Etsushi Toyofuku
Tokyo, Japan
Last Updated: 09/26/2026
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Found 13 publications
Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.
Journal: Journal of clinical immunology
Published: May 16, 2025
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.
Journal: Science (New York, N.Y.)
Published: February 29, 2024
Congenital cytomegalovirus infection in a preterm infant with 22q11.2 deletion syndrome and immunological abnormalities.
Journal: Nagoya journal of medical science
Published: March 24, 2023
An adult case of suspected A20 haploinsufficiency mimicking polyarteritis nodosa.
Journal: Rheumatology (Oxford, England)
Published: February 10, 2022
Dysregulation of the Intestinal Microbiome in Patients With Haploinsufficiency of A20.
Journal: Frontiers in cellular and infection microbiology
Published: October 01, 2021
Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.
Journal: Frontiers in immunology
Published: September 28, 2021
An infant with X-linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report.
Journal: Clinical case reports
Published: July 20, 2021
Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.
Journal: Journal of clinical immunology
Published: January 28, 2020
Influenza-induced hemolytic crisis in glucose-6-phosphate dehydrogenase deficiency.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: December 22, 2019
Multidrug-resistant Gram-negative Bacterial Bloodstream Infections in Children's Hospitals in Japan, 2010-2017.
Journal: The Pediatric infectious disease journal
Published: January 24, 2019
Last Updated: 09/26/2026