Publications
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Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine. J Exp Med 218, (2021).
Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing. NAR Genom Bioinform 3, lqab037 (2021).
IFN-α2a Therapy in Two Patients with Inborn Errors of TLR3 and IRF3 Infected with SARS-CoV-2. J Clin Immunol 41, 26-27 (2021).
Longitudinal single-cell epitope and RNA-sequencing reveals the immunological impact of type 1 interferon autoantibodies in critical COVID-19. bioRxiv (2021). doi:10.1101/2021.03.09.434529
Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain. J Clin Immunol (2021). doi:10.1007/s10875-021-01036-0
Neutralizing Autoantibodies to Type I Interferons in COVID-19 Convalescent Donor Plasma. J Clin Immunol (2021). doi:10.1007/s10875-021-01060-0
Plasma Exchange to Rescue Patients with Autoantibodies Against Type I Interferons and Life-Threatening COVID-19 Pneumonia. J Clin Immunol 41, 536-544 (2021).
Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1. J Exp Med 218, (2021).
SARS-CoV-2 induces human plasmacytoid predendritic cell diversification via UNC93B and IRAK4. J Exp Med 218, (2021).
SARS-CoV-2 induces human plasmacytoid pre-dendritic cell diversification via UNC93B and IRAK4. bioRxiv (2021). doi:10.1101/2020.07.10.197343
SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?. J Exp Med 218, (2021).
Viral infections in humans and mice with genetic deficiencies of the type I IFN response pathway. Eur J Immunol 51, 1039-1061 (2021).
A genome-wide case-only test for the detection of digenic inheritance in human exomes. Proc Natl Acad Sci U S A 117, 19367-19375 (2020).
Human CRY1 variants associate with attention deficit/hyperactivity disorder. J Clin Invest 130, 3885-3900 (2020).
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science 370, (2020).
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency. J Allergy Clin Immunol 143, 2296-2299 (2019).
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet 48, 1071-6 (2016).
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nat Genet 47, 528-34 (2015).