Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths
…, R Arrestier, I Boudhabhay, H Baris-Feldman… - Science …, 2021 - science.org
Circulating autoantibodies (auto-Abs) neutralizing high concentrations (10 ng/ml; in plasma
diluted 1:10) of IFN-α and/or IFN-ω are found in about 10% of patients with critical COVID-19 …
diluted 1:10) of IFN-α and/or IFN-ω are found in about 10% of patients with critical COVID-19 …
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies
…, I Boudhabhay, H Baris-Feldman… - Proceedings of the …, 2022 - National Acad Sciences
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection fatality rate (IFR)
doubles with every 5 y of age from childhood onward. Circulating autoantibodies neutralizing …
doubles with every 5 y of age from childhood onward. Circulating autoantibodies neutralizing …
[HTML][HTML] Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
…, MF Alosaimi, FM Alsohime, H Baris-Feldman… - Genome medicine, 2023 - Springer
Background We previously reported that impaired type I IFN activity, due to inborn errors of
TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type …
TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type …
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group
Background Constitutional mismatch repair deficiency syndrome (CMMRD) is the most
aggressive cancer predisposition syndrome associated with multiorgan cancers, often presenting …
aggressive cancer predisposition syndrome associated with multiorgan cancers, often presenting …
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
…, H Kurumizaka, BD Gelb, H Baris Feldman… - Genetics in …, 2020 - nature.com
Purpose Sifrim–Hitz–Weiss syndrome (SIHIWES) is a recently described multisystemic
neurodevelopmental disorder caused by de novo variants in CHD4. In this study, we investigated …
neurodevelopmental disorder caused by de novo variants in CHD4. In this study, we investigated …
Corin and left atrial cardiomyopathy, hypertension, arrhythmia, and fibrosis
H Baris Feldman, C Chai Gadot, D Zahler… - … England Journal of …, 2023 - Mass Medical Soc
Two siblings presented with cardiomyopathy, hypertension, arrhythmia, and fibrosis of the left
atrium. Each had a homozygous null variant in CORIN, the gene encoding atrial natriuretic …
atrium. Each had a homozygous null variant in CORIN, the gene encoding atrial natriuretic …
Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity
Since the arrival of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in
December 2019, its characterization as a novel human pathogen, and the resulting coronavirus …
December 2019, its characterization as a novel human pathogen, and the resulting coronavirus …
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results
…, SP Shankar, H Baris Feldman… - American journal of …, 2021 - Wiley Online Library
Eliglustat, an oral substrate reduction therapy, is approved for eligible adults with Gaucher
disease type 1. In the Phase 3 ENGAGE trial of previously untreated adults with Gaucher …
disease type 1. In the Phase 3 ENGAGE trial of previously untreated adults with Gaucher …
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features
Intellectual disability encompasses a wide spectrum of neurodevelopmental disorders, with
many linked genetic loci. However, the underlying molecular mechanism for more than 50% …
many linked genetic loci. However, the underlying molecular mechanism for more than 50% …
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
…, T Ripperger, AA Azizi, H Baris Feldman… - Human …, 2019 - Wiley Online Library
Constitutional mismatch repair deficiency (CMMRD) is caused by germline pathogenic
variants in both alleles of a mismatch repair gene. Patients have an exceptionally high risk of …
variants in both alleles of a mismatch repair gene. Patients have an exceptionally high risk of …