Kazunaga Agematsu

Concurrent central nervous system infection with Candida and Mycobacterium intracellulare in CARD9 deficiency: immunological insights from a single case

Tomonari Shigemura, Haruo Nagumo, Norimoto Koabayashi, Kazunaga Agematsu et autres

Caspase recruitment domain-containing protein 9 (CARD9) deficiency is classically characterized by chronic mucocutaneous candidiasis (CMC) and invasive Candida infections, including central nervous system (CNS) disease. Susceptibility to mycobacterial infection has not been considered a defining feature of CARD9 deficiency. We describe a …

jp (code pays fourni par la source)

Author Correction: KN3014, a piperidine-containing small compound, inhibits auto-secretion of IL-1β from PBMCs in a patient with Muckle–Wells syndrome

Naoe Kaneko, Mie Kurata, Toshihiro Yamamoto, Tomonari Shigemura et autres

Due to an error during figure assembly Figure 3e, panel “Vehicle/LPS(-)” duplicates Figure 3c, panel “MCC950 (50 μM)/LPS (0.1 ng/mL)”. The corrected version of Figure 3 is provided below. Fig. 3 KN3014 reduced ASC-speck formation accompanied by IL-1β processing and secretion with …

jp (code pays fourni par la source)

Unrelated cord blood transplantation using minimal-intensity conditioning in a 1.5-month-old infant with X-linked severe combined immunodeficiency

Tomonari Shigemura, Shohei Shigeto, Tsubasa Murase, Daisuke Morita et autres

jp (code pays fourni par la source)

Next-generation sequencing of the whole MEFV gene in Japanese patients with familial Mediterranean fever: a case-control association study.

Tomohiro Koga, Shuntaro Sato, Hiroyuki Mishima, Kiyoshi Migita et autres

OBJECTIVES: We aimed to identify the whole nucleotide sequence of the Mediterranean fever (MEFV) gene in familial Mediterranean fever (FMF) and reveal novel single nucleotide variants (SNVs) associated with the susceptibility of FMF. METHODS: SeqCap capturing technique followed by Illumina next-generation sequencing …

jp (code pays fourni par la source)

The possession of exon 2 or exon 3 variants in the MEFV gene promotes inflammasome activation in Japanese patients with familial Mediterranean fever with a heterozygous exon 10 mutation.

Yushiro Endo, Tomohiro Koga, Kazusato Hara, Kaori Furukawa et autres

OBJECTIVES: The modification and pathogenesis of MEFV exon 2 or 3 variants in familial Mediterranean fever (FMF) remains unclear. We compared the clinical and laboratory characteristics between the coexistence and noncoexistence of MEFV exon 2 or 3 variants in patients with FMF …

jp (code pays fourni par la source)

KN3014, a piperidine-containing small compound, inhibits auto-secretion of IL-1β from PBMCs in a patient with Muckle–Wells syndrome

Naoe Kaneko, Mie Kurata, Toshihiro Yamamoto, Tomonari Shigemura et autres

NLRP3, an intracellular pattern recognition receptor, recognizes numerous pathogens and/or its own damage-associated molecules, and forms complexes with the adaptor protein ASC. These complexes constitute the NLRP3 inflammasome, a platform for processing interleukin (IL)-1β and/or IL-18. Several NLRP3 mutations result in constitutive …

jp (code pays fourni par la source)

KN3014, a piperidine-containing small compound, inhibits auto-secretion of IL-1 beta from PBMCs in a patient with Muckle-Wells syndrome

Naoe Kaneko, Mie Kurata, Toshihiro Yamamoto, Tomonari Shigemura et autres

Early-Onset Inflammatory Bowel Disease Caused by Mutations in the X-Linked Gene IL2RG

Akimi Ogawa, Takaaki Watanabe, Takenori Natsume, Eri Okura et autres

Microscopic finding of a lesion around ulcers in the transverse colon stained withHaematoxylin and eosin (HE), CD3 immunohistochemical stain (CD3), and CD56 immunohistochemical stain (CD56).

jp (code pays fourni par la source)

SAT0527 COMBINED EFFECT OF COMMON VARIANTS IN EXON 2 OR EXON 3 AND A PATHOGENIC MUTATION IN EXON 10 OF THE MEDITERRANEAN FEVER GENE ON INFLAMMASOME ACTIVATION IN JAPANESE PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER

Tomohiro Koga, Yushiro Endo, Kaori Furukawa, Kazunaga Agematsu et autres

jp (code pays fourni par la source)

[AN ADULT CASE OF PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS, AND ADENITIS (PFAPA) SYNDROME DEVELOPED IN CHILDHOOD AND DIAGNOSED AFTER PROGRESS MORE THAN 30 YEARS].

Akihiro Tsukadaira, Yusuke Takeuchi, Kizuki Watanabe, Koji Tsukamoto et autres

We report an adult case of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome, who had a tonsillectomy at 10 years old and relapsed later. An early 40's-year-old man had been suffering from recurrent fever attack once in 1-2 months during …

jp (code pays fourni par la source)

Drug-discovery for autoinflammatory disease targeting to NLRP3 inflammasome using a cell-free system

Naoe Kaneko, Tomonari Shigemura, Kazunaga Agematsu, Mie Kurata et autres

gb (code pays fourni par la source)

Clinical features and new diagnostic criteria for the syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis

Yusuke Takeuchi, Tomonari Shigemura, Norimoto Kobayashi, Haruo Nagumo et autres

AIM: The syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a common inflammatory disease that presents with periodic fever. We aimed to establish more specific diagnostic criteria for PFAPA based on the clinical characteristics of PFAPA patients in …

jp (code pays fourni par la source)