Presentation
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
Scientific Publications
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2026
Human LFA-1 governs T cell immune surveillance of the skin., Sci Immunol
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2025
IRF4 haploinsufficiency in a multiplex family with Whipple's disease., J Hum Immun
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2025
Two different forms of inherited human TCRα chain deficiency., J Hum Immun
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2024
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is ca..., J Clin Invest
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2024
A sensitive assay for measuring whole-blood responses to type I IFNs., Proc Natl Acad Sci U S A
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2024
Helper T cell immunity in humans with inherited CD4 deficiency., J Exp Med
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2022
The risk of COVID-19 death is much greater and age dependent with type I IFN ..., Proc Natl Acad Sci U S A
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2021
Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α a..., J Allergy Clin Immunol
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2020
Improving the diagnostic efficiency of primary immunodeficiencies with target..., J Allergy Clin Immunol
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2020
Inherited human IFN-γ deficiency underlies mycobacterial disease., J Clin Invest
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2019
Homozygous gain-of-function mutation in siblings with a syndromic form of re..., Proc Natl Acad Sci U S A
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2019
A deep intronic splice mutation of underlies hyper IgE syndrome by negative ..., Proc Natl Acad Sci U S A
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2019
Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Geno..., Open Forum Infect Dis
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2019
Inherited IL-18BP deficiency in human fulminant viral hepatitis., J Exp Med