Luca Trotta
Helsinki, Finland
Last Updated: 09/26/2026
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Found 10 publications
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
Intracellular concentration of ADA2 is a marker for monocyte differentiation and activation.
Journal: Frontiers of medicine
Published: April 22, 2024
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
Haploinsufficiency of A20 impairs protein-protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation.
Journal: RMD open
Published: June 11, 2018
Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.
Journal: Orphanet journal of rare diseases
Published: April 11, 2018
ADA2 deficiency: Clonal lymphoproliferation in a subset of patients.
Journal: The Journal of allergy and clinical immunology
Published: March 07, 2017
Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.
Journal: The Journal of allergy and clinical immunology
Published: April 11, 2016
Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland.
Journal: European journal of human genetics : EJHG
Published: November 16, 2015
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.
Journal: Blood
Published: October 29, 2014
Showing 1-10 of 10
Last Updated: 09/26/2026