Research summary
Retroviral transfer of a corrective γc-receptor cDNA into autologous CD34+ cells reconstituted T- and NK-cell differentiation in SCID-X1 patients, providing the first clinical demonstration that ex vivo gene therapy of hematopoietic stem cells could restore adaptive immunity in a Mendelian primary immunodeficiency [1]. Nine children with autosomal-recessive MyD88 deficiency suffered life-threatening recurrent pyogenic bacterial infections including invasive pneumococcal disease while showing normal resistance to most other pathogens, revealing a narrower-than-expected role for MyD88-dependent TLR/IL-1R signaling in human infection [2]. The IUIS Expert Committee 2019 classification of human inborn errors of immunity provided the updated reference taxonomy for primary immunodeficiencies, organizing disorders by molecular and immunological mechanism [3], with the 2015 update reporting 34 new gene defects since the previous version and emphasizing the increasing overlap between immunodeficiency and immune dysregulation [4]. A prospective Paris observational study of 21 children and adolescents during the April-May 2020 COVID-19 wave described a Kawasaki-like multisystem inflammatory syndrome (PIMS-TS/MIS-C) temporally associated with SARS-CoV-2 infection [5]. TLR3 dominant-negative alleles in otherwise healthy children with HSV-1 encephalitis established TLR3-dependent CNS antiviral immunity, with TLR3 expressed in CNS, epithelial, and dendritic cells and required to control HSV-1 spread from epithelium to CNS [6]. Autosomal-recessive IL-17RA deficiency and autosomal-dominant IL-17F deficiency were identified as genetic etiologies of chronic mucocutaneous candidiasis disease (CMCD), with IL-17RA deficiency abolishing IL-17 cytokine signaling [7]. Homozygosity mapping in nine Tunisian multiplex families identified IL-36-receptor antagonist (IL-36RA) deficiency as the cause of generalized pustular psoriasis [8].
Recent publications
- Gene Therapy of Human Severe Combined Immunodeficiency (SCID)-X1 DiseaseDOI
- X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfyDOI
- Pyogenic Bacterial Infections in Humans with MyD88 DeficiencyDOI
- Human CD14dim Monocytes Patrol and Sense Nucleic Acids and Viruses via TLR7 and TLR8 ReceptorsDOI
- Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert CommitteeDOI
- Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015DOI
- Kawasaki-like multisystem inflammatory syndrome in children during the covid-19 pandemic in Paris, France: prospective observational studyDOI
- TLR3 Deficiency in Patients with Herpes Simplex EncephalitisDOI
- Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 ImmunityDOI
- Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular PsoriasisDOI
The lab page does not clearly state student acceptance status. Email the professor directly to confirm.
How to apply
Email Jean‐Laurent Casanova 6-12 months before your application deadline. Read several recent papers and reference specific work in your message. Use our how to email a Japanese professor guide for the proven email structure.
For applications via MEXT scholarship: see our MEXT 2027 complete guide and university-specific University Recommendation track.
External profiles
- ORCID: https://orcid.org/0000-0002-7782-4169
- OpenAlex: openalex.org
Profile compiled from public sources (Researchmap, OpenAlex, Hiroshima University faculty directory). Last refreshed 2026-05. Report incorrect information.