Frontiers in Immunology (Jan 2022)
Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study
- Akihiro Hoshino,
- Akihiro Hoshino,
- Etsushi Toyofuku,
- 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,
- Sylvain Latour,
- Hirokazu Kanegane
Affiliations
- Akihiro Hoshino
- Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan
- Akihiro Hoshino
- Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, France
- Etsushi Toyofuku
- Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan
- Etsushi Toyofuku
- Graduate School of Medicine and Faculty of Medicine, The University of Tokyo, Tokyo, Japan
- Noriko Mitsuiki
- Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan
- Motoi Yamashita
- Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan
- Keisuke Okamoto
- Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan
- Michio Yamamoto
- Department of Pediatrics, Yokohama Municipal Citizen’s Hospital, Yokohama, Japan
- Kenji Kanda
- Department of Pediatrics, Hikone Municipal Hospital, Hikone, Japan
- Genki Yamato
- Department of Hematology/Oncology, Gunma Children’s Medical Center, Shibukawa, Japan
- Dai Keino
- Division of Hematology/Oncology, Kanagawa Children’s Medical Center, Yokohama, Japan
- Yuri Yoshimoto-Suzuki
- Department of Pediatrics, Center Hospital of the National Center for Global Health and Medicine, Tokyo, Japan
- Junji Kamizono
- Department of Pediatrics, Kitakyushu City Yahata Hospital, Kitakyushu, Japan
- Yasuhiro Onoe
- 0Department of Pediatrics, Kitakyushu Municipal Medical Center, Kitakyushu, Japan
- Takuya Ichimura
- 1Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Ube, Japan
- Mika Nagao
- 2Department of Pediatrics, Ohta Nishinouchi Hospital, Koriyama, Japan
- Masaru Yoshimura
- 3Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan
- Koji Tsugawa
- 4Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
- Toru Igarashi
- 5Department of Pediatrics, Nippon Medical School, Tokyo, Japan
- Kanako Mitsui-Sekinaka
- 6Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan
- Yujin Sekinaka
- 6Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan
- Takehiko Doi
- 7Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Science, Hiroshima, Japan
- Takahiro Yasumi
- 8Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan
- Yozo Nakazawa
- 9Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan
- Masatoshi Takagi
- Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan
- Kohsuke Imai
- 0Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan
- Shigeaki Nonoyama
- 6Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan
- Tomohiro Morio
- Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan
- Sylvain Latour
- Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, France
- Sylvain Latour
- 1Université de Paris, Paris, France
- Hirokazu Kanegane
- 2Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan
- DOI
- https://doi.org/10.3389/fimmu.2021.784901
- Journal volume & issue
-
Vol. 12
Abstract
IKAROS and CTLA4 deficiencies are inborn errors of immunity and show similar clinical phenotypes, including hypogammaglobulinemia and autoimmune diseases (ADs). However, the differences in clinical features and pathogenesis of these are not fully understood. Therefore, we performed systematic literature reviews for IKAROS and CTLA4 deficiencies. The reviews suggested that patients with IKAROS deficiency develop AD earlier than hypogammaglobulinemia. However, no study assessed the detailed changes in clinical manifestations over time; this was likely due to the cross-sectional nature of the studies. Therefore, we conducted a retrospective longitudinal study on IKAROS and CTLA4 deficiencies in our cohort to evaluate the clinical course over time. In patients with IKAROS deficiency, AD and hypogammaglobulinemia often develop in that order, and AD often resolves before the onset of hypogammaglobulinemia; these observations were not found in patients with CTLA4 deficiency. Understanding this difference in the clinical course helps in the clinical management of both. Furthermore, our results suggest B- and T-cell-mediated ADs in patients with IKAROS and CTLA4 deficiencies, respectively.
Keywords
- IKAROS deficiency
- CTLA4 deficiency
- systematic literature review
- retrospective longitudinal study
- clinical course
