Publications 2024Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitisDysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down SyndromeInborn errors of immunity: an expanding universe of disease and genetic architectureThe immune system in Down Syndrome: Autoimmunity and severe infections2023IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 HaploinsufficiencyMapping 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 cells2022Excessive negative regulation of type I interferon disrupts viral control in individuals with Down syndromeA partial form of inherited human USP18 deficiency underlies infection and inflammationEditorial overview: Four dimensions of innate immunityISG15 deficiency restricts HIV-1 infection2021Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down SyndromeDown syndrome and type I interferon: not so simpleHuman TBK1 deficiency leads to autoinflammation driven by TNF-induced cell deathChildren and SARS-CoV-2Individuals with Down syndrome hospitalized with COVID-19 have more severe disease2020Mapping 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 FunctionType I IFN is siloed in endosomesBourgeoning Scientific Research in Down SyndromeSystemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin LesionsHomozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathyDeveloping Broad-Spectrum Antivirals Using Porcine and Rhesus Macaque ModelsIncomplete penetrance in primary immunodeficiency: a skeleton in the closetJAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency2018The Goldilocks Zone of Type I IFNs: Lessons from Human Genetics2017ISG15: In Sickness and in Health2016Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndromeISG15 deficiency and increased viral resistance in humans but not miceType I Interferons in Newborns-Neurotoxicity versus Antiviral DefenseFeatured Publicationedit publication{{ name }}. . . Abstract Citation No resultsThere are no publications with the provided filters.Sort Publications ByKeyword filter: {{ filter.label }}
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C)
Excessive negative regulation of type I interferon disrupts viral control in individuals with Down syndrome
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
Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy