Guidelines for the genetic diagnosis of hereditary recurrent fevers

…, S Lezer, A Livneh, I Moix, R Nishikomori… - Annals of the …, 2012 - ard.bmj.com
Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases
characterised by recurrent bouts of fever and serosal inflammation that are caused by …

Flow cytometry-based diagnosis of primary immunodeficiency diseases

…, M Yamashita, T Yeh, R Nishikomori… - Allergology …, 2018 - jstage.jst.go.jp
… ū B cells, B-cell activating factor receptor (BAFF-R) on B cells, and the inducible co-stimulator
(ICOS) on … CD19 on B cells BAFF-R on B cells ICOS on activated T cells X-linked HIGM …

[HTML][HTML] STING signalling is terminated through ESCRT-dependent microautophagy of vesicles originating from recycling endosomes

…, M Nishitani-Isa, K Izawa, R Nishikomori… - Nature Cell …, 2023 - nature.com
Stimulator of interferon genes (STING) is essential for the type I interferon response against
a variety of DNA pathogens. Upon emergence of cytosolic DNA, STING translocates from the …

Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-κB activation: common genetic etiology with Blau syndrome

N Kanazawa, I Okafuji, N Kambe, R Nishikomori… - Blood, 2005 - ashpublications.org
Early-onset sarcoidosis (EOS) and inheritable Blau syndrome (BS) share characteristic
clinical features of juvenile-onset systemic granulomatosis syndrome that mainly affects skin, …

[PDF][PDF] GATA-3 suppresses Th1 development by downregulation of Stat4 and not through effects on IL-12Rβ2 chain or T-bet

T Usui, R Nishikomori, A Kitani, W Strober - Immunity, 2003 - cell.com
To further understand the interaction among GATA-3, Stat4, and T-bet in helper T cell
development, we first showed that retroviral expression of GATA-3 in developing Th1 cells …

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter …

…, K Oshima, O Ohara, R Nishikomori… - Arthritis & …, 2011 - Wiley Online Library
… Ryuta Nishikomori, Department of Pediatrics, Kyoto University Graduate School of Medicine…
Ohara and Nishikomori had full access to all of the data in the study and take responsibility …

Complete reconstitution of human lymphocytes from cord blood CD34+ cells using the NOD/SCID/γcnull mice model

H Hiramatsu, R Nishikomori, T Heike, M Ito… - Blood, 2003 - ashpublications.org
Establishment of an assay capable of generating all classes of human lymphocytes from
hematopoietic stem cells (HSCs) will provide new insight into the mechanism of human …

BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies

…, D Liberatore, Y Ohtsuka, YL Lau, R Nishikomori… - Journal of allergy and …, 2014 - Elsevier
Background Severe combined immunodeficiency (SCID) is a syndrome characterized by
profound T-cell deficiency. BCG vaccine is contraindicated in patients with SCID. Because most …

STAT4 serine phosphorylation is critical for IL-12-induced IFN-γ production but not for cell proliferation

…, GM Feldman, R Nishikomori… - Proceedings of the …, 2002 - National Acad Sciences
T helper 1 (T H 1) differentiation and IFN-γ production are crucial in cell-mediated immune
responses. IL-12 is an important regulator of this process and mediates its effects through …

[PDF][PDF] Aicardi-Goutieres syndrome is caused by IFIH1 mutations

…, T Awaya, M Funabiki, A Hijikata, R Nishikomori… - The American Journal of …, 2014 - cell.com
Aicardi-Goutières syndrome (AGS) is a rare, genetically determined early-onset progressive
encephalopathy. To date, mutations in six genes have been identified as etiologic for AGS. …