List of works - Kohsuke Imai

A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer

scientific article

A Stable Mixed Chimera After SCT with RIC in an Infant with IκBα Hypermorphic Mutation

scientific article published on 21 February 2017

A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura

scientific article

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

scientific article

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

scientific article published on 21 June 2021

ADA-SCID with ‘WAZA-ARI’ mutations that synergistically abolished ADA protein stability

scientific article published on 16 March 2011

AID mutant analyses indicate requirement for class-switch-specific cofactors

scientific article published on 10 August 2003

Allogeneic hematopoietic stem cell transplantation for seven children with X-linked hyper-IgM syndrome: a single center experience

scientific article published in May 2004

Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2.

scientific article published in June 2005

Analysis of mutations and recombination activity in RAG-deficient patients.

scientific article

Analysis of somatic hypermutations in the IgM switch region in human B cells

scientific article published on 15 May 2014

Are naïve T cells and class-switched memory (IgD CD27) B cells not essential for establishment and maintenance of pregnancy? Insights from a case of common variable immunodeficiency with pregnancy

scientific article published on 08 September 2018

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations

scientific article published on 30 June 2020

B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil

scientific article

Clinical and genetic characteristics of XIAP deficiency in Japan

scientific article published on 8 January 2012

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study ⬇️

scientific article published on 21 April 2016

Clinical course of patients with WASP gene mutations

scientific article

Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan.

scientific article published on 31 March 2015

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

scientific article published on 16 July 2016

Common Variable Immunodeficiency Caused by FANC Mutations

scientific article

Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles

scientific article published on 28 December 2012

Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis

scientific article published on 24 March 2012

Disseminated fusariosis in a child after haploidentical hematopoietic stem cell transplantation

scientific article published on 01 March 2020

Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry

scientific article published on 01 January 2011

Effect of reduced-intensity conditioning and the risk of late-onset non-infectious pulmonary complications in pediatric patients

scientific article published on 9 September 2017

Endocrine complications in primary immunodeficiency diseases in Japan.

scientific article published in October 2012

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

scientific article

Evans syndrome in a patient with Langerhans cell histiocytosis: possible pathogenesis of autoimmunity in LCH.

scientific article published on 27 November 2007

Fatal idiopathic pneumonia syndrome in Artemis deficiency

scientific article published on 08 August 2019

Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG.

scientific article published on 28 October 2005

Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders

scientific article published on 06 October 2018

Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders

scientific article published on 11 December 2017

Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency Patients: a Japanese Retrospective Study

scientific article published in 2021

Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene

scientific article

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

scientific article published on 5 July 2017

Hemophagocytosis after bone marrow transplantation for JAK3-deficient severe combined immunodeficiency

scientific article published in December 2010

High frequencies of asymptomatic Epstein-Barr virus viremia in affected and unaffected individuals with CTLA4 mutations

article

Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity

scientific article

Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination

scientific article published on 7 September 2003

Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination ⬇️

scientific article

Hyper-eosinophilia in granular acute B-cell lymphoblastic leukemia with myeloid antigen expression

scientific article published on 01 August 2012

Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects

scientific article

Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome

scientific article published on 02 April 2019

Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards.

scientific article

Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes

scientific article

Impact of low-dose irradiation and in vivo T-cell depletion on hematopoietic stem cell transplantation for non-malignant diseases using fludarabine-based reduced-intensity conditioning

scientific article published on 07 December 2018

Impaired induction of DNA lesions during immunoglobulin class-switch recombination in humans influences end-joining repair

scientific article

Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy

scientific article published on 2 August 2017

Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient

scientific article published on 30 March 2012

Mutations in Bruton's tyrosine kinase impair IgA responses

scientific article published on 15 January 2015

Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency

scientific article published on 11 July 2015

Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.

scientific article published on 4 September 2016

Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome

scientific article

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

scientific article published on 29 June 2016

Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.

scientific article

Quantitation of human herpesvirus-6 (HHV-6) DNA in a cord blood transplant recipient with chromosomal integration of HHV-6.

scientific article published on 17 November 2011

Quantitative PCR assay used to monitor serum Trichosporon asahii DNA concentrations in disseminated trichosporonosis

scientific article

RAG1 deficiency may present clinically as selective IgA deficiency

scientific article published on 6 March 2015

RAPID: Resource of Asian Primary Immunodeficiency Diseases

scientific article published on 08 October 2008

Repair of U/G and U/A in DNA by UNG2-associated repair complexes takes place predominantly by short-patch repair both in proliferating and growth-arrested cells

scientific article published on 12 October 2004

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome

scientific article

Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency

scientific article published in December 2007

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

scientific article published on 16 December 2013

Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency

scientific article published on 17 July 2012

Successful treatment of diffuse large B-cell lymphoma in a patient with ataxia telangiectasia using rituximab

scientific article published in August 2013

Successful unrelated cord blood transplantation for a patient with CD40 ligand deficiency

scientific article published in December 2007

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

scientific article published on 29 February 2024

Transient abnormal myelopoiesis in non-Down syndrome neonate

scientific article published in January 2015

Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma

scientific article published in September 2009

WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype

scientific article

WASP is involved in proliferation and differentiation of human haemopoietic progenitors in vitro.

scientific article

Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia.

scientific article

Wiskott-Aldrich syndrome protein induces actin clustering without direct binding to Cdc42

scientific article published on 01 September 1999

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

scientific article

X-linked thrombocytopenia in a girl

scientific article

dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia.

scientific article published in June 2007

List of works by Kohsuke Imai

A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer

A Stable Mixed Chimera After SCT with RIC in an Infant with IκBα Hypermorphic Mutation

A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

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

ADA-SCID with ‘WAZA-ARI’ mutations that synergistically abolished ADA protein stability

AID mutant analyses indicate requirement for class-switch-specific cofactors

Allogeneic hematopoietic stem cell transplantation for seven children with X-linked hyper-IgM syndrome: a single center experience

Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2.

Analysis of mutations and recombination activity in RAG-deficient patients.

Analysis of somatic hypermutations in the IgM switch region in human B cells

Are naïve T cells and class-switched memory (IgD CD27) B cells not essential for establishment and maintenance of pregnancy? Insights from a case of common variable immunodeficiency with pregnancy

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations

B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil

Clinical and genetic characteristics of XIAP deficiency in Japan

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study ⬇️

Clinical course of patients with WASP gene mutations

Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan.

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

Common Variable Immunodeficiency Caused by FANC Mutations

Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles

Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis

Disseminated fusariosis in a child after haploidentical hematopoietic stem cell transplantation

Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry

Effect of reduced-intensity conditioning and the risk of late-onset non-infectious pulmonary complications in pediatric patients

Endocrine complications in primary immunodeficiency diseases in Japan.

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

Evans syndrome in a patient with Langerhans cell histiocytosis: possible pathogenesis of autoimmunity in LCH.

Fatal idiopathic pneumonia syndrome in Artemis deficiency

Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG.

Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders

Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders

Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency Patients: a Japanese Retrospective Study

Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

Hemophagocytosis after bone marrow transplantation for JAK3-deficient severe combined immunodeficiency

High frequencies of asymptomatic Epstein-Barr virus viremia in affected and unaffected individuals with CTLA4 mutations

Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity

Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination

Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination ⬇️

Hyper-eosinophilia in granular acute B-cell lymphoblastic leukemia with myeloid antigen expression

Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects

Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome

Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards.

Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes

Impact of low-dose irradiation and in vivo T-cell depletion on hematopoietic stem cell transplantation for non-malignant diseases using fludarabine-based reduced-intensity conditioning

Impaired induction of DNA lesions during immunoglobulin class-switch recombination in humans influences end-joining repair

Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy

Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient

Mutations in Bruton's tyrosine kinase impair IgA responses

Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency

Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.

Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome

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

Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.

Quantitation of human herpesvirus-6 (HHV-6) DNA in a cord blood transplant recipient with chromosomal integration of HHV-6.

Quantitative PCR assay used to monitor serum Trichosporon asahii DNA concentrations in disseminated trichosporonosis

RAG1 deficiency may present clinically as selective IgA deficiency

RAPID: Resource of Asian Primary Immunodeficiency Diseases

Repair of U/G and U/A in DNA by UNG2-associated repair complexes takes place predominantly by short-patch repair both in proliferating and growth-arrested cells

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome

Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency

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

Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency

Successful treatment of diffuse large B-cell lymphoma in a patient with ataxia telangiectasia using rituximab

Successful unrelated cord blood transplantation for a patient with CD40 ligand deficiency

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

Transient abnormal myelopoiesis in non-Down syndrome neonate

Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma

WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype

WASP is involved in proliferation and differentiation of human haemopoietic progenitors in vitro.

Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia.

Wiskott-Aldrich syndrome protein induces actin clustering without direct binding to Cdc42

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

X-linked thrombocytopenia in a girl

dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia.