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A20 haploinsufficiency

MedGen UID:
1845429
Concept ID:
C5849639
Disease or Syndrome
Synonyms: HA20; HA20 (haploinsufficiency A20); Haploinsufficiency of A20
SNOMED CT: Haploinsufficiency of A20 (1290916005); HA20 (haploinsufficiency A20) (1290916005); A20 haploinsufficiency (1290916005)
 
Monarch Initiative: MONDO:0100222

Definition

Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene. [from MONDO]

Professional guidelines

PubMed

Burleigh A, Omoyinmi E, Papadopoulou C, Al-Abadi E, Hong Y, Price-Kuehne F, Moraitis E, Titheradge H, Montesi F, Xu D, Eleftheriou D, Brogan P
Rheumatology (Oxford) 2024 Dec 1;63(12):3457-3470. doi: 10.1093/rheumatology/kead628. PMID: 38006337Free PMC Article
Yu MP, Xu XS, Zhou Q, Deuitch N, Lu MP
World J Pediatr 2020 Dec;16(6):575-584. Epub 2019 Oct 5 doi: 10.1007/s12519-019-00288-6. PMID: 31587140
Aksentijevich I, McDermott MF
Curr Opin Rheumatol 2017 Mar;29(2):187-194. doi: 10.1097/BOR.0000000000000362. PMID: 27906774Free PMC Article

Recent clinical studies

Etiology

Lv Q, Li Y, Wei Q, Xiang T, Guan W, Gong Y, Zeng Q, Zhang X, Wang Y, Shi Y, Liu H, Xu H, Sun L
Clin Exp Rheumatol 2024 Oct;42(10):2076-2085. Epub 2024 Oct 2 doi: 10.55563/clinexprheumatol/g6729b. PMID: 39360366
Miyamoto T, Honda Y, Izawa K, Kanazawa N, Kadowaki S, Ohnishi H, Fujimoto M, Kambe N, Kase N, Shiba T, Nakagishi Y, Akizuki S, Murakami K, Bamba M, Nishida Y, Inui A, Fujisawa T, Nishida D, Iwata N, Otsubo Y, Ishimori S, Nishikori M, Tanizawa K, Nakamura T, Ueda T, Ohwada Y, Tsuyusaki Y, Shimizu M, Ebato T, Iwao K, Kubo A, Kawai T, Matsubayashi T, Miyazaki T, Kanayama T, Nishitani-Isa M, Nihira H, Abe J, Tanaka T, Hiejima E, Okada S, Ohara O, Saito MK, Takita J, Nishikomori R, Yasumi T
Front Immunol 2022;13:905960. Epub 2022 Sep 23 doi: 10.3389/fimmu.2022.905960. PMID: 36211342Free PMC Article
Kadowaki T, Ohnishi H, Kawamoto N, Kadowaki S, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Hiejima E, Izawa K, Matsubayashi T, Matsumoto K, Imai K, Nishikomori R, Ito S, Kanegane H, Fukao T
Clin Immunol 2020 Jul;216:108441. Epub 2020 Apr 23 doi: 10.1016/j.clim.2020.108441. PMID: 32335289
Kacar M, Pathak S, Savic S
Rheumatology (Oxford) 2019 Nov 1;58(Suppl 6):vi31-vi43. doi: 10.1093/rheumatology/kez448. PMID: 31769858Free PMC Article
Moll HP, Lee A, Peterson CR, Revuelta Cervantes J, Wojcik BM, Parulkar A, Mele A, LoGerfo PJ, Siracuse JJ, Csizmadia E, da Silva CG, Ferran C
Transplantation 2016 Nov;100(11):e106-e116. doi: 10.1097/TP.0000000000001407. PMID: 27495763Free PMC Article

Diagnosis

Bagyinszky E, An SSA
Int J Mol Sci 2024 Jul 29;25(15) doi: 10.3390/ijms25158275. PMID: 39125844Free PMC Article
Elhani I, Riller Q, Boursier G, Hentgen V, Rieux-Laucat F, Georgin-Lavialle S
J Invest Dermatol 2024 Jun;144(6):1282-1294.e8. Epub 2023 Dec 19 doi: 10.1016/j.jid.2023.12.007. PMID: 38128752
Migita K, Fujita Y, Asano T, Sato S
Intern Med 2023;62(1):43-50. Epub 2023 Jan 1 doi: 10.2169/internalmedicine.09279-21. PMID: 36596474Free PMC Article
Kadowaki T, Ohnishi H, Kawamoto N, Kadowaki S, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Hiejima E, Izawa K, Matsubayashi T, Matsumoto K, Imai K, Nishikomori R, Ito S, Kanegane H, Fukao T
Clin Immunol 2020 Jul;216:108441. Epub 2020 Apr 23 doi: 10.1016/j.clim.2020.108441. PMID: 32335289
Kacar M, Pathak S, Savic S
Rheumatology (Oxford) 2019 Nov 1;58(Suppl 6):vi31-vi43. doi: 10.1093/rheumatology/kez448. PMID: 31769858Free PMC Article

