Wiskott–Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses

Jordan S. Orange, Narayanaswamy Ramesh, Eileen Remold‐O’Donnell, +7

Proceedings of the National Academy of Sciences

Mechanism of Recruitment of WASP to the Immunological Synapse and of Its Activation Following TCR Ligation

Yoji Sasahara, Rima Rachid, Michael Byrne, +4

Molecular Cell

Signal TransductionMedicineImmunologyIntercellular CommunicationImmunologic Mechanism +3

WIP is a chaperone for Wiskott–Aldrich syndrome protein (WASP)

Miguel Á. de la Fuente, Yoji Sasahara, Marco Calamito, +10

Proceedings of the National Academy of Sciences

Wiskott-aldrich Syndrome ProteinT-regulatory CellImmunologyMolecular BiologyPathology +19

Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia

Tetsuya Niihori, Meri Ouchi‐Uchiyama, Yoji Sasahara, +14

The American Journal of Human Genetics

Autoimmune DiseasePathologyEncoding Oncoprotein Evi1AutoimmunityCause Radioulnar Synostosis +3

Identification of Severe Combined Immunodeficiency by T-Cell Receptor Excision Circles Quantification Using Neonatal Guthrie Cards

Yoichi Morinishi, Kohsuke Imai, Noriko Nakagawa, +31

The Journal of Pediatrics

Primary ImmunodeficiencySevere Combined ImmunodeficiencyAutoimmune DiseaseAllergyImmunodeficiencies +9

Nationwide Survey of Patients with Primary Immunodeficiency Diseases in Japan

Masataka Ishimura, Hidetoshi Takada, Takehiko Doi, +12

Journal of Clinical Immunology

Primary ImmunodeficiencySexual HealthTreatment And PreventionImmunodeficienciesInternational Health +5

GNE myopathy associated with congenital thrombocytopenia: A report of two siblings

Rumiko Izumi, Tetsuya Niihori, Naoki Suzuki, +17

Neuromuscular Disorders

Gne MyopathyCongenital ThrombocytopeniaPediatricsPathology

Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan

Shintaro Ono, Tsubasa Okano, Akihiro Hoshino, +14

Journal of Clinical Immunology

TransplantationXenotransplantationBone Marrow FailureStem Cell TransplantationImmunology +5

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

Ichiro Kobayashi, Mitsuru Kubota, Masafumi Yamada, +5

Clinical Immunology

Severe Immune DysregulationAutoimmune DiseaseAllergyAutoantibody ProductionDisease Mechanism +8

Identification of FOXP3-negative regulatory T-like (CD4+CD25+CD127low) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

Keisuke Otsubo, Hirokazu Kanegane, Yoshiro Kamachi, +14

Clinical Immunology

InflammationAutoimmune DiseaseImmune DysregulationT-regulatory CellImmunology +10