4.7 Letter

Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus

期刊

RHEUMATOLOGY
卷 52, 期 2, 页码 406-408

出版社

OXFORD UNIV PRESS
DOI: 10.1093/rheumatology/kes181

关键词

-

资金

  1. Grants-in-Aid for Scientific Research [24890095, 23249056, 25670474] Funding Source: KAKEN

向作者/读者索取更多资源

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.7
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

Review Rheumatology

Transitioning from paediatric to adult rheumatological healthcare: English summary of the Japanese Transition Support Guide

Masaaki Mori, Shinji Akioka, Toru Igarashi, Yuzaburo Inoue, Hiroaki Umebayashi, Shiro Ohshima, Susumu Nishiyama, Motomu Hashimoto, Toshihiro Matsui, Takako Miyamae, Takahiro Yasumi

Summary: Issues related to transitioning from paediatric to adult healthcare are receiving international attention. In Japan, a guide for supporting transitional care for patients with childhood-onset chronic rheumatological diseases has been proposed. This guide aims to provide essential knowledge to physicians in adult internal medicine and orthopaedics who may be involved in treating patients with rheumatic disease during the transition from paediatric to adult care. The guide includes features of transitional support that are common for patients with various different rheumatic diseases and aims to inform policy and strategies for optimal outcomes in transitional care by non-paediatric rheumatologists.

MODERN RHEUMATOLOGY (2022)

Letter Allergy

Novel AP3B1 mutations in a Hermansky-Pudlak syndrome type2 with neonatal interstitial lung disease

Keigo Matsuyuki, Mizuki Ide, Keishirou Houjou, Saho Shima, Seiji Tanaka, Yoriko Watanabe, Hiroyuki Tomino, Tomoko Egashira, Toshimitsu Takayanagi, Katsuya Tashiro, Ken Okamura, Tamio Suzuki, Takayuki Miyamoto, Hirofumi Shibata, Takahiro Yasumi, Ryuta Nishikomori

PEDIATRIC ALLERGY AND IMMUNOLOGY (2022)

Review Immunology

Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study

Akihiro Hoshino, Etsushi Toyofuku, Noriko Mitsuiki, Motoi Yamashita, Keisuke Okamoto, Michio Yamamoto, Kenji Kanda, Genki Yamato, Dai Keino, Yuri Yoshimoto-Suzuki, Junji Kamizono, Yasuhiro Onoe, Takuya Ichimura, Mika Nagao, Masaru Yoshimura, Koji Tsugawa, Toru Igarashi, Kanako Mitsui-Sekinaka, Yujin Sekinaka, Takehiko Doi, Takahiro Yasumi, Yozo Nakazawa, Masatoshi Takagi, Kohsuke Imai, Shigeaki Nonoyama, Tomohiro Morio, Sylvain Latour, Hirokazu Kanegane

Summary: IKAROS and CTLA4 deficiencies are inborn errors of immunity that share similar clinical phenotypes. However, studies have shown that patients with IKAROS deficiency are more prone to develop autoimmune diseases compared to those with CTLA4 deficiency. A retrospective longitudinal study found that in patients with IKAROS deficiency, autoimmune diseases typically precede hypogammaglobulinemia, while this pattern is not observed in patients with CTLA4 deficiency. Furthermore, the study suggests that B-cell-mediated autoimmune diseases are more common in patients with IKAROS deficiency, whereas T-cell-mediated autoimmune diseases are more prevalent in patients with CTLA4 deficiency.

FRONTIERS IN IMMUNOLOGY (2022)

Article Immunology

Case Report: A Case of Epstein-Barr Virus-Associated Acute Liver Failure Requiring Hematopoietic Cell Transplantation After Emergent Liver Transplantation

Koji Nakajima, Eitaro Hiejima, Hiroshi Nihira, Kentaro Kato, Yoshitaka Honda, Kazushi Izawa, Naoko Kawabata, Itaru Kato, Eri Ogawa, Mari Sonoda, Tatsuya Okamoto, Hideaki Okajima, Takahiro Yasumi, Junko Takita

Summary: This report discusses a pediatric case of EBV-associated acute liver failure that relapsed post-liver transplant. The case highlights the under-recognized clinical entity of liver-restricted hyperinflammation caused by EBV-infected monoclonal CD8+ T cells.

