Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

113 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Fever of unknown origin with rashes in early infancy is indicative of adenosine deaminase type 2 deficiency.
Nihira H, Nakagawa K, Izawa K, Kawai T, Yasumi T, Nishikomori R, Nambu M, Miyagawa-Hayashino A, Nomura T, Kabashima K, Ito M, Iwaki-Egawa S, Sasahara Y, Nakayama M, Heike T. Nihira H, et al. Scand J Rheumatol. 2018 Mar;47(2):170-172. doi: 10.1080/03009742.2017.1324912. Epub 2017 Jun 30. Scand J Rheumatol. 2018. PMID: 28665179 No abstract available.
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.
Boisson B, Honda Y, Ajiro M, Bustamante J, Bendavid M, Gennery AR, Kawasaki Y, Ichishima J, Osawa M, Nihira H, Shiba T, Tanaka T, Chrabieh M, Bigio B, Hur H, Itan Y, Liang Y, Okada S, Izawa K, Nishikomori R, Ohara O, Heike T, Abel L, Puel A, Saito MK, Casanova JL, Hagiwara M, Yasumi T. Boisson B, et al. Among authors: nihira h. J Clin Invest. 2019 Feb 1;129(2):583-597. doi: 10.1172/JCI124011. Epub 2018 Dec 18. J Clin Invest. 2019. PMID: 30422821 Free PMC article.
Successful treatment of spondyloenchondrodysplasia with baricitinib.
Shimizu M, Inoue N, Mizuta M, Irabu H, Okajima M, Honda Y, Nihira H, Izawa K, Yachie A, Wada T. Shimizu M, et al. Among authors: nihira h. Rheumatology (Oxford). 2021 Feb 1;60(2):e44-e46. doi: 10.1093/rheumatology/keaa356. Rheumatology (Oxford). 2021. PMID: 32856090 No abstract available.
Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals characteristic elevation of type II interferon signature and STAT1 hyperactivation.
Nihira H, Izawa K, Ito M, Umebayashi H, Okano T, Kajikawa S, Nanishi E, Keino D, Murakami K, Isa-Nishitani M, Shiba T, Honda Y, Hijikata A, Yasu T, Kubota T, Hasegawa Y, Kawashima Y, Nakano N, Takada H, Ohga S, Heike T, Takita J, Ohara O, Takei S, Takahashi M, Kanegane H, Morio T, Iwaki-Egawa S, Sasahara Y, Nishikomori R, Yasumi T. Nihira H, et al. J Allergy Clin Immunol. 2021 Aug;148(2):550-562. doi: 10.1016/j.jaci.2021.01.018. Epub 2021 Jan 30. J Allergy Clin Immunol. 2021. PMID: 33529688 Clinical Trial.
Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.
Honda Y, Maeda Y, Izawa K, Shiba T, Tanaka T, Nakaseko H, Nishimura K, Mukoyama H, Isa-Nishitani M, Miyamoto T, Nihira H, Shibata H, Hiejima E, Ohara O, Takita J, Yasumi T, Nishikomori R. Honda Y, et al. Among authors: nihira h. J Clin Immunol. 2021 Aug;41(6):1187-1197. doi: 10.1007/s10875-021-01021-7. Epub 2021 Mar 17. J Clin Immunol. 2021. PMID: 33733382
Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency.
Shiraki M, Williams E, Yokoyama N, Shinoda K, Nademi Z, Matsumoto K, Nihira H, Honda Y, Izawa K, Nishikomori R, Slatter MA, Cant AJ, Gennery AR, Ohnishi H, Kanegane H. Shiraki M, et al. Among authors: nihira h. J Clin Immunol. 2021 Nov;41(8):1954-1956. doi: 10.1007/s10875-021-01124-1. Epub 2021 Aug 24. J Clin Immunol. 2021. PMID: 34427832 No abstract available.
Case Report: A Case of Epstein-Barr Virus-Associated Acute Liver Failure Requiring Hematopoietic Cell Transplantation After Emergent Liver Transplantation.
Nakajima K, Hiejima E, Nihira H, Kato K, Honda Y, Izawa K, Kawabata N, Kato I, Ogawa E, Sonoda M, Okamoto T, Okajima H, Yasumi T, Takita J. Nakajima K, et al. Among authors: nihira h. Front Immunol. 2022 Jan 28;13:825806. doi: 10.3389/fimmu.2022.825806. eCollection 2022. Front Immunol. 2022. PMID: 35154146 Free PMC article.
Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation.
Nishitani-Isa M, Mukai K, Honda Y, Nihira H, Tanaka T, Shibata H, Kodama K, Hiejima E, Izawa K, Kawasaki Y, Osawa M, Katata Y, Onodera S, Watanabe T, Uchida T, Kure S, Takita J, Ohara O, Saito MK, Nishikomori R, Taguchi T, Sasahara Y, Yasumi T. Nishitani-Isa M, et al. Among authors: nihira h. J Exp Med. 2022 Jun 6;219(6):e20211889. doi: 10.1084/jem.20211889. Epub 2022 Apr 28. J Exp Med. 2022. PMID: 35482294 Free PMC article.
113 results