Senior Research Associate @casanova_lab leading projects on genetic susceptibility to severe or recurrent bacterial infection in children and young adults.
Complete First Issue of Journal of Human Immunity is here! JHI is the official #OpenAccess journal of the International Alliance for Primary Immunodeficiency Societies #IAPIDS. Explore new research and the inaugural editorial from our EiC @casanova_lab 👉 https://t.co/Q6X7A3Miaw
The first JHI articles are online! Poli et al present the 2024 update of the @iuis_online classification of #InbornErrorsOfImmunity (https://t.co/aSTB5IqPKC) & Bousfiha et al provide an accompanying phenotypic classification to assist clinical diagnoses (https://t.co/HPnwwF62Pn)
Poli et al. present the 2024 update of the @iuis_online classification of human #InbornErrorsOfImmunity including 67 novel monogenic defects and 2 new phenocopies. https://t.co/A1J17zNhlf
See also Bousfiha et al.’s accompanying guide for physicians https://t.co/0vtISMtQHy
Bousfiha et al. provide a phenotypic classification, presented in the form of decision trees when possible, of the 2024 update by the @iuis_online expert committee on #InbornErrorsOfImmunity https://t.co/TvSv6yLFOC
See the update itself here: https://t.co/ggI3CBXYBZ
I am thrilled to become the Editor of this new journal and grateful to both RUP and IAPIDS for their trust ! I also thank Megan Cooper who graciously accepted to become the Deputy Editor !
We’re thrilled to announce our partnership with the International Alliance for Primary Immunodeficiency Societies (#IAPIDS) to launch the Journal of Human Immunity (JHI) @jhumimmunity! Stay tuned for groundbreaking, #OpenAccess research on #HumanImmunity! https://t.co/vjXSx6y2k5
There are now >550 inborn errors of immunity 🧬. Latest update from IUIS IEI c’tee is now available on IUIS website & will be formally published soon. Great to be part of this team providing an important resource for all. Well done @IsabelleMeyts@cecipolih & all ctee members!
We're Hiring a Research Assistant! 🌟 We're on the lookout for someone passionate about the crossroads of biology, computational science, & data analysis. Dive into the world of computational biology & data science, working with vast clinical & genomic datasets.#researchjobs
1/ We are excited to report the discovery and mechanistic exploration of human AR complete CCR2 deficiency in @CellCellPress. Surprisingly, CCR2 deficiency underlies two narrow phenotypes: progressive polycystic lung disease and mycobacterial disease (https://t.co/CqtZkU6Qdd).
Our new study is now online, a great effort of the @ibdgc teams and collaborators. Integrating gene associations, PheWAS, pathway analyses, PRS and transcriptomics for discovering IBD variants and genes in Ashkenazi Jewish patients.
@yimingwu9@JudyCho7
https://t.co/DtxYVMxLPS
Aujourd'hui se déroule la journée mondiale de la tuberculose #WorldTuberculosisDay 🦠
À cette occasion, découvrez en vidéo Laurent ABEL vous présenter le laboratoire de génétique humaine des maladies infectieuses 👇
https://t.co/hApwXsLwlW
A study of five unrelated children with multisystem inflammatory syndrome, a rare complication of #SARSCOV2 infection, revealed all exhibit mutations in the OAS–RNase L pathway that result in excessive production of inflammatory cytokines. https://t.co/5cdkNxjlDY
Félicitations au Dr Laurent Abel @LaurentAbel4, lauréat du Grand Prix 2022 de la @FRM_officiel pour ses recherches sur l’étude génétique et immunologique des maladies infectieuses 👏
🔬 En savoir plus sur ses travaux : https://t.co/fNMZZhwwSK
1/ Happy to share our latest discovery and characterization of inherited ITK deficiency associated with tuberculosis in three patients: https://t.co/7usAM67TJ7.