Therapy

Zhang C, Yu Z, Gao S, Ma M, Gou L, Wang C, Wang L, Li J, Zhong L, Zhou Y, Wang W, Song H
Pediatr Rheumatol Online J 2023 Oct 17;21(1):124. doi: 10.1186/s12969-023-00881-0. PMID: 37848905Free PMC Article
Su G, Lai J, Zhu J, Zhang D, Hou J, Xu Y, Zhou Z
Inflamm Res 2021 Dec;70(10-12):1211-1216. Epub 2021 Sep 24 doi: 10.1007/s00011-021-01479-6. PMID: 34559261
Zhang D, Su G, Zhou Z, Lai J
Pediatr Rheumatol Online J 2021 May 24;19(1):75. doi: 10.1186/s12969-021-00558-6. PMID: 34030699Free PMC Article
Yan M, Li D, Aknai S, Zhu H, Abudureyim M
Medicine (Baltimore) 2021 May 21;100(20):e25954. doi: 10.1097/MD.0000000000025954. PMID: 34011076Free PMC Article
Aeschlimann FA, Batu ED, Canna SW, Go E, Gül A, Hoffmann P, Leavis HL, Ozen S, Schwartz DM, Stone DL, van Royen-Kerkof A, Kastner DL, Aksentijevich I, Laxer RM
Ann Rheum Dis 2018 May;77(5):728-735. Epub 2018 Jan 9 doi: 10.1136/annrheumdis-2017-212403. PMID: 29317407

Prognosis

Lv Q, Li Y, Wei Q, Xiang T, Guan W, Gong Y, Zeng Q, Zhang X, Wang Y, Shi Y, Liu H, Xu H, Sun L
Clin Exp Rheumatol 2024 Oct;42(10):2076-2085. Epub 2024 Oct 2 doi: 10.55563/clinexprheumatol/g6729b. PMID: 39360366
El Khouri E, Diab F, Louvrier C, Assrawi E, Daskalopoulou A, Nguyen A, Piterboth W, Deshayes S, Desdoits A, Copin B, Dastot Le Moal F, Karabina SA, Amselem S, Aouba A, Giurgea I
Elife 2023 Jun 21;12 doi: 10.7554/eLife.81280. PMID: 37342083Free PMC Article
Kacar M, Pathak S, Savic S
Rheumatology (Oxford) 2019 Nov 1;58(Suppl 6):vi31-vi43. doi: 10.1093/rheumatology/kez448. PMID: 31769858Free PMC Article
Aeschlimann FA, Batu ED, Canna SW, Go E, Gül A, Hoffmann P, Leavis HL, Ozen S, Schwartz DM, Stone DL, van Royen-Kerkof A, Kastner DL, Aksentijevich I, Laxer RM
Ann Rheum Dis 2018 May;77(5):728-735. Epub 2018 Jan 9 doi: 10.1136/annrheumdis-2017-212403. PMID: 29317407

Clinical prediction guides

Lv Q, Li Y, Wei Q, Xiang T, Guan W, Gong Y, Zeng Q, Zhang X, Wang Y, Shi Y, Liu H, Xu H, Sun L
Clin Exp Rheumatol 2024 Oct;42(10):2076-2085. Epub 2024 Oct 2 doi: 10.55563/clinexprheumatol/g6729b. PMID: 39360366
Zhang C, Yu Z, Gao S, Ma M, Gou L, Wang C, Wang L, Li J, Zhong L, Zhou Y, Wang W, Song H
Pediatr Rheumatol Online J 2023 Oct 17;21(1):124. doi: 10.1186/s12969-023-00881-0. PMID: 37848905Free PMC Article
El Khouri E, Diab F, Louvrier C, Assrawi E, Daskalopoulou A, Nguyen A, Piterboth W, Deshayes S, Desdoits A, Copin B, Dastot Le Moal F, Karabina SA, Amselem S, Aouba A, Giurgea I
Elife 2023 Jun 21;12 doi: 10.7554/eLife.81280. PMID: 37342083Free PMC Article
Miyamoto T, Honda Y, Izawa K, Kanazawa N, Kadowaki S, Ohnishi H, Fujimoto M, Kambe N, Kase N, Shiba T, Nakagishi Y, Akizuki S, Murakami K, Bamba M, Nishida Y, Inui A, Fujisawa T, Nishida D, Iwata N, Otsubo Y, Ishimori S, Nishikori M, Tanizawa K, Nakamura T, Ueda T, Ohwada Y, Tsuyusaki Y, Shimizu M, Ebato T, Iwao K, Kubo A, Kawai T, Matsubayashi T, Miyazaki T, Kanayama T, Nishitani-Isa M, Nihira H, Abe J, Tanaka T, Hiejima E, Okada S, Ohara O, Saito MK, Takita J, Nishikomori R, Yasumi T
Front Immunol 2022;13:905960. Epub 2022 Sep 23 doi: 10.3389/fimmu.2022.905960. PMID: 36211342Free PMC Article
Kadowaki T, Kadowaki S, Ohnishi H
Front Immunol 2021;12:780689. Epub 2021 Nov 26 doi: 10.3389/fimmu.2021.780689. PMID: 34899744Free PMC Article

Recent systematic reviews

Philip R, Elhani I, Gallou S, Boysson H, Martin Silva N, Georgin-Lavialle S, Deshayes S, Aouba A
Autoimmun Rev 2025 Jan 31;24(2):103722. Epub 2024 Dec 11 doi: 10.1016/j.autrev.2024.103722. PMID: 39672252
Elhani I, Riller Q, Boursier G, Hentgen V, Rieux-Laucat F, Georgin-Lavialle S
J Invest Dermatol 2024 Jun;144(6):1282-1294.e8. Epub 2023 Dec 19 doi: 10.1016/j.jid.2023.12.007. PMID: 38128752
Tian Y, Wu B, Peng L, Wang J, Shen M
Front Immunol 2022;13:955079. Epub 2022 Jul 26 doi: 10.3389/fimmu.2022.955079. PMID: 35958611Free PMC Article

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