Publications

2025

An mRNA-based broad-spectrum antiviral inspired by ISG15 deficiency protects against viral infections in vitro and in vivo

Monoallelic expression can govern penetrance of inborn errors of immunity

2024

Racial Disparities in the Diagnosis of Inborn Errors of Immunity

A non-canonical function of OAS1 to combat viral and bacterial infections

Traffic on the TLR expressway

Preprint: Broad-spectrum RNA antiviral inspired by ISG15 -/- deficiency

Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis

Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome

Inborn errors of immunity: an expanding universe of disease and genetic architecture

The immune system in Down Syndrome: Autoimmunity and severe infections

2023

IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency

Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C)

Autoimmunity in Down's syndrome via cytokines, CD4 T cells and CD11c+ B cells

2022

Excessive negative regulation of type I interferon disrupts viral control in individuals with Down syndrome

A partial form of inherited human USP18 deficiency underlies infection and inflammation

Editorial overview: Four dimensions of innate immunity

ISG15 deficiency restricts HIV-1 infection

2021

Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome

Down syndrome and type I interferon: not so simple

Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death

Children and SARS-CoV-2

Individuals with Down syndrome hospitalized with COVID-19 have more severe disease

2020

Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C)

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function

Type I IFN is siloed in endosomes

Bourgeoning Scientific Research in Down Syndrome

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

Developing Broad-Spectrum Antivirals Using Porcine and Rhesus Macaque Models

Incomplete penetrance in primary immunodeficiency: a skeleton in the closet

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