FRONTIERS IN IMMUNOLOGY (2022)

Article Immunology

Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation

Masahiko Nishitani-Isa, Kojiro Mukai, Yoshitaka Honda, Hiroshi Nihira, Takayuki Tanaka, Hirofumi Shibata, Kumi Kodama, Eitaro Hiejima, Kazushi Izawa, Yuri Kawasaki, Mitsujiro Osawa, Yu Katata, Sachiko Onodera, Tatsuya Watanabe, Takashi Uchida, Shigeo Kure, Junko Takita, Osamu Ohara, Megumu K. Saito, Ryuta Nishikomori, Tomohiko Taguchi, Yoji Sasahara, Takahiro Yasumi

Summary: Mutations in the C-terminal region of the CDC42 gene lead to severe neonatal-onset autoinflammation. Abnormal subcellular localization of CDC42 C-terminal variants is a common pathological feature shared with inflammatory phenotypes, and this localization is associated with pyrin inflammasome activation. This study reveals an unexpected association between CDC42 subcellular localization and the mechanism of pyrin inflammasome formation.

JOURNAL OF EXPERIMENTAL MEDICINE (2022)

Review Immunology

Induced Pluripotent Stem Cell-Derived Monocytes/Macrophages in Autoinflammatory Diseases

Takayuki Tanaka, Takeshi Shiba, Yoshitaka Honda, Kazushi Izawa, Takahiro Yasumi, Megumu K. Saito, Ryuta Nishikomori

Summary: The concept of autoinflammation refers to unprovoked episodes of inflammation without production of autoantibodies or autoreactive T cells. Induced pluripotent stem cells (iPSCs) have the potential to model diseases in vitro and be used for drug screening and cell replacement therapy. This review provides an overview of advances in research on autoinflammatory diseases using iPSC-derived monocytes/macrophages.

FRONTIERS IN IMMUNOLOGY (2022)

Letter Gastroenterology & Hepatology

Anti-Integrin αvβ6 Antibody as a Diagnostic Marker for Pediatric Patients With Ulcerative Colitis

Yuya Muramoto, Hiroshi Nihira, Masahiro Shiokawa, Kazushi Izawa, Eitaro Hiejima, Hiroshi Seno

GASTROENTEROLOGY (2022)

Article Immunology

Case Report: A Pediatric Case of Familial Mediterranean Fever Concurrent With Autoimmune Hepatitis

Mariko Aoki, Kazushi Izawa, Takayuki Tanaka, Yoshitaka Honda, Takeshi Shiba, Yukako Maeda, Takayuki Miyamoto, Keisuke Okamoto, Masahiko Nishitani-Isa, Hiroshi Nihira, Kohsuke Imai, Junko Takita, Ryuta Nishikomori, Eitaro Hiejima, Takahiro Yasumi

Summary: This report describes a rare case of Familial Mediterranean fever (FMF) that was diagnosed successfully through whole exome sequencing and functional validation. The patient also had autoimmune hepatitis (AIH), but AIH may be a complication of FMF rather than an independent disease. Colchicine, the standard treatment for FMF, was effective in alleviating symptoms, but ineffective against liver injury.

FRONTIERS IN IMMUNOLOGY (2022)

Article Immunology

Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3

Dan Tomomasa, Eitaro Hiejima, Takayuki Miyamoto, Kay Tanita, Masaki Matsuoka, Daiki Niizato, Noriko Mitsuiki, Takeshi Isoda, Takahiro Yasumi, Menno C. van Zelm, Tomohiro Morio, Hirokazu Kanegane

Summary: Familial hemophagocytic lymphohistiocytosis type 3 is a fatal inborn error of immunity caused by abnormal cytotoxic activity of T and NK cells, resulting from variants in the UNC13D gene. This study reports two cases with the exact same tandem duplication breakpoints in the UNC13D gene, along with other related analyses.

