Gain-of-function <i>IKBKB</i> mutation causes human combined immune deficiency

Chelisa Cardinez, Bahar Miraghazadeh, Kay Tanita, +21

The Journal of Experimental Medicine

APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans

Tzu‐Wen Yeh, Tsubasa Okano, Takuya Naruto, +10

Journal of Allergy and Clinical Immunology

Autoimmune DiseaseMedicineImmunologyHematologyBlood Cell +3

Robust and highly efficient hiPSC generation from patient non-mobilized peripheral blood-derived CD34+ cells using the auto-erasable Sendai virus vector

Takashi Okumura, Yumi Horie, Chen‐Yi Lai, +27

Stem Cell Research & Therapy

Role of IL-27 in Epstein–Barr virus infection revealed by IL-27RA deficiency

Emmanuel Martin, Sarah Winter, Cécile Garcin, +29

Nature

InflammationClinical ImmunologyImmune Cell DevelopmentImmunodeficienciesIl-27ra Deficiency +12

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

Tsubasa Okano, Kohsuke Imai, Takuya Naruto, +17

Journal of Clinical Immunology

Inborn ErrorsSequencingMedicineGeneticsPathogenesis +10

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

Daniel Petersheim, Michel J. Massaad, Saetbyul Lee, +21

Journal of Allergy and Clinical Immunology

ImmunogeneticsImmune DeficiencyGenetic DisorderGeneticsImmunodeficiencies +8

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

Akihiro Hoshino, Kay Tanita, Kenji Kanda, +7

Clinical Immunology

Unaffected IndividualsViral PersistencePathogenesisImmunologyCtla4 Mutations +7

Droplet Digital PCR-Based Chimerism Analysis for Primary Immunodeficiency Diseases

Tsubasa Okano, Yuki Tsujita, Hirokazu Kanegane, +11

Journal of Clinical Immunology

Primary ImmunodeficiencyAutoimmune DiseaseMedicineImmunodeficienciesDiagnosis +4

Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation

Kay Tanita, Akihiro Hoshino, Ken-Ichi Imadome, +16

Frontiers in Pediatrics

Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3

Kay Tanita, Fumiaki Sakura, Ryusuke Nambu, +17

Journal of Clinical Immunology

Immunological HeterogeneityJapanese PatientsAutoimmune DiseaseImmunodeficienciesGenetic Epidemiology +11