu YR, Wang JQ, Li J
Front Immunol 2023;14:1137822. Epub 2023 Mar 27 doi: 10.3389/fimmu.2023.1137822. PMID: 37051231Free PMC Article
Esimekara JO, Perez A, Courvoisier DS, Scolozzi P
J Stomatol Oral Maxillofac Surg 2022 Oct;123(5):e464-e473. Epub 2022 Jan 13 doi: 10.1016/j.jormas.2022.01.005. PMID: 35033725
de Filette JMK, Pen JJ, Decoster L, Vissers T, Bravenboer B, Van der Auwera BJ, Gorus FK, Roep BO, Aspeslagh S, Neyns B, Velkeniers B, Kharagjitsingh AV
Eur J Endocrinol 2019 Sep;181(3):363-374. doi: 10.1530/EJE-19-0291. PMID: 31330498Free PMC Article
Derry S, Wiffen PJ, Kalso EA, Bell RF, Aldington D, Phillips T, Gaskell H, Moore RA
Cochrane Database Syst Rev 2017 May 12;5(5):CD008609. doi: 10.1002/14651858.CD008609.pub2. PMID: 28497473Free PMC Article

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