Erika Della Mina
Dr. Erika Della Mina earned her PhD summa cum laude from the University of Pavia, Italy, where she pioneered Next Generation Sequencing applications for complex genetic disorders. During her postdoctoral training at the Imagine Institute in Paris, she worked with Professors Jean-Laurent Casanova and Laurent Abel to uncover mechanisms behind novel inborn errors of immunity (IEI), including IRAK1, TIRAP, and IL17RA deficiencies. She subsequently joined Professor Yanick Crow’s team, contributing to the identification of key interferonopathies such as DNaseII, cGAS, and ATAD3A deficiencies.
Currently, Erika investigates the functional consequences of genetic variants in rare IEIs, specifically those affecting B cell development, maturation and function. By employing orthogonal strategies to concomitantly assess molecular, transcriptional, biochemical, and cellular readouts she works to decipher “variants of unknown significance” (VOUS). Her research focuses on defining molecular pathogenesis to drive definitive diagnoses, family screening and the development of personalised therapies.
Selected publications
See all publications- 2026Nature Immunology10.1038/s41590-025-02381-7
Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function.
- 2024Journal of Clinical Immunology10.1007/s10875-024-01801-x
Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.
- 2024Journal of Clinical Immunology10.1007/s10875-024-01774-x
A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.
- 2024Cell10.1016/j.cell.2024.04.009
FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice.
- 2024Journal of Clinical Immunology10.1007/s10875-024-01665-1
A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome.