Mikko J. Seppanen

Haartmaninkatu 4, PL 372
Helsinki, 00029, Finland

Last Updated: 09/26/2026

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Found 107 publications

Homozygous loss-of-function mutation in SIT1 leads to combined immunodeficiency due to dysregulated T-cell receptor signaling.

Homozygous loss-of-function mutation in SIT1 leads to combined immunodeficiency due to dysregulated T-cell receptor signaling.

Journal: The Journal of allergy and clinical immunology

Published: August 05, 2025

Inborn errors of immunity: manifestation, treatment, and outcome - an ESID registry 1994-2024 report on 30,628 patients.

Inborn errors of immunity: manifestation, treatment, and outcome - an ESID registry 1994-2024 report on 30,628 patients.

Journal: medRxiv : the preprint server for health sciences

Published: June 26, 2025

Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.

Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.

Journal: Journal of human immunity

Published: February 19, 2025

The 2024 update of IUIS phenotypic classification of human inborn errors of immunity.

The 2024 update of IUIS phenotypic classification of human inborn errors of immunity.

Journal: Journal of human immunity

Published: February 19, 2025

Inborn errors of immunity: Manifestation, treatment, and outcome-an ESID registry 1994-2024 report on 30,628 patients.

Inborn errors of immunity: Manifestation, treatment, and outcome-an ESID registry 1994-2024 report on 30,628 patients.

Journal: Journal of human immunity

Published: February 18, 2025

Generation of two human induced pluripotent stem cell lines from peripheral blood mononuclear cells featuring normal or mutated STAB1 gene.

Generation of two human induced pluripotent stem cell lines from peripheral blood mononuclear cells featuring normal or mutated STAB1 gene.

Journal: Stem cell research

Published: February 12, 2025

Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia.

Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia.

Journal: Clinical immunology (Orlando, Fla.)

Published: January 05, 2025

From rare to more common: The emerging role of omics in improving understanding and treatment of severe inflammatory and hyperinflammatory conditions.

From rare to more common: The emerging role of omics in improving understanding and treatment of severe inflammatory and hyperinflammatory conditions.

Journal: The Journal of allergy and clinical immunology

Published: October 07, 2024

A TOM1 variant impairs interaction with TOLLIP, autophagosome-lysosome fusion and regulation of innate immunity.

A TOM1 variant impairs interaction with TOLLIP, autophagosome-lysosome fusion and regulation of innate immunity.

Journal: Disease models & mechanisms

Published: October 07, 2024

A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.

A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.

Journal: Science translational medicine

Published: September 18, 2024

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.

Journal: Blood

Published: September 09, 2024

Heterozygous loss of MAP4K1 causes immune dysregulation by amplifying T-cell responses.

Heterozygous loss of MAP4K1 causes immune dysregulation by amplifying T-cell responses.

Journal: The Journal of allergy and clinical immunology

Published: August 29, 2024

Showing 1-12 of 107

Last Updated: 09/26/2026