Loic Chentout

Paris, 75015, France

Last Updated: 09/26/2026

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Found 8 publications

TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning.

TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning.

Journal: Autophagy reports
Published: December 26, 2024

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

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

Journal: Autophagy
Published: September 24, 2024

Rescuing the cytolytic function of APDS1 patient T cells via TALEN-mediated PIK3CD gene correction.

Rescuing the cytolytic function of APDS1 patient T cells via TALEN-mediated PIK3CD gene correction.

Journal: Molecular therapy. Methods & clinical development
Published: May 12, 2023

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

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

Journal: The Journal of experimental medicine
Published: July 28, 2022

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.

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.

Journal: Frontiers in pediatrics
Published: March 30, 2021

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

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

Journal: The Journal of pediatrics
Published: November 26, 2019

Loss of ARHGEF1 causes a human primary antibody deficiency.

Loss of ARHGEF1 causes a human primary antibody deficiency.

Journal: The Journal of clinical investigation
Published: February 15, 2018

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

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

Journal: Haematologica
Published: April 22, 2017
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Last Updated: 09/26/2026