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Impaired development of B cells with PRF1 variants in an adult

Scandinavian journal of rheumatology, 2024, Vol.53 (1), p.74-76

2024

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Novel mutations in a Japanese patient with CD19 deficiency

Genes and immunity, 2007-12, Vol.8 (8), p.663-670

2007

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Paediatric presentation and outcome of congenital protein C deficiency in Japan

Haemophilia : the official journal of the World Federation of Hemophilia, 2013-05, Vol.19 (3), p.378-384

2013

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Long-term results of the Japanese Childhood Cancer and Leukemia Study Group studies 811, 841, 874 and 911 on childhood acute lymphoblastic leukemia

Leukemia, 2010-02, Vol.24 (2), p.335-344

2010

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Primary cutaneous Ewing sarcoma following metastasis to the bone and lymph nodes

British journal of dermatology (1951), 2014-09, Vol.171 (3), p.660-662

2014

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Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation

Journal of investigational allergology & clinical immunology, 2015-01, Vol.25 (3), p.205-213

2015

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Contribution of the CXC chemokines IP-10 and Mig to the antitumor effects of IL-12

Journal of leukocyte biology, 1998-09, Vol.64 (3), p.384-392

1998

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A Novel Missense Mutation of DKC1 In Dyskeratosis Congenita With Pulmonary Fibrosis

Sarcoidosis, vasculitis, and diffuse lung diseases, 2013-11, Vol.30 (3), p.221-225

2013

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Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry

Clinical and experimental immunology, 2000-06, Vol.120 (3), p.512-517

2000

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Successful treatment of systemic cytomegalovirus infection in severe combined immunodeficiency using allogeneic bone marrow transplantation followed by adoptive immunotherapy

Journal of investigational allergology & clinical immunology, 2014, Vol.24 (3), p.200-202

2014

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APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans

Journal of allergy and clinical immunology, 2020-11, Vol.146 (5), p.1109-1120.e4

2020

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A novel immunoregulatory protein in human colostrum, syntenin-1, for promoting the development of IgA-producing cells from cord blood B cells

International immunology, 2009-09, Vol.21 (9), p.1013-1023

2009

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Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity

Journal of clinical immunology, 2020-07, Vol.40 (5), p.729-740

2020

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Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa

International journal of immunogenetics, 2011-08, Vol.38 (4), p.287-293

2011

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Severe primary antibody deficiency due to a novel mutation of mu heavy chain

Journal of investigational allergology & clinical immunology, 2012, Vol.22 (1), p.78-79

2012

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Novel mutation of IL2RG gene in a Korean boy with X-linked severe combined immunodeficiency

Journal of investigational allergology & clinical immunology, 2013, Vol.23 (1), p.65-67

2013

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Activation‐dependent T cell expression of the X‐linked lymphoproliferative disease gene product SLAM‐associated protein and its assessment for patient detection

International immunology, 2002-10, Vol.14 (10), p.1215-1223

2002

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Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

Human mutation, 2002-03, Vol.19 (3), p.209-216

2002

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X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world

The World Allergy Organization journal, 2019-01, Vol.12 (3), p.100018-100018, Article 100018

2019

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Clinical and virologic characteristics of chronic active Epstein-Barr virus infection

Blood, 2001-07, Vol.98 (2), p.280-286

2001

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

Journal of allergy and clinical immunology, 2013-05, Vol.131 (5), p.1437-1440.e5

2013

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Increased Cell-Free Viral DNA in Fatal Cases of Chronic Active Epstein-Barr Virus Infection

Clinical infectious diseases, 1999-04, Vol.28 (4), p.906-909

1999

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Expression of Fcγ and complement receptors in monocytes of X-linked agammaglobulinaemia and common variable immunodeficiency patients

Clinical and experimental immunology, 2007-12, Vol.150 (3), p.422-428

2007

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Proposed guidelines for diagnosing chronic active Epstein‐Barr virus infection

American journal of hematology, 2005-09, Vol.80 (1), p.64-69

2005

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Impaired development of B cells with PRF1 variants in an adult

Novel mutations in a Japanese patient with CD19 deficiency

Paediatric presentation and outcome of congenital protein C deficiency in Japan

Long-term results of the Japanese Childhood Cancer and Leukemia Study Group studies 811, 841, 874 and 911 on childhood acute lymphoblastic leukemia

Primary cutaneous Ewing sarcoma following metastasis to the bone and lymph nodes

Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation

Contribution of the CXC chemokines IP-10 and Mig to the antitumor effects of IL-12

A Novel Missense Mutation of DKC1 In Dyskeratosis Congenita With Pulmonary Fibrosis

Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry

Successful treatment of systemic cytomegalovirus infection in severe combined immunodeficiency using allogeneic bone marrow transplantation followed by adoptive immunotherapy

APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans

A novel immunoregulatory protein in human colostrum, syntenin-1, for promoting the development of IgA-producing cells from cord blood B cells

Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity

Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa

Severe primary antibody deficiency due to a novel mutation of mu heavy chain

Novel mutation of IL2RG gene in a Korean boy with X-linked severe combined immunodeficiency

Activation‐dependent T cell expression of the X‐linked lymphoproliferative disease gene product SLAM‐associated protein and its assessment for patient detection

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world

Clinical and virologic characteristics of chronic active Epstein-Barr virus infection

Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency

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

Increased Cell-Free Viral DNA in Fatal Cases of Chronic Active Epstein-Barr Virus Infection

Expression of Fcγ and complement receptors in monocytes of X-linked agammaglobulinaemia and common variable immunodeficiency patients

Proposed guidelines for diagnosing chronic active Epstein‐Barr virus infection

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