Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

A Prevalent CXCR3+ Phenotype of Circulating Follicular Helper T Cells Indicates Humoral Dysregulation in Children with Down Syndrome

(2020) Giorgio Ottaviano et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Trisomy 21 dysregulates T cell lineages toward an autoimmunity-prone state associated with interferon hyperactivity

(2019) Paula Araya et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Detection of interferon alpha protein reveals differential levels and cellular sources in disease

(2017) Mathieu P. Rodero et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Interferon Lambda: Modulating Immunity in Infectious Diseases

(2017) Mohammedyaseen Syedbasha et al.   Frontiers in Immunology

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

(2016) J. Toubiana et al.   BLOOD

AIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies

(2016) Steffen Meyer et al.   CELL

Estimation of the number of people with Down syndrome in the United States

(2016) Gert de Graaf et al.   GENETICS IN MEDICINE

Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

(2016) Mathieu P. Rodero et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Organoids as an in vitro model of human development and disease

(2016) Aliya Fatehullah et al.   NATURE CELL BIOLOGY

Trisomy 21 consistently activates the interferon response

(2016) Kelly D Sullivan et al.   eLife

Characterization of Staphylococcus aureus infections in children with Down syndrome

(2015) Jeffrey N. Johnston et al.   JOURNAL OF INFECTION AND CHEMOTHERAPY

Domains of genome-wide gene expression dysregulation in Down’s syndrome

(2014) Audrey Letourneau et al.   NATURE

Health Conditions and Their Impact among Adolescents and Young Adults with Down Syndrome

(2014) Terri J. Pikora et al.   PLoS One

Prevalence of community acquired infections in down syndrome children: a single center study

(2013) Waleed Eldars et al.   Brazilian Journal of Infectious Diseases

Systems Scale Interactive Exploration Reveals Quantitative and Qualitative Differences in Response to Influenza and Pneumococcal Vaccines

(2013) Gerlinde Obermoser et al.   IMMUNITY

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

(2013) Gillian I Rice et al.   LANCET NEUROLOGY

Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis

(2012) Anne Puel et al.   Current Opinion in Allergy and Clinical Immunology

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

(2012) Xiao-Fei Kong et al.   HUMAN MOLECULAR GENETICS

Infections and immunodeficiency in Down syndrome

(2011) G. Ram et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

(2011) Frank L. van de Veerdonk et al.   NEW ENGLAND JOURNAL OF MEDICINE

A novel form of cell type-specific partial IFN-γR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

(2009) Xiao-Fei Kong et al.   HUMAN MOLECULAR GENETICS

A Modular Analysis Framework for Blood Genomics Studies: Application to Systemic Lupus Erythematosus

(2008) Damien Chaussabel et al.   IMMUNITY