M. Yamada

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Chronic Mucocutaneous Candidiasis Caused by a Gain-of-Function Mutation in the STAT1 DNA-Binding Domain

O. Ohara, S. Takezaki, M. Yamada, 2012, The Journal of Immunology.

In vivo kinetics of transduced cells in peripheral T cell-directed gene therapy: role of CD8+ cells in improved immunological function in an adenosine deaminase (ADA)-SCID patient.

N. Niikawa, M. Yamada, I. Kobayashi, 1999, Journal of immunology.

Elevation of serum IgE level and peripheral eosinophil count during T lymphocyte-directed gene therapy for ADA deficiency: implication of Tc2-like cells after gene transduction procedure.

M. Yamada, I. Kobayashi, T. Ariga, 1998, Immunology letters.

Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency.

M. Yamada, I. Kobayashi, T. Ariga, 1998, Blood.

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

O. Ohara, M. Yamada, I. Kobayashi, 2011, British journal of haematology.

Possible application of flow cytometry for evaluation of the structure and functional status of WASP in peripheral blood mononuclear cells

M. Yamada, T. Ariga, Y. Sakiyama, 2009, European journal of haematology.

Two Novel Gain-of-Function Mutations of STAT1 Responsible for Chronic Mucocutaneous Candidiasis Disease: Impaired Production of IL-17A and IL-22, and the Presence of Anti–IL-17F Autoantibody

T. Morio, H. Takada, S. Takezaki, 2014, The Journal of Immunology.

Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

H. Kanegane, N. Matsumoto, M. Shiina, 2018, The American Journal of Human Genetics.

A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins

M. Kitaichi, M. Yamada, T. Akimoto, 2015, European Journal of Pediatrics.

A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases.

H. Takada, S. Takezaki, M. Yamada, 2017, Clinical immunology.

Anasarca as the initial symptom in a Japanese girl with Sjögren’s syndrome

S. Takezaki, M. Yamada, I. Kobayashi, 2017 .

Tracking gene expression in primary immunodeficiencies

M. Yamada, D. Nelson, A. V. Gulino, 2003, Current opinion in allergy and clinical immunology.

Interstitial lung disease associated with juvenile dermatomyositis: clinical features and efficacy of cyclosporin A.

Y. Takahashi, M. Yamada, I. Kobayashi, 2002, Rheumatology.

Characterization of a deletion mutation involving exons 3–7 of the WASP gene detected in a patient with Wiskott‐Aldrich syndrome

M. Yamada, T. Ariga, Y. Sakiyama, 1997, Human mutation.

Disease specificity of anti-tryptophan hydroxylase-1 and anti-AIE-75 autoantibodies in APECED and IPEX syndrome.

L. Notarangelo, S. Takezaki, M. Yamada, 2015, Clinical immunology.

Rapid progression to pulmonary arterial hypertension crisis associated with mixed connective tissue disease in an 11-year-old girl

S. Takezaki, M. Yamada, Y. Yamazaki, 2013, European Journal of Pediatrics.

Impact of folate therapy on combined immunodeficiency secondary to hereditary folate malabsorption.

M. Yamada, Natsuko Chida, Kunihiko Kobayashi, 2014, Clinical immunology.

Autoantibodies to villin occur frequently in IPEX, a severe immune dysregulation, syndrome caused by mutation of FOXP3.

M. Yamada, I. Kobayashi, T. Ariga, 2011, Clinical immunology.

Anti-melanoma differentiation-associated gene 5 antibody is a diagnostic and predictive marker for interstitial lung diseases associated with juvenile dermatomyositis.

M. Yamada, I. Kobayashi, T. Ariga, 2011, The Journal of pediatrics.

Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)

H. Ochs, M. Yamada, I. Kobayashi, 2001, Journal of medical genetics.

Wiskott-Aldrich syndrome with unusual clinical features similar to juvenile myelomonocytic leukemia

M. Yamada, Kunihiko Kobayashi, D. Suzuki, 2012, International Journal of Hematology.

Determination of the deletion breakpoints in two patients with contiguous gene syndrome encompassing CYBB gene.

