Area of research
Immunology · Genetics
Research interest
Research focused on Immunology and Germline, with related work in Immune system, Haploinsufficiency, Hypogammaglobulinemia. Notable publications include 'Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4', 'Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency', and 'Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome'.
Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency
Germline mutations in a G protein identify signaling cross-talk in T cells
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling
Immunogenetics associated with severe coccidioidomycosis
A Randomized, Placebo-controlled, Double-blind Pilot Study of Single-dose Humanized Anti-IL5 Antibody (Reslizumab) for the Reduction of Eosinophilia Following Diethylcarbamazine Treatment of <i>Loa loa</i> Infection
Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies
Immune dysregulation in human subjects with heterozygous germline mutations in <i>CTLA4</i>
Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency
Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans