Publications by authors named "Remi Chevalier"
Article Synopsis
- Epidermodysplasia verruciformis (EV) is a rare skin condition linked to β-human papillomaviruses (HPV) in immunodeficient individuals, presenting as flat warts and pityriasis-like lesions.
- The study details three patients from two families with syndromic EV, identified through whole exome sequencing to have new homozygous variants in the STK4 gene, resulting in a premature stop codon.
- STK4 deficiency causes a combined immunodeficiency leading to increased susceptibility to various infections and autoimmune issues, as evidenced by immunophenotyping showing significant CD4 T cell deficiency in the patients.
Article Synopsis
- A study conducted at Ibn Rochd University Hospital-Casablanca from 2017 to 2021 found that unusual viral skin infections were often the first signs of inborn errors of immunity in children, affecting 1.3% of patients with suspected IEI.
- The research involved 591 newly diagnosed patients, identifying specific genetic deficiencies like GATA2, STK4, and COPA in some, linked to chronic or resistant viral skin infections.
- The study emphasizes the importance of recognizing these skin infections as potential indicators of underlying immunological issues, which could improve diagnosis and treatment for affected children and their families.
Inborn errors of TLR3-dependent type I IFN immunity in cortical neurons underlie forebrain herpes simplex virus-1 (HSV-1) encephalitis (HSE) due to uncontrolled viral growth and subsequent cell death. We report an otherwise healthy patient with HSE who was compound heterozygous for nonsense (R422*) and frameshift (P493fs9*) variants. Receptor-interacting protein kinase 3 (RIPK3) is a ubiquitous cytoplasmic kinase regulating cell death outcomes, including apoptosis and necroptosis.
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