Publications

2026

Familial Pulmonary Alveolar Proteinosis and Type I Interferonopathy by Mutation of STAT2 (TIMS2)

Clinical considerations for immune dysregulation and immunodeficiency in Down syndrome

Functional studies in a neonate with a DOCK11 VUS guide clinical care

C5 inhibition restores B cell homeostasis and humoral immunity in CHAPLE disease patients

The Landscape of Genetically Driven Immune Disorders

How I Treat: Immune dysregulation in Down syndrome.

The seminal effect of one-two IFNGR1 genetic punch from 30 years ago

Cooperative molecular mimicry drives prolonged autoinflammation in multisystem inflammatory syndrome in children

Rethinking disomy: Autosomal expression bias

Human ISG15 Deficiency Unveils Impaired Healing of Ulcerations via Type I Interferon-Mediated Fibrosis

Human TBK1 Deficiency: An Expanded Spectrum from Autoinflammation to Viral Encephalitis

Cytokine-driven Janus kinase signal transducer and activator of transcription pathway hyperactivity predicts disease severity in pediatric FSGS.

Type I interferonopathy in ATR-X syndrome reveals a transcriptional role for cGAS.

2025

Markers of Immune Dysregulation in Pediatric Patients with Severe Bronchiolitis

Targeting autoreactive B cells in SLE with anti-9G4 synthetic immune receptor T cells.

Dadaism catches up with DADA2

Incomplete Penetrance in Inborn Errors of Immunity: A Skeleton in the Closet, The Sequel

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

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

Featured Publication

edit publication

{{ name }}

. . . Abstract Citation

No results

There are no publications with the provided filters.

Sort Publications By