Fumiaki Sakura

Hiroshima, Japan

Last Updated: 09/26/2026

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Found 23 publications

Correction: Clinical and immunological characterization of NFKB1 haploinsufficiency in Japan.

Correction: Clinical and immunological characterization of NFKB1 haploinsufficiency in Japan.

Journal: Frontiers in immunology

Published: July 10, 2026

Clinical and immunological characterization of NFKB1 haploinsufficiency in Japan.

Clinical and immunological characterization of NFKB1 haploinsufficiency in Japan.

Journal: Frontiers in immunology

Published: April 27, 2026

The Co-Occurrence of Low-Frequency Pathogenic Variants in TBXA2R Exacerbating the Hemorrhagic Symptoms in Siblings with Hemophilia B.

The Co-Occurrence of Low-Frequency Pathogenic Variants in TBXA2R Exacerbating the Hemorrhagic Symptoms in Siblings with Hemophilia B.

Journal: Seminars in thrombosis and hemostasis

Published: April 17, 2025

X-linked severe combined immunodeficiency with Down syndrome identified by newborn screening.

X-linked severe combined immunodeficiency with Down syndrome identified by newborn screening.

Journal: Journal of human immunity

Published: April 07, 2025

Prolonged diagnostic journey in delayed-onset adenosine deaminase deficiency.

Prolonged diagnostic journey in delayed-onset adenosine deaminase deficiency.

Journal: Clinical immunology (Orlando, Fla.)

Published: October 01, 2024

Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

Journal: Journal of clinical immunology

Published: August 14, 2024

Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

Journal: Journal of clinical immunology

Published: February 02, 2024

Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.

Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.

Journal: International journal of neonatal screening

Published: November 30, 2023

A case of primary ciliary dyskinesis with DRC1 deletion and literature review: Additional evidence on the founder effect.

A case of primary ciliary dyskinesis with DRC1 deletion and literature review: Additional evidence on the founder effect.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: November 14, 2023

Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis.

Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis.

Journal: The Journal of experimental medicine

Published: October 17, 2023

Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.

Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.

Journal: International journal of neonatal screening

Published: September 20, 2023

Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC.

Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC.

Journal: Research square

Published: August 14, 2023

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Last Updated: 09/26/2026