Timi Martelius

Haartmaninkatu 4, PL 372
Helsinki, 00029, Finland

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 31 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

Bronchiectasis, Low IgG Levels and Lack of Vaccination are Risk Factors for Covid-19 Hospitalization in X-linked Agammaglobulinemia - A Retrospective Multicenter Study.

Bronchiectasis, Low IgG Levels and Lack of Vaccination are Risk Factors for Covid-19 Hospitalization in X-linked Agammaglobulinemia - A Retrospective Multicenter Study.

Journal: Journal of clinical immunology

Published: March 30, 2025

Precision T cell correction platform for inborn errors of immunity.

Precision T cell correction platform for inborn errors of immunity.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: February 14, 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

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

Hybrid Immunity Improves the Immune Response after the Fourth COVID-19 Vaccine Dose in Individuals with Medical Conditions Predisposing to Severe COVID-19.

Hybrid Immunity Improves the Immune Response after the Fourth COVID-19 Vaccine Dose in Individuals with Medical Conditions Predisposing to Severe COVID-19.

Journal: Vaccines

Published: January 04, 2024

Clinical and functional spectrum of RAC2-related immunodeficiency.

Clinical and functional spectrum of RAC2-related immunodeficiency.

Journal: Blood

Published: August 07, 2023

Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation.

Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation.

Journal: Journal of clinical immunology

Published: May 11, 2023

Glimpses into treating GLILD.

Glimpses into treating GLILD.

Journal: The Journal of allergy and clinical immunology

Published: May 01, 2023

Editorial: Updates on the pathogenesis of common variable immunodeficiency (CVID).

Editorial: Updates on the pathogenesis of common variable immunodeficiency (CVID).

Journal: Frontiers in immunology

Published: December 23, 2022

Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis.

Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis.

Journal: Cell reports. Medicine

Published: December 14, 2022

Showing 1-12 of 31

Last Updated: 09/26/2026