Publications by authors named "Timo Hautala"

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

Mol Ther· November 2025

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RAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.
Eli L Diamond, Jean-Francois Emile, Takeshi Fujino, Julien Haroche, Maxim I Maron, Timo Hautala

Cancer Cell· October 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, Timo Hautala

J Clin Immunol· February 2025

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Recurrent ocular toxoplasmosis is associated with interferon-gamma deficiency possibly due to genetic origin.
Nina Maria Hautala, Maija Joensuu, Teija Paakkola, Virpi Glumoff, Kaisa Kettunen, Timo Hautala

BMJ Open Ophthalmol· September 2024

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XMEN disease caused by the novel MAGT1 p.(Trp136*) mutation may present with neuropsychiatric symptoms.
Henry Villenheimo, Virpi Glumoff, Sami Räsänen, Airi Jartti, Harri Rusanen, Timo Hautala

J Neuroimmunol· August 2024

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A20 haploinsufficiency disturbs immune homeostasis and drives the transformation of lymphocytes with permissive antigen receptors.
Christoph Schultheiß, Lisa Paschold, Alma Nazlie Mohebiany, Moritz Escher, Yogita Mallu Kattimani, Timo Hautala

Sci Adv· August 2024

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Rubella virus-associated granulomas controlled with allogeneic hematopoietic stem cell transplantation.
Timo Hautala, Ludmila Perelygina, Urpu Salmenniemi, Mikko R J Seppänen,

J Clin Immunol· July 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, Timo Hautala

Cell Rep Med· April 2024

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Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis.
Nora Pernaa, Anni Vakkuri, Miika Arvonen, Outi Kuismin, Wenny Santaniemi, Timo Hautala

J Clin Immunol· March 2024

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Low and high serum IgG associates with respiratory infections in a young and working age population.
Pia Holma, Paula Pesonen, Minna K Karjalainen, Marjo-Riitta Järvelin, Sara Väyrynen, Timo Hautala

EBioMedicine· August 2023

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Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis.
Wenny Santaniemi, Pirjo Åström, Virpi Glumoff, Nora Pernaa, Ella-Noora Tallgren, Timo Hautala

J Clin Immunol· July 2023

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CD40LG Triplication Associates with Immune Dysregulation and Exhaustion.
Wenny Santaniemi, Nora Pernaa, Virpi Glumoff, Timo Hautala,

J Clin Immunol· February 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, Timo Hautala

Clin Immunol· January 2023

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Heterozygous premature termination in zinc-finger domain of Krüppel-like factor 2 gene associates with dysregulated immunity.
Nora Pernaa, Salla Keskitalo, Iftekhar Chowdhury, Antti Nissinen, Virpi Glumoff, Timo Hautala

Front Immunol· December 2022

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52-year follow-up of a birth cohort reveals a high pneumonia incidence among young men.
Pia Holma, Paula Pesonen, Olli Mustonen, Marjo-Riitta Järvelin, Heikki Kauma, Timo Hautala

ERJ Open Res· April 2022

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A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment.
Timo Hautala, Paula Vähäsalo, Outi Kuismin, Salla Keskitalo, Kristiina Rajamäki, Nina Hautala

J Clin Rheumatol· December 2021

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Clinical characteristics and evaluation of the incidence of cryptococcosis in Finland 2004-2018.
Anne Toivonen, Mari Eriksson, Nathalie Friberg, Timo Hautala, Sohvi Kääriäinen

Infect Dis (Lond)· September 2021

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Effect of first-line antifungal treatment on ocular complication risk in or yeast blood stream infection.
Nina Hautala, Hannu Köykkä, Mira Siiskonen, Juho Saari, Jari Kauranen, Timo Hautala

BMJ Open Ophthalmol· September 2021

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Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
Meri Kaustio, Naemeh Nayebzadeh, Reetta Hinttala, Terhi Tapiainen, Pirjo Åström, Timo Hautala

J Allergy Clin Immunol· August 2021

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Central Nervous System and Ocular Manifestations in Puumala Hantavirus Infection.
Nina Hautala, Terhi Partanen, Anna-Maria Kubin, Heikki Kauma, Timo Hautala

Viruses· May 2021

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Prevalence, incidence and epidemiology of childhood uveitis.
Mira Siiskonen, Iida Hirn, Roosa Pesälä, Timo Hautala, Pasi Ohtonen, Nina Hautala

Acta Ophthalmol· March 2021

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Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation.
Timo Hautala, Jie Chen, Laura Tervonen, Terhi Partanen, Satu Winqvist

Neurol Genet· December 2020

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Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.
Terhi Partanen, Jie Chen, Johanna Lehtonen, Outi Kuismin, Harri Rusanen, Nina Hautala, Timo Hautala

J Clin Immunol· November 2020

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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer, Natalie Frede, Michele Proietti, Timo Hautala

J Allergy Clin Immunol· October 2020

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Tonsillar granuloma associated with hypogammaglobulinemia.
Aleksi Laajala, Outi Kuismin, Mikko Tastula, Leena Tiitto, Saila Kauppila, Timo Hautala

Allergy Asthma Clin Immunol· May 2020

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