Area of research
Immunology · Physiology
Research interest
Research interests include Immunodeficiency and Autoimmune Disorders, Immune Cell Function and Interaction, T-cell and B-cell Immunology, and Asthma and respiratory diseases.
Monoallelic expression can govern penetrance of inborn errors of immunity
Characterizing Long COVID Symptoms During Early Childhood
Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
Postacute Sequelae of SARS-CoV-2 in Children
Characterizing Long COVID in Children and Adolescents
Mast cell activation syndrome: Current understanding and research needs
Individuals with <i>JAK1</i> variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Researching COVID to enhance recovery (RECOVER) pediatric study protocol: Rationale, objectives and design
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases
Management of Atopy with Dupilumab and Omalizumab in CADINS Disease
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection
Sensory neurons promote immune homeostasis in the lung
Studying severe long COVID to understand post-infectious disorders beyond COVID-19
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations
Genetically defined individual reference ranges for tryptase limit unnecessary procedures and unmask myeloid neoplasms
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with <i>TRAF3</i> mutations
Potential mechanisms of anaphylaxis to COVID-19 mRNA vaccines
Clinical relevance of inherited genetic differences in human tryptases
Distinct antibody responses to SARS-CoV-2 in children and adults across the COVID-19 clinical spectrum
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection
Dominant-negative mutations in human <i>IL6ST</i> underlie hyper-IgE syndrome
Multiplexed Functional Assessment of Genetic Variants in CARD11
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease
Clonally expanded γδ T cells protect against Staphylococcus aureus skin reinfection