M. Yamada, I. Kobayashi, T. Ariga, 2010, European journal of medical genetics.

Development of germinoma during the treatment of systemic-onset juvenile idiopathic arthritis with infliximab

S. Takezaki, M. Yamada, I. Kobayashi, 2012, Modern rheumatology.

Spontaneous In Vivo Reversion of an Inherited Mutation in the Wiskott-Aldrich Syndrome1

M. Yamada, T. Ariga, Y. Sakiyama, 2001, The Journal of Immunology.

Determination of Carrier Status for the Wiskott-Aldrich Syndrome by Flow Cytometric Analysis of Wiskott-Aldrich Syndrome Protein Expression in Peripheral Blood Mononuclear Cells1

M. Yamada, I. Kobayashi, T. Ariga, 2000, The Journal of Immunology.

Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers.

M. Yamada, I. Kobayashi, T. Ariga, 1999, Blood.

Autoantibody IL-17F - and the Presence of Anti Impaired Production of IL-17A and IL-22, Mucocutaneous Candidiasis Disease: Responsible for Chronic STAT1Novel Gain-of-Function Mutations of

T. Morio, H. Takada, M. Yamada, 2017 .

Relapsing Polychondritis With Increased Bone Marrow Signal on Magnetic Resonance Imaging in a 13-Year-Old Girl.

S. Takezaki, M. Yamada, T. Ariga, 2017, Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases.

Hematopoietic Cell Transplantation for Inborn Errors of Immunity Other than Severe Combined Immunodeficiency in Japan: Retrospective Analysis for 1985–2016

T. Morio, M. Yamada, K. Imai, 2021, Journal of clinical immunology.

Tacrolimus in combination with methotrexate and corticosteroid for the treatment of child-onset anti-signal recognition particle antibody-positive necrotizing myopathy

S. Takezaki, M. Yamada, I. Kobayashi, 2017, Scandinavian journal of rheumatology.

Myositis-specific autoantibodies in Japanese patients with juvenile idiopathic inflammatory myopathies

S. Takezaki, M. Yamada, I. Kobayashi, 2019, Modern rheumatology.

Nonconditioned ADA-SCID gene therapy reveals ADA requirement in the hematopoietic system and clonal dominance of vector-marked clones

K. Okamura, Motohiro Kato, M. Yamada, 2021, Molecular Therapy. Methods & Clinical Development.

Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis

O. Ohara, H. Kanegane, S. Takezaki, 2012, International Journal of Hematology.

Evaluation of systemic activity of pediatric primary Sjögren’s syndrome by EULAR Sjögren’s syndrome disease activity index (ESSDAI)

S. Takezaki, M. Yamada, I. Kobayashi, 2019, Modern rheumatology.

Eponym: Barth syndrome.

I. Nishino, M. Yamada, T. Ariga, 2011, European journal of pediatrics.

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

J. Franco, W. Al-Herz, T. Morio, 2014, The Journal of allergy and clinical immunology.

Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium

I. Nishino, M. Yamada, T. Ariga, 2011, European Journal of Pediatrics.

Successful reduced-intensity SCT from unrelated cord blood in three patients with X-linked SCID

S. Takezaki, M. Yamada, I. Kobayashi, 2011, Bone Marrow Transplantation.

Successful Reduced-Intensity Stem Cell Transplantation From Unrelated Cord Blood In Three Patients with X-Linked Severe Combined Immunodeficiency.

S. Takezaki, M. Yamada, I. Kobayashi, 2010 .

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

H. Kanegane, T. Morio, Hiroki Sato, 2009, The Journal of pediatrics.

Clinical characteristics and genotype-phenotype correlations in C3 deficiency.

M. Yamada, I. Kobayashi, T. Ariga, 2016, The Journal of allergy and clinical immunology.

Hereditary interstitial lung diseases manifesting in early childhood in Japan

M. Yamada, T. Ariga, H. Minakami, 2014, Pediatric Research.

Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease

H. Kanegane, T. Morio, M. Takagi, 2018, International Journal of Hematology.

Epstein–Barr virus‐associated B‐cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome

K. Ohshima, M. Yamada, I. Kobayashi, 2007, American journal of medical genetics. Part A.

Color Doppler ultrasonography for evaluation of gastroesophageal reflux in a sick child

M. Yamada, I. Kobayashi, Y. Sakiyama, 1998, Acta paediatrica.

Successful Treatment with Methylprednisolone Pulse Therapy for a Life-Threatening Pulmonary Insufficiency in a Patient with Chronic Granulomatous Disease following Pulmonary Invasive Aspergillosis and Burkholderia cepacia Infection

M. Yamada, Kunihiko Kobayashi, Y. Sakiyama, 1999, Respiration.

Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells

H. Takada, T. Hara, M. Nagasawa, 2011, The Journal of experimental medicine.

Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome

H. Takada, T. Hara, M. Nagasawa, 2009, The Journal of experimental medicine.

Genetic studies of three Japanese patients with p22‐phox‐deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype–phenotype correlation in these patients

M. Yamada, T. Ariga, Kunihiko Kobayashi, 2000, British journal of haematology.

Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells.

