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CASE REPORT article

Front. Immunol.
Sec. Autoimmune and Autoinflammatory Disorders: Autoinflammatory Disorders
Volume 15 - 2024 | doi: 10.3389/fimmu.2024.1508307

Case Report: Adult case of A20 haploinsufficiency suspected as neuro-Behçet disease

Provisionally accepted
Harumi Shirai Harumi Shirai 1*Naoko Saito-Sato Naoko Saito-Sato 2Emiko Horiuchi Emiko Horiuchi 3Kikuchi Hirotoshi Kikuchi Hirotoshi 4Saori Kadowaki Saori Kadowaki 5Hidenori Ohnishi Hidenori Ohnishi 6Takeshi Suzuki Takeshi Suzuki 7
  • 1 Department of Rheumataology & Allergology, Japanese Red Cross medical Center, Japanese Red Cross Society, Tokyo, Japan
  • 2 Institute of Medical Genomics, International University of Health and Welfare (IUHW), Otawara, Tochigi, Japan
  • 3 Department of Neurology, Japanese Red Cross medical Center, Japanese Red Cross Society, Tokyo, Japan
  • 4 General Medical education and research Center, Teikyo University, Itabashi, Tōkyō, Japan
  • 5 Department of early diagnosis and Preventive Medicine for Rare Intractable Pediatric disease, Graduate School of Medicine, Gifu University, Gifu, Gifu, Japan
  • 6 Department of Pediatrics, graduate School of Medicine, Gifu University, Gifu, Gifu, Japan
  • 7 Department of Rheumatology & Allergology, Japanese Red Cross medical Center, Japanese Red Cross Society, Tokyo, Japan

The final, formatted version of the article will be published soon.

    Patients with A20 haploinsufficiency (HA20) presenting with central nervous system (CNS) symptoms are rare, and available reports are limited. Here, we describe a patient with HA20, previously followed up as Behçet disease, who presented with CNS symptoms in adulthood. A 38year-old Japanese male who had been followed up for incomplete Behçet disease at another hospital since 28 years of age presented to our hospital with acute-onset diplopia and persistent hiccups that were severe enough to cause vomiting. Despite suspicion of neuro-Behçet disease on the basis of the patient's medical history, a definitive diagnosis could not be made. He experienced transient episodes of diplopia over a short period, and brain magnetic resonance imaging T2 fluid-attenuated inversion recovery images revealed nonspecific hyperintensities in the cerebral white matter. He was initially managed with low-dose prednisolone and colchicine but continued to experience low-grade fever, recurrent oral ulcers, and genital ulcers. A gene panel test for periodic fever syndromes revealed a variant in the TNFAIP3 gene, showing a c.259C>T nonsense variant. As previous reports have described the same variant in patients with HA20, the patient was diagnosed with HA20. The patient's response to glucocorticoids and colchicine therapy was limited, and his symptoms improved upon initiation of tumor necrosis factor-α inhibitor therapy. The variant showing a c.259C>T

    Keywords: Neuro-Behçet disease, A20 haploinsufficiency, Diplopia, TNFAIP3, Variant functional analysis

    Received: 09 Oct 2024; Accepted: 13 Dec 2024.

    Copyright: © 2024 Shirai, Saito-Sato, Horiuchi, Hirotoshi, Kadowaki, Ohnishi and Suzuki. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Harumi Shirai, Department of Rheumataology & Allergology, Japanese Red Cross medical Center, Japanese Red Cross Society, Tokyo, Japan

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