A20 Haploinsufficiency in East Asia

A20, encoded by the TNFAIP3 gene, is a negative regulator of tumor necrosis factor (TNF)-nuclear factor-κB signaling. It was recently demonstrated that A20 haploinsufficiency (HA20), caused by a heterozygous mutation in the TNFAIP3 gene, can present as an early onset autoinflammatory disease resembl...

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Autores principales:	Tomonori Kadowaki, Saori Kadowaki, Hidenori Ohnishi
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	autoimmune disease autoinflammatory disease A20 haploinsufficiency East Asia TNFAIP3 Immunologic diseases. Allergy RC581-607
Acceso en línea:	https://doaj.org/article/acdf82df23fb44c18e85750ce761c9a0
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spelling	oai:doaj.org-article:acdf82df23fb44c18e85750ce761c9a02021-12-01T07:44:56ZA20 Haploinsufficiency in East Asia1664-322410.3389/fimmu.2021.780689https://doaj.org/article/acdf82df23fb44c18e85750ce761c9a02021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fimmu.2021.780689/fullhttps://doaj.org/toc/1664-3224A20, encoded by the TNFAIP3 gene, is a negative regulator of tumor necrosis factor (TNF)-nuclear factor-κB signaling. It was recently demonstrated that A20 haploinsufficiency (HA20), caused by a heterozygous mutation in the TNFAIP3 gene, can present as an early onset autoinflammatory disease resembling Behçet’s disease (BD). In addition to autoinflammatory symptoms, HA20 was also reported to be associated with autoimmune diseases and immunodeficiency. Because the phenotypes associated with HA20 are broad, with different severities observed even among individuals in the same family with identical mutations, it has been assumed that the symptoms of HA20 may depend on genetic background and environmental factors. In this review, we summarize the characteristics of patients with HA20 in East Asia and compare these with patients in other regions, mainly the USA and Europe. Patients with HA20 in East Asia developed recurrent fever more frequently than patients in other regions, but were less likely to develop typical BD symptoms such as skin rashes and genital ulcers. In addition, patients with HA20 in East Asia had low rates of complication with autoimmune diseases and low autoantibody detection rates. While anti-TNF-α agents were the primary treatments for severe HA20 in East Asia, anti-interleukin-1 agents and Janus kinase inhibitors were also administered in other regions. Future studies will need to establish methods for analyzing the pathophysiology of HA20 and determining optimal treatment strategies for each patient.Tomonori KadowakiTomonori KadowakiSaori KadowakiHidenori OhnishiHidenori OhnishiFrontiers Media S.A.articleautoimmune diseaseautoinflammatory diseaseA20 haploinsufficiencyEast AsiaTNFAIP3Immunologic diseases. AllergyRC581-607ENFrontiers in Immunology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	autoimmune disease autoinflammatory disease A20 haploinsufficiency East Asia TNFAIP3 Immunologic diseases. Allergy RC581-607
spellingShingle	autoimmune disease autoinflammatory disease A20 haploinsufficiency East Asia TNFAIP3 Immunologic diseases. Allergy RC581-607 Tomonori Kadowaki Tomonori Kadowaki Saori Kadowaki Hidenori Ohnishi Hidenori Ohnishi A20 Haploinsufficiency in East Asia
description	A20, encoded by the TNFAIP3 gene, is a negative regulator of tumor necrosis factor (TNF)-nuclear factor-κB signaling. It was recently demonstrated that A20 haploinsufficiency (HA20), caused by a heterozygous mutation in the TNFAIP3 gene, can present as an early onset autoinflammatory disease resembling Behçet’s disease (BD). In addition to autoinflammatory symptoms, HA20 was also reported to be associated with autoimmune diseases and immunodeficiency. Because the phenotypes associated with HA20 are broad, with different severities observed even among individuals in the same family with identical mutations, it has been assumed that the symptoms of HA20 may depend on genetic background and environmental factors. In this review, we summarize the characteristics of patients with HA20 in East Asia and compare these with patients in other regions, mainly the USA and Europe. Patients with HA20 in East Asia developed recurrent fever more frequently than patients in other regions, but were less likely to develop typical BD symptoms such as skin rashes and genital ulcers. In addition, patients with HA20 in East Asia had low rates of complication with autoimmune diseases and low autoantibody detection rates. While anti-TNF-α agents were the primary treatments for severe HA20 in East Asia, anti-interleukin-1 agents and Janus kinase inhibitors were also administered in other regions. Future studies will need to establish methods for analyzing the pathophysiology of HA20 and determining optimal treatment strategies for each patient.
format	article
author	Tomonori Kadowaki Tomonori Kadowaki Saori Kadowaki Hidenori Ohnishi Hidenori Ohnishi
author_facet	Tomonori Kadowaki Tomonori Kadowaki Saori Kadowaki Hidenori Ohnishi Hidenori Ohnishi
author_sort	Tomonori Kadowaki
title	A20 Haploinsufficiency in East Asia
title_short	A20 Haploinsufficiency in East Asia
title_full	A20 Haploinsufficiency in East Asia
title_fullStr	A20 Haploinsufficiency in East Asia
title_full_unstemmed	A20 Haploinsufficiency in East Asia
title_sort	a20 haploinsufficiency in east asia
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/acdf82df23fb44c18e85750ce761c9a0
work_keys_str_mv	AT tomonorikadowaki a20haploinsufficiencyineastasia AT tomonorikadowaki a20haploinsufficiencyineastasia AT saorikadowaki a20haploinsufficiencyineastasia AT hidenoriohnishi a20haploinsufficiencyineastasia AT hidenoriohnishi a20haploinsufficiencyineastasia
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A20 Haploinsufficiency in East Asia

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