Lista de obras -

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

artículo científico publicado en 2013

Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq

artículo científico publicado en 2016

Acute liver failure in young children with systemic‐onset juvenile idiopathic arthritis without macrophage activation syndrome: Report of two cases ⬇️

artículo científico publicado el 3 de noviembre de 2011

Autoinflammatory phenotypes in Aicardi-Goutières syndrome with interferon upregulation and serological autoimmune features

artículo científico publicado en 2017

Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused by a Novel NFKBIA Mutation, p.Ser36Tyr, Presents with Mild Ectodermal Dysplasia and Non-Infectious Systemic Inflammation ⬇️

artículo científico publicado el 18 de julio de 2013

Birth order effect on childhood food allergy ⬇️

artículo científico publicado el 2 de febrero de 2012

Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism

artículo científico publicado en 2016

Case of cryopyrin-associated periodic syndrome who recovered from growth delay by treatment with canakinumab

artículo científico publicado en 2020

Characterization of NLRP3 Variants in Japanese Cryopyrin-Associated Periodic Syndrome Patients ⬇️

artículo científico publicado el 24 de diciembre de 2011

Clinical and genetic analyses in a patient with PAPA syndrome complicated with inflammatory bowel disease.

artículo científico publicado en 2015

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

artículo científico publicado el 10 de abril de 2003

Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing ⬇️

artículo científico publicado el 24 de enero de 2012

Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with Immunodeficiency ⬇️

artículo científico publicado el 1 de junio de 2012

Diagnostic accuracy of endoscopic features of pediatric acute gastrointestinal graft-versus-host disease

artículo científico publicado en 2016

Disseminated BCG Infection Mimicking Metastatic Nasopharyngeal Carcinoma in an Immunodeficient Child with a Novel Hypomorphic NEMO Mutation ⬇️

artículo científico publicado el 14 de julio de 2011

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

artículo científico publicado en 2012

Effect of eczema on the association between season of birth and food allergy in Japanese children ⬇️

artículo científico publicado el 11 de diciembre de 2012

Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function

artículo científico publicado en 2015

Familial Cases of Periodic Fever with Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome ⬇️

artículo científico publicado el 11 de noviembre de 2010

Guidance on the use of canakinumab in patients with cryopyrin-associated periodic syndrome in Japan ⬇️

artículo científico publicado el 20 de octubre de 2012

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

artículo científico publicado en 2017

High level of serum human interleukin-18 in a patient with pyogenic arthritis, pyoderma gangrenosum and acne syndrome

artículo científico publicado en 2016

Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection

artículo científico publicado en 2016

Influence of post-transplant mucosal-associated invariant T cell recovery on the development of acute graft-versus-host disease in allogeneic bone marrow transplantation

artículo científico publicado en 2018

Mast cells mediate neutrophil recruitment and vascular leakage through the NLRP3 inflammasome in histamine-independent urticaria.

artículo científico publicado en 2009

Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

artículo científico publicado en 2017

Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome ⬇️

artículo científico publicado el 6 de agosto de 2013

Recent new findings in autoinflammatory syndrome ⬇️

artículo científico publicado el 1 de enero de 2011

Reduced Numbers and Proapoptotic Features of Mucosal-associated Invariant T Cells as a Characteristic Finding in Patients with Inflammatory Bowel Disease

artículo científico publicado en 2015

Remarkable improvement of articular pain by biologics in a Multicentric carpotarsal osteolysis patient with a mutation of MAFB gene.

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Secondary bladder amyloidosis with familial Mediterranean fever in a living donor kidney transplant recipient: a case report

artículo científico publicado en 2016

Somatic NLRP3 mosaicism in Muckle-Wells syndrome

artículo científico publicado en 2015

Successful resolution of stromal keratitis and uveitis using canakinumab in a patient with chronic infantile neurologic, cutaneous, and articular syndrome: a case study

artículo científico publicado en 2015

The Effect of Past Food Avoidance Due to Allergic Symptoms on the Growth of Children at School Age ⬇️

artículo científico publicado el 25 de agosto de 2010

Total and Low-Density Lipoprotein Cholesterol Levels are Associated with Atopy in Schoolchildren ⬇️

artículo científico publicado el 10 de diciembre de 2010

Understanding the pathophysiology of NOMID arthropathy for drug discovery by iPSCs technology.

artículo científico publicado en 2015

Lista de obras de

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq

Acute liver failure in young children with systemic‐onset juvenile idiopathic arthritis without macrophage activation syndrome: Report of two cases ⬇️

Autoinflammatory phenotypes in Aicardi-Goutières syndrome with interferon upregulation and serological autoimmune features

Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused by a Novel NFKBIA Mutation, p.Ser36Tyr, Presents with Mild Ectodermal Dysplasia and Non-Infectious Systemic Inflammation ⬇️

Birth order effect on childhood food allergy ⬇️

Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism

Case of cryopyrin-associated periodic syndrome who recovered from growth delay by treatment with canakinumab

Characterization of NLRP3 Variants in Japanese Cryopyrin-Associated Periodic Syndrome Patients ⬇️

Clinical and genetic analyses in a patient with PAPA syndrome complicated with inflammatory bowel disease.

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

Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with &gt;99.9% Statistical Confidence by Massively Parallel Sequencing ⬇️

Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with Immunodeficiency ⬇️

Diagnostic accuracy of endoscopic features of pediatric acute gastrointestinal graft-versus-host disease

Disseminated BCG Infection Mimicking Metastatic Nasopharyngeal Carcinoma in an Immunodeficient Child with a Novel Hypomorphic NEMO Mutation ⬇️

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

Effect of eczema on the association between season of birth and food allergy in Japanese children ⬇️

Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function

Familial Cases of Periodic Fever with Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome ⬇️

Guidance on the use of canakinumab in patients with cryopyrin-associated periodic syndrome in Japan ⬇️

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

High level of serum human interleukin-18 in a patient with pyogenic arthritis, pyoderma gangrenosum and acne syndrome

Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection

Influence of post-transplant mucosal-associated invariant T cell recovery on the development of acute graft-versus-host disease in allogeneic bone marrow transplantation

Mast cells mediate neutrophil recruitment and vascular leakage through the NLRP3 inflammasome in histamine-independent urticaria.

Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome ⬇️

Recent new findings in autoinflammatory syndrome ⬇️

Reduced Numbers and Proapoptotic Features of Mucosal-associated Invariant T Cells as a Characteristic Finding in Patients with Inflammatory Bowel Disease

Remarkable improvement of articular pain by biologics in a Multicentric carpotarsal osteolysis patient with a mutation of MAFB gene.

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

Secondary bladder amyloidosis with familial Mediterranean fever in a living donor kidney transplant recipient: a case report

Somatic NLRP3 mosaicism in Muckle-Wells syndrome

Successful resolution of stromal keratitis and uveitis using canakinumab in a patient with chronic infantile neurologic, cutaneous, and articular syndrome: a case study

The Effect of Past Food Avoidance Due to Allergic Symptoms on the Growth of Children at School Age ⬇️

Total and Low-Density Lipoprotein Cholesterol Levels are Associated with Atopy in Schoolchildren ⬇️

Understanding the pathophysiology of NOMID arthropathy for drug discovery by iPSCs technology.

Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing ⬇️