Research & Literature

The supportive care needs of parents with a child with a rare disease: results of an online survey.

Pelentsov LJ, Fielder AL, Laws TA, Esterman AJ

BMC family practice 2016; (17()):88 doi:10.1186/s12875-016-0488-x.

A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease.

Aeschlimann FA, Batu ED, Canna SW, et al.

Annals of the rheumatic diseases 2018; (77(5)):728-735 doi:10.1136/annrheumdis-2017-212403.

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.

Franco-Jarava C, Wang H, Martin-Nalda A, et al.

Clinical immunology (Orlando, Fla.) 2018; (191()):44-51 doi:10.1016/j.clim.2018.03.009.

Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature.

Berteau F, Rouviere B, Delluc A, et al.

Autoimmunity reviews 2018; (17(8)):809-815 doi:10.1016/j.autrev.2018.02.012.

A Case of Adult-Onset Still's Disease Caused by a Novel Splicing Mutation in TNFAIP3 Successfully Treated With Tocilizumab.

Lawless D, Pathak S, Scambler TE, et al.

Frontiers in immunology 2018; (9()):1527 doi:10.3389/fimmu.2018.01527.

Haploinsufficiency of A20 impairs protein-protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation.

Rajamäki K, Keskitalo S, Seppänen M, et al.

RMD open 2018; (4(2)):e000740 doi:10.1136/rmdopen-2018-000740.

Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease.

Tsuchida N, Kirino Y, Soejima Y, et al.

Arthritis research & therapy 2019; (21(1)):137 doi:10.1186/s13075-019-1928-5.

Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report.

Li GM, Liu HM, Guan WZ, et al.

BMC medical genetics 2019; (20(1)):124 doi:10.1186/s12881-019-0856-1.

Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment.

Yu MP, Xu XS, Zhou Q, et al.

World journal of pediatrics : WJP 2020; (16(6)):575-584 doi:10.1007/s12519-019-00288-6.

[A report of clinical characteristics of 2 Chinese pedigrees with haploinsufficiency of A20 and literature review].

Zhong LQ, Wang W, Wang L, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2019; (57(12)):922-927 doi:10.3760/cma.j.issn.0578-1310.2019.12.006.

A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment.

Hautala T, Vähäsalo P, Kuismin O, et al.

Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2021; (27(8)):e583-e587 doi:10.1097/RHU.0000000000001268.

Haploinsufficiency of A20 with a novel mutation of deletion of exons 2-3 of TNFAIP3.

Shimizu M, Matsubayashi T, Ohnishi H, et al.

Modern rheumatology 2021; (31(2)):493-497 doi:10.1080/14397595.2020.1719595.

Influence of schooling on the health-related quality of life of children with rare diseases.

Paz-Lourido B, Negre F, de la Iglesia B, Verger S

Health and quality of life outcomes 2020; (18(1)):109 doi:10.1186/s12955-020-01351-x.

Haploinsufficiency of A20 Due to Novel Mutations in TNFAIP3.

He T, Huang Y, Luo Y, et al.

Journal of clinical immunology 2020; (40(5)):741-751 doi:10.1007/s10875-020-00792-9.

The First Case of an Infant with Familial A20 Haploinsufficiency in Korea.

Kim HY, Song JY, Kim WI, et al.

Journal of Korean medical science 2020; (35(30)):e252 doi:10.3346/jkms.2020.35.e252.

Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation.

Boettcher J, Denecke J, Barkmann C, Wiegand-Grefe S

International journal of environmental research and public health 2020; (17(23)) doi:10.3390/ijerph17238975.

Functional analysis of novel A20 variants in patients with atypical inflammatory diseases.

Kadowaki S, Hashimoto K, Nishimura T, et al.

Arthritis research & therapy 2021; (23(1)):52 doi:10.1186/s13075-021-02434-w.

Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood.

Welzel T, Benseler SM, Kuemmerle-Deschner JB

Frontiers in immunology 2021; (12()):516427 doi:10.3389/fimmu.2021.516427.

Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency.

Deshayes S, Bazille C, El Khouri E, et al.

Liver international : official journal of the International Association for the Study of the Liver 2021; (41(8)):1894-1900 doi:10.1111/liv.14935.

