Jean-pierre De Villartay
Paris, France
Last Updated: 09/26/2026
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Found 69 publications
Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease.
Journal: Journal of human immunity
Published: May 16, 2025
Characterization of a Ku-binding motif in the C-terminal region of RAG2.
Journal: DNA repair
Published: February 28, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.
Journal: European journal of human genetics : EJHG
Published: June 24, 2024
HSCT in a Patient with Cernunnos/XLF Deficiency and Omenn Syndrome.
Journal: Journal of clinical immunology
Published: May 16, 2024
Human DNA-dependent protein kinase catalytic subunit deficiency: A comprehensive review and update.
Journal: The Journal of allergy and clinical immunology
Published: September 22, 2023
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
Journal: Human molecular genetics
Published: July 11, 2023
Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency.
Journal: The Journal of clinical investigation
Published: March 07, 2023
Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways.
Journal: Communications biology
Published: March 07, 2023
Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited.
Journal: Journal of clinical immunology
Published: July 05, 2022
Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect.
Journal: Nature communications
Published: June 22, 2022
Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?
Journal: Frontiers in immunology
Published: April 13, 2022
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Journal: The Journal of allergy and clinical immunology
Published: March 28, 2022
Last Updated: 09/26/2026