Shunichiro Takezaki

Comparison of clinical practices during the transitional and young adult phases between patients with oligoarticular/polyarticular juvenile idiopathic arthritis and those with rheumatoid arthritis in Japan

Sho Mori, Kosuke Shabana, Toshihiro Matsui, Tomo Nozawa et autres

BACKGROUND: Juvenile idiopathic arthritis (JIA) is a chronic inflammatory condition that frequently persists into adulthood, posing long-term challenges in disease control and quality of life. However, clinical management during the transitional and young adult phases remains insufficiently characterized, especially in comparison with …

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The Safety and Efficacy of Ruxolitinib in an Infant With Familial Hemophagocytic Syndrome Type 3: A Bridging Therapy Toward Hematopoietic Cell Transplantation and Treatment of Post‐Transplant Complications, Including Sinusoidal Obstruction Syndrome

Kazuki Takahashi, Shinsuke Hirabayashi, M. Ueki, Masataka Hasegawa et autres

The authors declare no conflicts of interest. The data that support the findings of this study are available from the corresponding author upon reasonable request.

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Apremilast: a novel intervention for resistant acne conglobata - a case report

Satoko Shimizu, Emi Inamura, Yoko Hirano, Shunichiro Takezaki et autres

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Pyoderma gangrenosum arising at the site of BCG immunization in a nine-month-old girl

Yuka Okura, Yasuyoshi Hiramatsu, Masaki Shimomura, Kota Taniguchi et autres

Pyoderma gangrenosum (PG) is an extremely rare disorder in children. We report a nine-month-old girl with PG who presented with high-grade fever and rapidly progressive ulcers at the site of a Bacillus Calmette-Guérin (BCG) inoculation 2 months after the immunization. Additional small …

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Increased response to granulocyte-macrophage colony-stimulating factor in peripheral blood cells and transient manifestations mimicking juvenile myelomonocytic leukemia in a male patient with NEMO deficiency caused by a deep intronic pathogenic variant of IKBKG

M. Ueki, Shinsuke Hirabayashi, Yoshitaka Honda, Shunichiro Takezaki et autres

X-linked NF-κB essential modulator (NEMO) deficiency is a primary immunodeficiency characterized by combined immunodeficiency and ectodermal dysplasia. Monocytes from the patients demonstrate a severely impaired response to tissue necrosis factor or lipopolysaccharide, whereas hyper-inflammation is found in some patients. Juvenile myelomonocytic leukemia …

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Anti-type 1 interferon receptor subunit 1 monoclonal antibody: Anifrolumab

Shunichiro Takezaki

アニフロルマブは，ヒト抗I型インターフェロン受容体1モノクローナル抗体である．本邦では，全身性エリテマトーデス（systemic lupus erythematosus：SLE）に対して適応が認められている．アニフロルマブは，SLEの病因に対して中心的な役割を担っているI型インターフェロンのシグナル伝達をターゲットとし，I型インターフェロンのシグナル伝達阻害，樹状細胞上のCD80とCD83の発現の減少，B細胞の生存因子の抑制，B細胞分化阻害，T細胞活性化抑制等に関与する．無作為化プラセボ対照試験の結果，アニフロルマブによって疾患活動性反応，グルココルチコイド投与量の減少，皮膚疾患活動性，活動性関節数，治癒率などの臨床的評価項目において改善が示された．EULAR Recommendations for the management of patients with systemic lupus erythematosus―2023 updateでは，アニフロルマブはループス腎炎を発症していないSLEの治療選択の一つと記載されている．本邦においてアニフロルマブは小児適用がなく，成人に適用のある薬剤である．

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A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome

Y. Takeda, M. Ueki, Junpei Matsuhiro, Erik Walinda et autres

OTULIN-related autoinflammatory syndrome (ORAS), a severe autoinflammatory disease, is caused by biallelic pathogenic variants of OTULIN, a linear ubiquitin-specific deubiquitinating enzyme. Loss of OTULIN attenuates linear ubiquitination by inhibiting the linear ubiquitin chain assembly complex (LUBAC). Here, we report a patient who …

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Orofacial Granulomatosis among Pediatric Patients Well Controlled by Corticosteroid Treatment: A Rare Case Series

Taku Kimura, Ken‐ichiro Sakata, Shunichiro Takezaki, Takuya Asaka et autres

Orofacial granulomatosis (OFG) is a rare disease entity characterized by nonnecrotizing granulomatous inflammation in the oral and maxillofacial regions, typically characterized by recurrent or persistent edema, primarily in the lips and occasionally in the gingiva. OFG is often associated with Crohn's disease …

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Severe Congenital Neutropenia-Type 5: Impaired T Cell Proliferation, Aberrant Th1 Cytokine Production, Abnormal Megakaryocytes, and Impaired Platelet Granule Formation in a Patient with VPS45 Deficiency Caused By Uniparental Isodisomy

M. Ueki, Shinsuke Hirabayashi, Daichi Sajiki, Masataka Hasegawa et autres

Introduction VPS45 is essential in early endosome formation with rabenosyn-5 and syntaxin 16. VPS45 deficiency is one of the inborn errors of immunity characterized by severe congenital neutropenia and myelofibrosis. Impaired production and function of neutrophils, increased cell death, and abnormal hematopoiesis …

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In-depth proteomic analysis of juvenile dermatomyositis serum reveals protein expression associated with muscle-specific autoantibodies

Hironori Sato, Yuzaburo Inoue, Yusuke Kawashima, Ryo Konno et autres

OBJECTIVES: The clinical symptoms and complications of JDM differ depending on the type of muscle-specific autoantibodies (MSAs) present. We aimed to identify protein expression profiles specific for MSAs that characterize various clinical features by comprehensively analyzing the proteins present in the serum …

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Rheumatologic manifestations with elevated levels of IL-6, IL-17A, and IL-23 in a patient with scurvy

M. Ueki, Keita Sakamoto, Noriko Nishioka, Hiroki Ohata et autres

Symptomatic vitamin C deficiency, scurvy, is a relatively rare disease in developed countries, but it has been reported in patients with autism spectrum disorder or developmental delay who tend to have selective diets. Patients with scurvy often demonstrate musculoskeletal manifestations with unknown …

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Development of Graves’ disease during drug-free remission of juvenile dermatomyositis

Ichiro Kobayashi, Masaki Shimomura, M. Ueki, Shunichiro Takezaki et autres

We report a Japanese boy with Graves' disease (GD) which developed during drug-free remission of juvenile dermatomyositis (JDM). He had been diagnosed with JDM at the age of 6 years by typical skin rashes, muscle weakness, elevated serum transaminase levels, and typical …

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