
Fusco’s Lab
Group Leader: Francesca Fusco
Institute of Genetics and Biophysics
Key words: human molecular genetics, rare diseases, X-linked diseases, Incontinentia pigmenti disease, genetic biobank, autoimmunity
Contact
Francesca Fusco
00390816132302 | francesca.fusco@igb.cnr.it
https://www.igb.cnr.it/index.php/francesca-fusco/
Institute
Istituto di Genetica e Biofisica “Adriano B. Traverso”
Via Pietro Castellino 111, 80131 Napoli
www.igb.cnr.it
Lab Members
Ezia Spinosa
Alessia Cirello
Activities
Studies of the pathogenesis of human X-linked rare disease and genetic and genomic aspects in genotype-phenotype correlation in human X-linked rare and autoimmunity diseases
Key Publications
- Rosain J, et al., Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases. J Exp Med. 2024 Nov 4;221(11):e20231152. doi: 10.1084/jem.20231152. Epub 2024 Oct 1. PMID: 39352576; PMCID: PMC11448874.
- Asano T, et al. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life- threatening COVID-19. Science Immunol. 2021;6(62):eabl4348.
- Bastard P, et al. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. Science Immunol. 2021 6(62):eabl4340.
- Zhang Q, et al. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. 2020;370(6515):eabd4570.
- Bastard P, et al. Autoantibodies against type I IFNs in patients with life-threatening COVID-19. Science. 2020 Oct 23;370(6515):eabd4585.
Instrument & technologies
Facs Facility, microscopy.
