Publications by authors named "Timi Martelius"

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Precision T cell correction platform for inborn errors of immunity.
Katariina Mamia, Solrun Kolbeinsdottir, Kornel Labun, Zhuokun Li, Anna Komisarczuk, Timi Martelius

Mol Ther· November 2025

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Bronchiectasis, Low IgG Levels and Lack of Vaccination are Risk Factors for Covid-19 Hospitalization in X-linked Agammaglobulinemia - A Retrospective Multicenter Study.
Caroline Stenlander, Hannes Lindahl, Emelie Wahren-Borgström, Christoph B Geier, Anna Sediva, Timi Martelius

J Clin Immunol· November 2025

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Heterozygous loss of MAP4K1 causes immune dysregulation by amplifying T-cell responses.
Meri Kaustio, Monika Szymanska, Weiwei Li, Ragnhild Braathen, Tessa M Campbell, Timi Martelius

J Allergy Clin Immunol· October 2025

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Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia.
Ravindra Daddali, Kaisa Kettunen, Tanja Turunen, Ainsley V C Knox, Pia Laine, Timi Martelius

Clin Immunol· August 2025

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One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.
Ainsley V C Knox, Lauren Y Cominsky, Di Sun, Emylette Cruz Cabrera, Brian E Nolan, Timi Martelius

Blood· May 2025

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Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation.
Suiane Lima de Souza, Takaki Asano, Virpi Glumoff, Salla Keskitalo, Keela Pikkarainen, Timi Martelius

J Clin Immunol· February 2025

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Clinical and functional spectrum of RAC2-related immunodeficiency.
Ágnes Donkó, Svetlana O Sharapova, Juraj Kabat, Sundar Ganesan, Fabian H Hauck, Timi Martelius

Blood· April 2024

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Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis.
Katariina Nurmi, Kristiina Silventoinen, Salla Keskitalo, Kristiina Rajamäki, Vesa-Petteri Kouri, Timi Martelius

Cell Rep Med· April 2024

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Hybrid Immunity Improves the Immune Response after the Fourth COVID-19 Vaccine Dose in Individuals with Medical Conditions Predisposing to Severe COVID-19.
Nina Ekström, Tuija M Leino, Aapo Juutinen, Toni Lehtonen, Anu Haveri, Timi Martelius

Vaccines (Basel)· February 2024

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Glimpses into treating GLILD.
Timi Martelius, Mikko R J Seppänen

J Allergy Clin Immunol· August 2023

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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Jennifer W Leiding, Tiphanie P Vogel, Valentine G J Santarlas, Rahul Mhaskar, Madison R Smith, Timi Martelius

J Allergy Clin Immunol· April 2023

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Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae.
Elina A Tuovinen, Outi Kuismin, Leila Soikkonen, Timi Martelius, Meri Kaustio

Clin Immunol· January 2023

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Editorial: Updates on the pathogenesis of common variable immunodeficiency (CVID).
Timi Martelius, Mikko R J Seppänen, Klaus Warnatz

Front Immunol· January 2023

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Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study.
Svetlana Vakkilainen, Paula Klemetti, Timi Martelius, Mikko Jr Seppänen, Outi Mäkitie

J Clin Immunol· July 2021

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Somatic mutations and T-cell clonality in patients with immunodeficiency.
Paula Savola, Timi Martelius, Matti Kankainen, Jani Huuhtanen, Sofie Lundgren

Haematologica· December 2020

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Three Separate Clinical Entities of Infective Endocarditis-A Population-Based Study From Southern Finland 2013-2017.
Mika Halavaara, Timi Martelius, Veli-Jukka Anttila, Asko Järvinen

Open Forum Infect Dis· September 2020

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Impact of short-incubation MALDI-TOF MS on empiric antibiotic therapy in bloodstream infections caused by Pseudomonas aeruginosa, Enterococcus spp. and AmpC-producing Enterobacteriaceae.
Mika Halavaara, Annika Nevalainen, Timi Martelius, Pentti Kuusela, Veli-Jukka Anttila

Diagn Microbiol Infect Dis· May 2019

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A High Prevalence of Gastrointestinal Manifestations in Common Variable Immunodeficiency.
Sampsa Pikkarainen, Timi Martelius, Ari Ristimäki, Sanna Siitonen, Mikko R J Seppänen

Am J Gastroenterol· April 2019

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Impact of pre-operative antimicrobial treatment on microbiological findings from endocardial specimens in infective endocarditis.
Mika Halavaara, Timi Martelius, Asko Järvinen, Jenni Antikainen, Pentti Kuusela

Eur J Clin Microbiol Infect Dis· March 2019

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Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.
Luca Trotta, Anna Norberg, Mervi Taskinen, Vivien Béziat, Sofie Degerman, Timi Martelius

Orphanet J Rare Dis· August 2018

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ADA2 deficiency: Clonal lymphoproliferation in a subset of patients.
Luca Trotta, Timi Martelius, Timo Siitonen, Timo Hautala, Sari Hämäläinen

J Allergy Clin Immunol· April 2018

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Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.
Meri Kaustio, Emma Haapaniemi, Helka Göös, Timo Hautala, Giljun Park, Timi Martelius

J Allergy Clin Immunol· September 2017

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Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland.
Jannica S Selenius, Timi Martelius, Sampsa Pikkarainen, Sanna Siitonen, Eero Mattila

Front Immunol· September 2017

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Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia.
Svetlana Kostjukovits, Paula Klemetti, Helena Valta, Timi Martelius, Luigi D Notarangelo

J Allergy Clin Immunol· August 2017

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Prognosis of Good syndrome: mortality and morbidity of thymoma associated immunodeficiency in perspective.
Anne Jansen, Marcel van Deuren, Joanne Miller, Jiri Litzman, Javier de Gracia, Timi Martelius

Clin Immunol· October 2016

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