Timo J. Hautala

Oulu, Finland

Last Updated: 09/26/2026

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Found 51 publications

Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.

Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 05, 2025

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 05, 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

RAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.

RAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.

Journal: Cancer cell

Published: November 22, 2024

A20 haploinsufficiency disturbs immune homeostasis and drives the transformation of lymphocytes with permissive antigen receptors.

A20 haploinsufficiency disturbs immune homeostasis and drives the transformation of lymphocytes with permissive antigen receptors.

Journal: Science advances

Published: August 21, 2024

Recurrent ocular toxoplasmosis is associated with interferon-gamma deficiency possibly due to genetic origin.

Recurrent ocular toxoplasmosis is associated with interferon-gamma deficiency possibly due to genetic origin.

Journal: BMJ open ophthalmology

Published: May 11, 2024

Rubella virus-associated granulomas controlled with allogeneic hematopoietic stem cell transplantation.

Rubella virus-associated granulomas controlled with allogeneic hematopoietic stem cell transplantation.

Journal: Journal of clinical immunology

Published: May 02, 2024

XMEN disease caused by the novel MAGT1 p.(Trp136*) mutation may present with neuropsychiatric symptoms.

XMEN disease caused by the novel MAGT1 p.(Trp136*) mutation may present with neuropsychiatric symptoms.

Journal: Journal of neuroimmunology

Published: March 22, 2024

Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis.

Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis.

Journal: Journal of clinical immunology

Published: December 15, 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

Low and high serum IgG associates with respiratory infections in a young and working age population.

Low and high serum IgG associates with respiratory infections in a young and working age population.

Journal: EBioMedicine

Published: March 16, 2023

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 51

Last Updated: 09/26/2026