CLINICAL IMMUNOLOGY (2022)

Review Allergy

The dual aspects of IgD in the development of tolerance and the pathogenesis of allergic diseases

Naohiro Itoh, Yusei Ohshima

Summary: The cell-surface form of IgD is co-expressed with IgM on mature B cells and plays a complex role in immune responses, including defense against pathogens and modulation of allergen sensitization. Recent research suggests that the levels of allergen-specific IgD antibodies may affect the process of outgrowing allergies and could be an indicator of low-affinity IgE production. Understanding the mechanisms behind IgD antibody production could contribute to the development of new strategies for allergy management and prevention.

ALLERGOLOGY INTERNATIONAL (2023)

Article Immunology

Monogenic inflammatory bowel disease with STXBP2 mutations is not resolved by hematopoietic stem cell transplantation but can be alleviated via immunosuppressive drug therapy

Hiroki Fujikawa, Hirotaka Shimizu, Ryusuke Nambu, Ichiro Takeuchi, Toshihiro Matsui, Kenichi Sakamoto, Yoshihiro Gocho, Takayuki Miyamoto, Takahiro Yasumi, Takako Yoshioka, Katsuhiro Arai

Summary: A novel STXBP2 mutation was identified in a patient with congenital intractable diarrhea and hemophagocytic lymphohistiocytosis. The patient received various treatments and underwent hematopoietic stem cell transplantation. Colonoscopies before and after transplantation showed mild colitis. The patient continued to have persistent diarrhea after transplantation.

CLINICAL IMMUNOLOGY (2023)

Editorial Material Pediatrics

Ulcerative colitis developed after remission of eosinophilic pneumonia

Motoko Yasutomi, Sachiyo Nitta, Taihei Hayashi, Toshihide Yoshikawa, Tatsushi Naito, Yusei Ohshima

PEDIATRICS INTERNATIONAL (2023)

Article Medicine, Research & Experimental

Branchpoints as potential targets of exon-skipping therapies for genetic disorders

Hiroaki Ohara, Motoyasu Hosokawa, Tomonari Awaya, Atsuko Hagiwara, Ryo Kurosawa, Yukiya Sako, Megumu Ogawa, Masashi Ogasawara, Satoru Noguchi, Yuichi Goto, Ryosuke Takahashi, Ichizo Nishino, Masatoshi Hagiwara

Summary: The FKTN c.647+2084G>T variant causes Fukuyama congenital muscular dystrophy (FCMD) by creating a pseudo-exon. Researchers discovered that the branchpoint, essential for splicing reactions, can be a potential therapeutic target. Through the design of branchpoint-targeted antisense oligonucleotides (BP-AONs), they successfully restored normal FKTN mRNA and protein production in FCMD patient myotubes. This suggests that branchpoints could be potential targets in exon-skipping therapeutic strategies for genetic disorders.

MOLECULAR THERAPY-NUCLEIC ACIDS (2023)

Review Rheumatology

Promoting awareness of terminology related to unmet medical needs in context of rheumatic diseases in Japan: a systematic review for evaluating unmet medical needs

Susumu Yamazaki, Kazushi Izawa, Masakazu Matsushita, Akinori Moriichi, Dai Kishida, Hajime Yoshifuji, Ken Yamaji, Ryuta Nishikomori, Masaaki Mori, Takako Miyamae

Summary: To optimize patient prognosis, the assessment of patient needs, including unmet needs, is important but challenging. In this study, the researchers conducted a literature review to determine the research direction on unmet medical needs in rheumatic diseases in Japan. They identified a total of 949 papers and selected 25 for full-text review. The results showed that health-related quality of life was related to unmet needs in five diseases, but the use of standardized assessment scales varied.

RHEUMATOLOGY INTERNATIONAL (2023)

暂无数据