Loïc Chentout

发表

Heterozygous RELA mutations cause early-onset systemic lupus erythematosus by hijacking the NF-κB pathway towards transcriptional activation of type-I Interferon genes

F. Rieux-Laucat, C. Bodemer, C. Picard, 2020, bioRxiv.

Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)

A. Fischer, C. Picard, A. Durandy, 2017, Haematologica.

Loss of ARHGEF1 causes a human primary antibody deficiency

T. Molina, A. Fischer, C. Picard, 2019, The Journal of clinical investigation.

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency

U. Pannicke, K. Schwarz, J. Casanova, 2023, Science Immunology.

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency

J. Casanova, A. Durandy, L. Galicier, 2023, The Journal of experimental medicine.

Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling

C. Picard, A. Durandy, M. Parisot, 2021, Frontiers in Pediatrics.

From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.

J. Casanova, É. Oksenhendler, A. Durandy, 2020, The Journal of pediatrics.

Abnormal autophagy is a critical mechanism in TANGO2-related rhabdomyolysis

P. van Endert, A. Imbard, N. Dupont, 2023, bioRxiv.

TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning

P. van Endert, N. Dupont, Nicolas Goudin, 2023, bioRxiv.

Poly-GP accumulation due to C9orf72 loss of function induces motor neuron apoptosis through autophagy and mitophagy defects

D. Edbauer, Nicolas Goudin, E. Kabashi, 2024, Autophagy.