Jean‐Pierre de Villartay

Délégation Paris 5 — France

Immunology and Microbiology · Life Sciences

61h-index13.8kcitations224works3.42yr avg
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Research Topics

Immune Cell Function and Interaction(72), Immunodeficiency and Autoimmune Disorders(70), DNA Repair Mechanisms(68), T-cell and B-cell Immunology(57), Cytomegalovirus and herpesvirus research(30)

Publications223 total

Clinical and Genetic Insights into Partial RAG Deficiency in Adults: When to Consider Hematopoietic Stem Cell Transplantation?
Journal of Human Immunity·2025Open Access
Novel de novo dominant <i>PSMB10</i> variants in three patients with immune deficiency and liver disease
Journal of Human Immunity·2025· 1 citedOpen Access
Severe Combined Immune Deficiency With Absence of B and T Lymphocytes (T–B–NK+SCIDs): The Key Function of V(D)J Recombination for Lymphocyte Development
Elsevier eBooks·2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
European Journal of Human Genetics·2025· 2 citedOpen Access
Case Report: Hypomorphic Ligase 4 deficiency – a paradigm of immunodysregulation
Frontiers in Immunology·2025· 1 citedOpen Access
Gene Therapy for Artemis-SCID and Artemis-Leaky-SCID Patients: Preliminary Results of the French Artegene Phase I/II Clinical Trial
Blood·2024· 1 citedOpen Access
HSCT in a Patient with Cernunnos/XLF Deficiency and Omenn Syndrome
Journal of Clinical Immunology·2024· 1 citedOpen Access
Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency
Journal of Clinical Investigation·2024· 8 citedOpen Access
Human DNA-dependent protein kinase catalytic subunit deficiency: A comprehensive review and update
Journal of Allergy and Clinical Immunology·2024· 3 cited
Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways
Communications Biology·2024· 11 citedOpen Access
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders
Human Molecular Genetics·2024· 9 cited
Ku-binding motifs in RAG2, XLF, PAXX and MRI support functional redundancy during V(D)J recombination
2023Open Access
XLF/Cernunnos loss impairs mouse brain development by altering symmetric proliferative divisions of neural progenitors
Cell Reports·2023· 5 citedOpen Access
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency
Journal of Allergy and Clinical Immunology·2023· 15 citedOpen Access
Brief Report: T-Cell Receptor α Repertoire Diversity at Birth After in utero Exposure to HIV Integrase Strand-Transfer Inhibitors
JAIDS Journal of Acquired Immune Deficiency Syndromes·2022· 4 cited
Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression
Nature Communications·2022· 68 citedOpen Access
THE EXPANDING PHENOTYPE OF MKL1 DEFICIENCY: FROM INFECTIOUS SUSCEPTIBILITY TO IMMUNEDYSREGULATION
SPIRE - Sciences Po Institutional REpository·2022
Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited
Journal of Clinical Immunology·2022· 6 cited
Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?
Frontiers in Immunology·2022· 14 citedOpen Access
508 Skin barrier defect and inflammation in Netherton syndrome: Lessons from a comparative study of patients and mouse models
Journal of Investigative Dermatology·2022
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Frequent Co-authors

Alain Fischer(25), Despina Moshous(15), Françoise Le Deist(14), Marina Cavazzana(13), Patrick Revy(10), Capucine Pïcard(10), Isabelle Callebaut(9), Régina de Chasseval(7), Jean‐Laurent Casanova(6), Geneviève de Saint Basile(6), Laurent Malivert(5), Patrick Nitschké(5), Apiradee Lim(5), Frédéric Rieux‐Laucat(4), Anne Durandy(4), Claire Soudais(4), Sylvain Latour(4), Luigi D. Notarangelo(4), Stéphane Blanche(4), Fabien Touzot(4)