List of works - Satoshi Okada

A 2-year-old Japanese girl with TNF receptor-associated periodic syndrome: A case report of the youngest diagnosed proband in Japan

scientific article published on 20 June 2014

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months

scientific article published on 02 February 2020

A Case with Spondyloenchondrodysplasia Treated with Growth Hormone

scientific article published on 10 July 2017

A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency

scientific article published on 15 February 2021

A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer

scientific article

A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis

scientific article published on 09 June 2017

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

scientific article

A novel mutation (Gln433Glu) in exon 12 combined with the G insertion in exon 13 causes severe factor XI deficiency in Japanese patients.

scientific article published in July 2007

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS

scientific article published on 21 June 2021

Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations

scientific article published in December 2016

Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants

scientific article published on 31 July 2012

Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ

scientific article

Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region

scientific article published on 14 February 2013

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

scientific article published on 14 December 2016

Anti-human neutrophil antigen-1a, -1b, and -2 antibodies in neonates and children with immune neutropenias analyzed by extracted granulocyte antigen immunofluorescence assay

scientific article published on 20 August 2017

Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency

scientific article published on 13 February 2019

Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15.

scientific article published on 9 April 2009

Characteristic clinical features of adipsic hypernatremia patients with subfornical organ-targeting antibody

scientific article published on 28 September 2017

Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity

scientific article published on 02 December 2016

Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan

scientific article published on 28 September 2017

DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice

scientific article

Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan

scientific article published in December 2008

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease

scientific article published on 7 June 2012

Dr. Maeshima, et al, reply

scientific article published on 01 June 2019

Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome.

scientific article

Erratum: Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

scientific article published in Nature

Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation

scientific article published in August 2015

Flow cytometry-based diagnosis of primary immunodeficiency diseases

scientific article

Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

scientific article published on 19 April 2012

Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma

scientific article published on 30 April 2019

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

scientific article

Gain-of-function mutation causes human combined immune deficiency

scientific article published on 18 October 2018

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

scientific article published on 07 December 2016

Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

scientific article published on 23 May 2019

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

scientific article published on 16 November 2012

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations

scientific article published on 07 June 2017

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis

scientific article published on 12 April 2013

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

scientific article

Hoxb4 transduction down-regulates Geminin protein, providing hematopoietic stem and progenitor cells with proliferation potential.

scientific article

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

scientific article published on 01 December 2018

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy

scientific article published on 27 August 2020

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

scientific article

Human genetic and immunological determinants of critical COVID-19 pneumonia

scientific article published on 28 January 2022

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

scientific article

IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation

scientific article published on 11 November 2013

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

scientific article

IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation

scientific article published on 20 October 2020

Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis

scientific article

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

scientific article published in February 2018

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

scientific article

Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan

scientific article published on 16 February 2018

Increased Risk for Malignancies in 131 Affected Mutation Carriers

scientific article published on 10 September 2018

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

scientific article published on 11 December 2017

Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

scientific article

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

scientific article published on June 2015

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

scientific article published on 20 January 2021

Management of advanced-stage neuroblastoma in a patient with 21-hydroxalase deficiency

scientific article published on 01 August 2013

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

scientific article published on 25 October 2018

Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation

scientific article

Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.

scientific article published on 08 April 2010

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

scientific article published on 07 July 2015

Mosaicism of an ELANE Mutation in an Asymptomatic Mother in a Familial Case of Cyclic Neutropenia

article published in 2015

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

scientific article

NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations

scientific article published on 04 October 2021

Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

scientific article published on 8 July 2008

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

scientific article published on 24 May 2013

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

scientific article published on 31 July 2017

Non-androgen secreting adrenocortical carcinoma in preadolescence: a case report and literature review

scientific article

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

scientific article published on 20 August 2013

Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency

scientific article published on 29 June 2016

Polycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity.

scholarly article

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency

scientific article published on 18 December 2018

Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation

scientific article published on 16 March 2020

Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial

scientific article

Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation

scientific article published on 21 October 2016

Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan

scientific article published on 29 December 2015

Significant augmentation of regulatory T cell numbers occurs during the early neonatal period.

scientific article published on 5 July 2017

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis

scientific article published on 16 December 2013

Steroid-Dependent ACTH-Produced Thymic Carcinoid: Regulation of POMC Gene Expression by Cortisol via Methylation of Its Promoter Region

article

The expansion of human T-bet high CD21 low B cells is T cell dependent

The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction

scientific article published on 18 May 2007

Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2

scientific article

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

scientific article published on 11 July 2016

VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection.

scientific article published in December 2013

List of works by Satoshi Okada

A 2-year-old Japanese girl with TNF receptor-associated periodic syndrome: A case report of the youngest diagnosed proband in Japan

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months

A Case with Spondyloenchondrodysplasia Treated with Growth Hormone

A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency

A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer

A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

A novel mutation (Gln433Glu) in exon 12 combined with the G insertion in exon 13 causes severe factor XI deficiency in Japanese patients.

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS

Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations

Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants

Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ

Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

Anti-human neutrophil antigen-1a, -1b, and -2 antibodies in neonates and children with immune neutropenias analyzed by extracted granulocyte antigen immunofluorescence assay

Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency

Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15.

Characteristic clinical features of adipsic hypernatremia patients with subfornical organ-targeting antibody

Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity

Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan

DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice

Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease

Dr. Maeshima, et al, reply

Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome.

Erratum: Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation

Flow cytometry-based diagnosis of primary immunodeficiency diseases

Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Gain-of-function mutation causes human combined immune deficiency

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Hoxb4 transduction down-regulates Geminin protein, providing hematopoietic stem and progenitor cells with proliferation potential.

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Human genetic and immunological determinants of critical COVID-19 pneumonia

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation

Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan

Increased Risk for Malignancies in 131 Affected Mutation Carriers

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

Management of advanced-stage neuroblastoma in a patient with 21-hydroxalase deficiency

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation

Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

Mosaicism of an ELANE Mutation in an Asymptomatic Mother in a Familial Case of Cyclic Neutropenia

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations

Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

Non-androgen secreting adrenocortical carcinoma in preadolescence: a case report and literature review

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency

Polycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity.

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency

Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation

Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial

Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation

Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan

Significant augmentation of regulatory T cell numbers occurs during the early neonatal period.

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis

Steroid-Dependent ACTH-Produced Thymic Carcinoid: Regulation of POMC Gene Expression by Cortisol via Methylation of Its Promoter Region