Area of research
Molecular Biology · Immunology
Research interest
Research interests include Inflammasome and immune disorders, Immunodeficiency and Autoimmune Disorders, Autoimmune and Inflammatory Disorders Research, and Adenosine and Purinergic Signaling.
Venous and arterial thrombosis in patients with VEXAS syndrome
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency
Opportunistic Infections, Mortality Risk, and Prevention Strategies in Patients With Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic (VEXAS) Syndrome
Immune Effector Cell-Associated Hemophagocytic Lymphohistiocytosis-Like Syndrome
Spectrum of clonal hematopoiesis in VEXAS syndrome
Evaluation and Management of Deficiency of Adenosine Deaminase 2
Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS
Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients
Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2.
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases
Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features.
Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease
Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease.
CD4/CD8 T-Cell Selection Affects Chimeric Antigen Receptor (CAR) T-Cell Potency and Toxicity: Updated Results From a Phase I Anti-CD22 CAR T-Cell Trial.
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.
Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis.
Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis.
Perforin-deficient CAR T cells recapitulate late-onset inflammatory toxicities observed in patients.
Sequence‐Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in <i>ADA2</i>
Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20.
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
Deficiency of adenosine deaminase 2: Is it an elephant after all?
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease
Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2.
Treatment Strategies for Deficiency of Adenosine Deaminase 2.
Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one
Development of the autoinflammatory disease damage index (ADDI)
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)–associated inflammatory diseases