Publications by authors named "J P De Villartay"
Article Synopsis
- * A patient with neonatal thrombocytopenia and combined immunodeficiency was found to have a new mutation (G12E) in RAP1B, which enhanced its activity and affected immune responses.
- * The study suggests that RAP1B gain-of-function mutations lead to immunodeficiency and thrombocytopenia, with varying severity, and that stem cell transplantation can effectively treat these conditions.
J Allergy Clin Immunol
November 2024
Article Synopsis
- DNA-PKcs is crucial for repairing DNA double-strand breaks and is linked to a rare immunodeficiency in humans, with few documented cases compared to the well-studied Scid mouse model.
- Seven patients with mutations in the PRKDC gene showed severe combined immunodeficiency symptoms, including granulomas and autoimmunity, highlighting a predominantly inflammatory clinical picture.
- Hematopoietic stem cell transplantation has proven effective for many, leading to meaningful recovery of T- and B-cell functions in the long-term follow-up of most patients.
Commun Biol
February 2024
Article Synopsis
- Researchers developed a mouse model to better understand NS progression by analyzing molecular profiles that match both mice and human patients.
- The study highlights the role of specific cytokines and proteases in disease severity and proposes a new signaling pathway involving tissue kallikrein-related proteases and IL-36, offering potential therapeutic targets.
Article Synopsis
- Telomeres are protective structures at the ends of chromosomes, and telomerase, a complex essential for maintaining their length, is affected by genetic defects, leading to rare disorders known as telomere biology disorders (TBDs).
- This study presents four unrelated individuals with TBDs related to mutations in the ACD gene, which encodes TPP1, highlighting specific mutations that impair telomerase activity and disrupt telomere stability.
- The research also identifies potential genetic patterns in the ACD gene and a mutation in one patient's cells that may provide a survival advantage, expanding understanding of the consequences of TPP1 deficiency on telomere maintenance.
