Publications

2025

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

JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency

Featured Publication

edit publication

{{ name }}

. . . Abstract Citation

No results

There are no publications with the provided filters.

Sort Publications By