Mutation analysis of the TNFAIP3 in A20 haploinsufficiency: A case report.

Yan M, Li D, Aknai S, et al.

Medicine 2021; (100(20)):e25954 doi:10.1097/MD.0000000000025954.

Being the Pillar for Children with Rare Diseases-A Systematic Review on Parental Quality of Life.

Boettcher J, Boettcher M, Wiegand-Grefe S, Zapf H

International journal of environmental research and public health 2021; (18(9)) doi:10.3390/ijerph18094993.

Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.

Di Donato G, d'Angelo DM, Breda L, Chiarelli F

International journal of molecular sciences 2021; (22(12)) doi:10.3390/ijms22126360.

Ocular involvement in monogenic autoinflammatory disease.

Maccora I, Marrani E, Mastrolia MV, et al.

Autoimmunity reviews 2021; (20(11)):102944 doi:10.1016/j.autrev.2021.102944.

Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

Garcia B, Catasus N, Ros A, et al.

Journal of medical genetics 2022; (59(10)):1017-1023 doi:10.1136/jmedgenet-2021-108301.

Identification of a Novel Mutation in TNFAIP3 in a Family With Poly-Autoimmunity.

Rossi MN, Federici S, Uva A, et al.

Frontiers in immunology 2022; (13()):804401 doi:10.3389/fimmu.2022.804401.

Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases.

Smits RM, Vissers E, Te Pas R, et al.

Orphanet journal of rare diseases 2022; (17(1)):153 doi:10.1186/s13023-022-02305-w.

The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases.

Zinterl C, Costa-Reis P, Esteves IC, et al.

Journal of multidisciplinary healthcare 2022; (15()):999-1010 doi:10.2147/JMDH.S351546.

Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.

Kingdom R, Wright CF

Frontiers in genetics 2022; (13()):920390 doi:10.3389/fgene.2022.920390.

TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases.

Aslani N, Asnaashari K, Parvaneh N, et al.

Pediatric rheumatology online journal 2022; (20(1)):78 doi:10.1186/s12969-022-00735-1.

Novel loss-of-function mutations in TNFAIP3 gene in patients with lupus nephritis.

Zhang C, Han X, Sun L, et al.

Clinical kidney journal 2022; (15(11)):2027-2038 doi:10.1093/ckj/sfac130.

Empiric treatment for persistent fever from suspected autoinflammatory disease: Experience from an undiagnosed diseases program.

Shen JZ, Callaway K, Korf B, et al.

The American journal of the medical sciences 2023; (366(1)):71-75 doi:10.1016/j.amjms.2023.04.008.

What matters to parents? A scoping review of parents' service experiences and needs regarding genetic testing for rare diseases.

Crellin E, Martyn M, McClaren B, Gaff C

European journal of human genetics : EJHG 2023; (31(8)):869-878 doi:10.1038/s41431-023-01376-y.

Case Report: A novel mutation in TNFAIP3 in a patient with type 1 diabetes mellitus and haploinsufficiency of A20.

Cao C, Fu X, Wang X

Frontiers in endocrinology 2023; (14()):1131437 doi:10.3389/fendo.2023.1131437.

A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.

El Khouri E, Diab F, Louvrier C, et al.

eLife 2023; (12()).

Genetic testing of Behçet's disease using next-generation sequencing to identify monogenic mimics and HLA-B*51.

Burleigh A, Omoyinmi E, Papadopoulou C, et al.

Rheumatology (Oxford, England) 2024; (63(12)):3457-3470 doi:10.1093/rheumatology/kead628.

Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases.

Domaradzki J, Walkowiak D

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (48()):78-84 doi:10.1016/j.ejpn.2023.12.003.

A case of A20 haploinsufficiency complicated by autoimmune hepatitis.

Iwasa T, Miwa T, Unome S, et al.

Hepatology research : the official journal of the Japan Society of Hepatology 2024; (54(6)):606-611 doi:10.1111/hepr.14003.

A20 haploinsufficiency in a neonate caused by a large deletion on chromosome 6q.

Zhang F, Zhang L

Pediatric rheumatology online journal 2024; (22(1)):12 doi:10.1186/s12969-023-00947-z.

The Complexity of Being A20: From Biological Functions to Genetic Associations.

Karri U, Harasimowicz M, Carpio Tumba M, Schwartz DM

Journal of clinical immunology 2024; (44(3)):76 doi:10.1007/s10875-024-01681-1.

A20 haploinsufficiency disturbs immune homeostasis and drives the transformation of lymphocytes with permissive antigen receptors.

Schultheiß C, Paschold L, Mohebiany AN, et al.

Science advances 2024; (10(34)):eadl3975 doi:10.1126/sciadv.adl3975.

A20 haploinsufficiency diagnosis beyond systemic lupus erythematosus: A systematic review of the literature.

Philip R, Elhani I, Gallou S, et al.

Autoimmunity reviews 2025; (24(2)):103722 doi:10.1016/j.autrev.2024.103722.

Phenotypic Variability of Cowden Syndrome Within a Single Family: Impact on Diagnosis, Management and Genetic Counselling.

Ilic N, Mitrovic N, Radeta R, et al.

Balkan journal of medical genetics : BJMG 2024; (27(2)):95-100 doi:10.2478/bjmg-2024-0016.

Clinical characteristics and treatment strategies for A20 haploinsufficiency in Japan: a national epidemiological survey.

Shiraki M, Kadowaki S, Miwa Y, et al.

Frontiers in immunology 2025; (16()):1548042 doi:10.3389/fimmu.2025.1548042.

Case Report: Exploring the spectrum of A20 haploinsufficiency in children.

Jayaraman S, Balmuri N

Frontiers in pediatrics 2025; (13()):1624715 doi:10.3389/fped.2025.1624715.

Clinical features and genetic analysis of A20 haploinsufficiency.

Xue F, An C, Lei Z, et al.

Orphanet journal of rare diseases 2025; (20(1)):457 doi:10.1186/s13023-025-04004-8.

Multicenter international cohort study of haploinsufficiency of A20 reveals novel genetic architecture and phenotypic evolution.

He T, Wang J, Carpio Tumba M, et al.

The Journal of allergy and clinical immunology 2026; (157(6)):1395-1410 doi:10.1016/j.jaci.2026.02.002.

Tackling the diagnosis of HA20 in children: challenges of a highly variable clinical and genetic spectrum.

Anselmi F, Frémond ML, Remaux H, et al.

RMD open 2026; (12(1)) doi:10.1136/rmdopen-2025-006379.

Five children with haploinsufficiency of A20 caused by heterozygous mutations in the TNFAIP3 gene.

Yao H, Liu Y, Dong M, et al.

Frontiers in immunology 2026; (17()):1738656 doi:10.3389/fimmu.2026.1738656.

[Haploinsufficiency of A20 in a family caused by a heterozygous deletion in the TNFAIP3 gene].

Yi C, Xiao J

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2026; (55(4)):332-337 doi:10.3724/zdxbyxb-2025-0545.

Case Report: A case of haploinsufficiency of A20 in a newborn with abnormal liver enzymes at disease onset.

Yu Y, Zeng S

Frontiers in pediatrics 2026; (14()):1697285 doi:10.3389/fped.2026.1697285.

Functional changes in the gut microbiota are associated with the intestinal phenotype in A20 haploinsufficiency.

Elhani I, Bredon M, Enea D, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2026; (37(4)):e70343 doi:10.1111/pai.70343.

How I Treat: Haploinsufficiency of A20.

Li J, Zhou JY, Carpio Tumba M, et al.

Journal of human immunity 2026; (2(4)):e20250138 doi:10.70962/jhi.20250138.

Autosomal recessive A20 zinc finger 7 mutation is associated with early-onset lupus-like disease.

Alsabbagh M, Hubrack SZ, Gamgoum L, et al.

Inflammation research : official journal of the European Histamine Research Society ... [et al.] 2026; (75(1)).

Infantile Onset Haploinsufficiency of A20 Treated by Infliximab, a Case Report and Brief Review of Literature.

Salehzadeh F, Babazadeh Khoei F

International medical case reports journal 2026; (19()):587900 doi:10.2147/IMCRJ.S587900.