S. Takezaki, M. Yamada, I. Kobayashi, 2012, Gene.

Mutation Analysis of Five Japanese Families with Wiskott-Aldrich Syndrome and Determination of the Family Members' Carrier Status Using Three Different Methods

M. Yamada, T. Ariga, Y. Sakiyama, 1997, Pediatric Research.

X-linked agammaglobulinemia in a 10-year-old boy with a novel non-invariant splice-site mutation in Btk gene.

M. Yamada, T. Ariga, N. Kawamura, 2010, Blood cells, molecules & diseases.

Identification of an autoimmune enteropathy-related 75-kilodalton antigen.

H. Tonoki, T. Moriuchi, M. Yamada, 1999, Gastroenterology.

Clinical and laboratory features of fatal rapidly progressive interstitial lung disease associated with juvenile dermatomyositis.

S. Takezaki, M. Yamada, I. Kobayashi, 2015, Rheumatology.

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

O. Ohara, H. Kanegane, H. Takada, 2011, The Journal of allergy and clinical immunology.

Single Cell-Based Vector Tracing in Patients with ADA-SCID Treated with Stem Cell Gene Therapy

M. Yamada, T. Ariga, M. Onodera, 2017, Molecular therapy. Methods & clinical development.

Hematopoietic Cell Transplantation for Inborn Errors of Immunity Other than Severe Combined Immunodeficiency in Japan: Retrospective Analysis for 1985–2016

T. Morio, M. Yamada, K. Imai, 2022, Journal of Clinical Immunology.

Detection of lymphocytes and granulocytes expressing the mutant WASP message in carriers of Wiskott‐Aldrich syndrome

S. Saitoh, M. Yamada, T. Ariga, 1999, British journal of haematology.

Monocyte/macrophage-Specific NADPH Oxidase Contributes to Antimicrobial Host Defense in X-CGD

M. Yamada, I. Kobayashi, T. Ariga, 2015, Journal of Clinical Immunology.

Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence

H. Kanegane, C. Picard, M. Yamada, 2022, Journal of Clinical Immunology.

Successful bone marrow transplantation in two sisters with activated phosphoinositide 3-kinase δ syndrome 2

S. Takezaki, M. Yamada, Y. Yamazaki, 2017, Bone Marrow Transplantation.

c-kit Activating Mutations and Mast Cell Proliferation in Human Leukemia

M. Peitsch, A. Fischer, W. Friedrich, 2017 .

Blood Mononuclear Cells Syndrome Protein Expression in Peripheral Cytometric Analysis of Wiskott-Aldrich Wiskott-Aldrich Syndrome by Flow Determination of Carrier Status for the Kobayashi and Yukio

M. Yamada, I. Kobayashi, T. Ariga, 2000 .

Neonatal lupus erythematosus with diffuse iron deposition in the liver on magnetic resonance imaging

M. Yamada, Yutaka Uzuki, Hirotaka Kato, 2021 .

Mixed chimera status of 12 patients with Wiskott-Aldrich syndrome (WAS) after hematopoietic stem cell transplantation: evaluation by flow cytometric analysis of intracellular WAS protein expression.

Yasuhiko Ito, M. Yamada, T. Ariga, 2002, Blood.

Fusarium falciforme infection in a patient with chronic granulomatous disease: Unique long‐term course of epidural abscess

S. Takezaki, M. Yamada, I. Kobayashi, 2015, Pediatrics international : official journal of the Japan Pediatric Society.

Syndrome Inherited Mutation in the Wiskott-Aldrich Spontaneous In Vivo Reversion of an Sakiyama

M. Yamada, T. Ariga, Kunihiko Kobayashi, 2001 .

Genetic basis for childhood interstitial lung disease among Japanese infants and children

M. Yamada, T. Ariga, H. Minakami, 2018, Pediatric Research.

Coexistence of acute poststreptococcal glomerulonephritis and acute rheumatic fever in a Japanese girl with primary Sjögren’s syndrome

S. Takezaki, M. Yamada, I. Kobayashi, 2020, Modern rheumatology case reports.

Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes

H. Kanegane, H. Ochs, M. Yamada, 2011, Journal of Human Genetics.

Combined immunodeficiency, chromosomal instability, and postnatal growth deficiency in a Japanese girl.

