Satoshi Okada
A5030970846- Immunodeficiency and Autoimmune Disorders
- Blood disorders and treatments
- Immune Cell Function and Interaction
- Mycobacterium research and diagnosis
- T-cell and B-cell Immunology
- interferon and immune responses
- Diabetes and associated disorders
- SARS-CoV-2 and COVID-19 Research
- Immune Response and Inflammation
- Chronic Lymphocytic Leukemia Research
- Cytokine Signaling Pathways and Interactions
- Metabolism and Genetic Disorders
- COVID-19 Clinical Research Studies
- Epigenetics and DNA Methylation
- Tuberculosis Research and Epidemiology
- Lung Cancer Diagnosis and Treatment
- NF-κB Signaling Pathways
- Erythrocyte Function and Pathophysiology
- Cytomegalovirus and herpesvirus research
- Diet and metabolism studies
- Antimicrobial Peptides and Activities
- Lung Cancer Treatments and Mutations
- Inflammasome and immune disorders
- Platelet Disorders and Treatments
- Neutropenia and Cancer Infections
Hiroshima University
2016-2025
National Center For Child Health and Development
2024-2025
Tokyo Dental College Ichikawa General Hospital
2008-2024
Hiroshima University Hospital
2006-2024
Development Research Center
2024
National Institute for Japanese Language and Linguistics
2024
Kobe University
1982-2023
Chiba University
2023
Nagoya University
2009-2023
Himeji Red Cross Hospital
2023
Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F deficiency or recessive (AR) IL-17RA deficiency. Here, using whole-exome sequencing, we identified heterozygous germline mutations in STAT1 47 patients from 20 kindreds with AD CMCD. Previously described mutant alleles are loss-of-function and cause predisposition to mycobacterial impaired STAT1-dependent cellular responses IFN-γ. Other AR intracellular bacterial viral diseases, IFN-α/β, IFN-γ,...
Tuberculosis Vaccine Conundrum Some children experience severe clinical disease when they are vaccinated against tuberculosis, an attenuated live vaccine that is normally innocuous in humans. Several germline mutations have been identified account for this susceptibility, and now Bogunovic et al. (p. 1684 , published online 2 August) add another to the list— ISG15 . Uncovering mutation, which inherited autosomal recessive manner, was a surprise because studies with mice deficient showed...
Severe influenza disease strikes otherwise healthy children and remains unexplained. We report compound heterozygous null mutations in IRF7, which encodes the transcription factor interferon regulatory 7, an child who suffered life-threatening during primary infection. In response to virus, patient's leukocytes plasmacytoid dendritic cells produced very little type I III interferons (IFNs). Moreover, dermal fibroblasts induced pluripotent stem cell (iPSC)-derived pulmonary epithelial reduced...
A surprising immune twist for RORC The system needs its full array of soldiers—including cells and the molecules they secrete—to optimally protect host. When this isn't case, minor infections can become chronic or even deadly. Markle et al. report discovery seven individuals carrying loss-of-function mutations in RORC, which encodes transcription factors RORγ RORγT. These lacked that produce cytokine interleukin-17, causing them to suffer from candidiasis. RORC-deficient also exhibited...
Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families four different ethnic groups. These were homozygous for one null mutations, that seen P1. They displayed mycobacterial and/or infections, but no HIES. All eight impaired...
Background Combined immunodeficiencies are marked by inborn errors of T-cell immunity in which the T cells that present quantitatively or functionally deficient. Impaired humoral is also common. Patients have severe infections, autoimmunity, both. The specific molecular, cellular, and clinical features many types combined remain unknown. Methods We performed genetic cellular immunologic studies involving five unrelated children with early-onset invasive bacterial viral lymphopenia, defective...
Hundreds of patients with autosomal recessive, complete IL-12p40 or IL-12Rβ1 deficiency have been diagnosed over the last 20 years. They typically suffer from invasive mycobacteriosis and, occasionally, mucocutaneous candidiasis. Susceptibility to these infections is thought be due impairments IL-12-dependent IFN-γ immunity and IL-23-dependent IL-17A/IL-17F immunity, respectively. We report here IL-12Rβ2 IL-23R deficiency, lacking responses IL-12 IL-23 only, all whom, unexpectedly, display...
T cell–derived IFNγ and CD40L/IL-21R signals are crucial for the differentiation of human T-bet high CD21 low B cells.
Recessive or dominant inborn errors of type I interferon (IFN) immunity can underlie critical COVID-19 pneumonia in unvaccinated adults. The risk children, which is much lower than adults, remains unexplained. In an international cohort 112 children (<16 yr old) hospitalized for pneumonia, we report 12 (10.7%) aged 1.5–13 with (7 children), severe (3), and moderate (2) 4 the 15 known clinically recessive biochemically complete IFN immunity: X-linked TLR7 deficiency children) autosomal...
Autoantibodies neutralizing type I interferons (IFNs) can underlie critical COVID-19 pneumonia and yellow fever vaccine disease. We report here on 13 patients harboring autoantibodies IFN-α2 alone (five patients) or with IFN-ω (eight from a cohort of 279 (4.7%) aged 6–73 yr influenza pneumonia. Nine four had antibodies high low concentrations, respectively, IFN-α2, six two IFN-ω. The patients’ increased A virus replication in both A549 cells reconstituted human airway epithelia. prevalence...
Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize I interferons (IFNs)1,2, conferring a predisposition to life-threatening COVID-19 pneumonia3. Here we report patients NIK or RELB deficiency, specific of autosomal-dominant NF-κB2 also have neutralizing against IFNs and are at higher risk getting pneumonia. In these found only in individuals who heterozygous for variants associated both...
Patients with autosomal recessive (AR) IL-12p40 or IL-12Rβ1 deficiency display Mendelian susceptibility to mycobacterial disease (MSMD) due impaired IFN-γ production and, less commonly, chronic mucocutaneous candidiasis (CMC) IL-17A/F production. We report six patients from four kindreds AR IL-23R deficiency. These are homozygous for one of different loss-of-function IL23R variants. All have a history MSMD, but only two suffered CMC. show that IL-23 induces IL-17A in MAIT cells, possibly...
In humans, DOCK8 immunodeficiency syndrome is characterized by severe cutaneous viral infections. Thus, CD8 T cell function may be compromised in the absence of DOCK8. this study, analyzing mutant mice and we demonstrate a critical, intrinsic role for peripheral survival function. mutation selectively diminished abundance circulating naive cells both species, DOCK8-deficient most displayed an exhausted CD45RA+CCR7− phenotype. Analyses revealed abnormalities to autonomous primarily...
Significance Chronic mucocutaneous candidiasis (CMC) is defined as persistent or recurrent infections of the skin and/or mucosae by commensal fungi Candida genus. It often seen in patients with T-cell deficiencies, whether inherited acquired, who typically suffer from multiple infectious diseases. Rare are otherwise healthy and display isolated CMC, which segregates a Mendelian trait. In 2011, we described first genetic cause autosomal recessive (AR), complete IL-17 receptor A (IL-17RA)...