Kaarina Heiskanen
Helsinki, 00290, Finland
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 13 publications
A TOM1 variant impairs interaction with TOLLIP, autophagosome-lysosome fusion and regulation of innate immunity.
Journal: Disease models & mechanisms
Published: October 07, 2024
Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction.
Journal: Human molecular genetics
Published: April 22, 2024
Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling.
Journal: Journal of clinical immunology
Published: March 22, 2022
STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation.
Journal: Immunity
Published: March 21, 2022
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Journal: The Journal of allergy and clinical immunology
Published: November 03, 2021
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
Journal: Journal of clinical immunology
Published: August 23, 2019
Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions.
Journal: Acta dermato-venereologica
Published: May 01, 2019
Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.
Journal: NPJ genomic medicine
Published: November 07, 2018
Fecal Calprotectin Test Performed at Home: A Prospective Study of Pediatric Patients With Inflammatory Bowel Disease.
Journal: Journal of pediatric gastroenterology and nutrition
Published: December 15, 2017
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.
Journal: Blood
Published: October 29, 2014
Medicine shortages--a study of community pharmacies in Finland.
Journal: Health policy (Amsterdam, Netherlands)
Published: June 21, 2014
Skin reactions during anti-TNFα therapy for pediatric inflammatory bowel disease: a 2-year prospective study.
Journal: Inflammatory bowel diseases
Published: June 12, 2014
Last Updated: 09/26/2026