Using next generation sequencing (whole exome or whole genome sequencing, RNAseq), we search for candidate variants underlying these diseases. Candidate variants are tested using experimental approaches. We also use a number of cutting-edge technologies, such as mass cytometry, imaging mass cytometry (IMC) couple to artificial intelligence-based analytical approaches, or single cell RNA sequencing.

Recently, our team has identified CARMIL2 or CD28 deficiency in patients with severe HPV infection, or “Tree man” syndrome.

Key references:
1. Béziat V^@, Rapaport F, Hu J, Titeux M, Bonnet des Claustres M, Bourgey M, Griffin H, Bandet É, Ma CS, Sherkat R, Rokni-Zadeh H, Louis DM, Changi-Ashtiani M, Delmonte OM, Fukushima T, Habib T, Guennoun A, Khan T, Bender N, Rahman M, About F, Yang R, Rao G, Rouzaud C, Li J, Shearer D, Balogh K, Al Ali F, Ata M, Dabiri S, Momenilandi M, Nammour J, Alyanakian M-A, Leruez-Ville M, Guenat D, Materna M, Marcot L, Vladikine N, Soret C, Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J, Catherinot É, Navabi SS, Zarhrate M, Woodley DT, Jeljeli M, Abraham T, Belkaya S, Lorenzo L, Rosain J, Bayat M, Lanternier F, Lortholary O, Zakavi F, Gros P, Orth G, Abel L, Prétet J-L, Fraitag S, Jouanguy E, Davis MM, Tangye SG, Notarangelo LD, Marr N, Waterboer T, Langlais D, Doorbar J, Hovnanian A, Christensen N, Bossuyt X, Shahrooei M, Casanova J-L. Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy. Cell. 2021 Jul 8;184(14):3812-3828.e30. DOI: 10.1016/j.cell.2021.06.004.

2. Wang Y, Ma CS, Ling Y, Bousfiha A, Camcioglu Y, Jacquot S, Payne K, Crestani E, Roncagalli R, Belkadi A, Kerner G, Lorenzo L, Deswarte C, Chrabieh M, Patin E, Vincent QB, Müller-Fleckenstein I, Fleckenstein B, Ailal F, Quintana-Murci L, Fraitag S, Alyanakian M-A, Leruez-Ville M, Picard C, Puel A, Bustamante J, Boisson-Dupuis S, Malissen M, Malissen B, Abel L, Hovnanian A, Notarangelo LD, Jouanguy E^#, Tangye SG^#, Béziat V^@,#, Casanova J-L^#. Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations. J Exp Med. 2016 Oct 17;213(11):2413–2435. DOI: 10.1084/jem.20160576.

3. Béziat V^@, Casanova J-L, Jouanguy E. Human genetic and immunological dissection of papillomavirus-driven diseases: new insights into their pathogenesis. Curr Opin Virol. 2021 Dec 1;51:9–15. DOI: 10.1016/j.coviro.2021.09.002

Team members

• Vivien Béziat, PhD, Theme leader
• Romain Lévy, MD-PhD
• Anaïs Pereira, Research engineer
• Marie Materna, PhD student
• Mana Momenilandi, PhD student
• Antoine Fayand, MD
• Corentin Le Floch’, Master student