S. Matsuura, M. Yamada, I. Kobayashi, 2001, American journal of medical genetics.

A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM).

O. Ohara, M. Yamada, T. Ariga, 2019, Clinical immunology.

Progression of palindromic rheumatism to juvenile idiopathic arthritis in a Japanese girl carrying heterozygous L110P-E148Q substitutions of MEFV gene

S. Takezaki, M. Yamada, Y. Yamazaki, 2018, Modern rheumatology.

Detection of a novel splice-site mutation that results in skipping exon 3 of the WASP gene in a patient with Wiskott-Aldrich syndrome.

M. Yamada, T. Ariga, Y. Sakiyama, 1996, Biochimica et biophysica acta.

Progressive multifocal leukoencephalopathy with mild clinical conditions and detection of archetype-like JC virus in cerebrospinal fluid

M. Yamada, A. Nagai, I. Yabe, 2021, Journal of NeuroVirology.

STAT1 DNA-Binding Domain by a Gain-of-Function Mutation in the Chronic Mucocutaneous Candidiasis Caused

O. Ohara, S. Takezaki, M. Yamada, 2012 .

Erratum to: Efficacy and Safety of IgPro20, a Subcutaneous Immunoglobulin, in Japanese Patients with Primary Immunodeficiency Diseases

H. Kanegane, H. Takada, T. Hara, 2014, Journal of Clinical Immunology.

Efficacy and Safety of IgPro20, a Subcutaneous Immunoglobulin, in Japanese Patients with Primary Immunodeficiency Diseases

H. Kanegane, H. Takada, T. Hara, 2014, Journal of Clinical Immunology.

Platelet‐specific hemophagocytosis in a patient with juvenile dermatomyositis

M. Yamada, I. Kobayashi, K. Kobayashi, 2000, Acta paediatrica.

Effects of enzyme replacement therapy on immune function in ADA deficiency patient.

M. Yamada, T. Ariga, M. Hershfield, 2015, Clinical immunology.

Outcomes in Two Japanese Adenosine Deaminase-Deficiency Patients Treated by Stem Cell Gene Therapy with No Cytoreductive Conditioning

M. Kitagawa, S. Takezaki, M. Yamada, 2015, Journal of Clinical Immunology.

Persistent systemic rotavirus vaccine infection in a child with X‐linked severe combined immunodeficiency

S. Komoto, T. Yoshikawa, M. Yamada, 2019, Journal of medical virology.

Systemic sarcoidosis with bone marrow involvement showing Propionibacterium acnes in the lymph nodes

Y. Eishi, M. Yamada, C. Nishigori, 2015, Journal of the European Academy of Dermatology and Venereology : JEADV.

A 5-year-old boy with unicentric Castleman disease affecting the mesentery: utility of serum IL-6 level and (18)F-FDG PET for diagnosis.

M. Yamada, T. Ariga, T. Itoh, 2009, Journal of pediatric hematology/oncology.

Development of Graves' disease during drug-free remission of juvenile dermatomyositis.

S. Takezaki, M. Yamada, I. Kobayashi, 2021, Modern Rheumatology Case Reports.

Case Report: Rotavirus Vaccination and Severe Combined Immunodeficiency in Japan

H. Kanegane, T. Morio, T. Yoshikawa, 2022, Frontiers in Immunology.

Possible application of flow cytometry for evaluation of the structure and functional status of WASP in peripheral blood mononuclear cells

M. Yamada, T. Ariga, Y. Sakiyama, 2009, European journal of haematology.

Rheumatoid factor-positive synovitis in a patient with C3 deficiency

Y. Takahashi, M. Yamada, I. Kobayashi, 2012, Scandinavian journal of rheumatology.

Monocyte/macrophage-Specific NADPH Oxidase Contributes to Antimicrobial Host Defense in X-CGD

M. Yamada, I. Kobayashi, T. Ariga, 2015, Journal of Clinical Immunology.

Genetic basis for childhood interstitial lung disease among Japanese infants and children

M. Yamada, T. Ariga, H. Minakami, 2018, Pediatric Research.

Safety and efficacy of elapegademase in patients with adenosine deaminase deficiency: A multicenter, open‐label, single‐arm, phase 3, and postmarketing clinical study

T. Morio, M. Yamada, T. Ariga, 2023, Immunity, inflammation and disease.