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List of works by Kazushi Izawa

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

scientific article

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

scientific article published on 23 December 2016

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 ⬇️

scientific article published on July 18, 2013

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells

scientific article published on 19 September 2019

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

scientific article published on January 24, 2012

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

scientific article published on 15 January 2016

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

scientific article published on July 14, 2011

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

scientific article

Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection

scientific article published on 23 December 2016

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