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The Jak-STAT signaling pathway is required but not sufficient for the antiviral response of drosophila
TLDR
Results indicate that in addition to Toll and Imd, a third, evolutionary conserved innate immunity pathway functions in drosophila and counters viral infection. Expand
TLR3 Deficiency in Patients with Herpes Simplex Encephalitis
TLDR
Human TLR3 appears to be redundant in host defense to most microbes but is vital for natural immunity to HSV-1 in the CNS, which suggests that neurotropic viruses have contributed to the evolutionary maintenance ofTLR3. Expand
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
Whole-exome sequencing reveals activating STAT1 mutations in some patients with autosomal dominant chronic mucocutaneous candidiasis disease.
Toll-related receptors and the control of antimicrobial peptide expression in Drosophila.
TLDR
Six additional Toll-related genes (Toll-3 to Toll-8) are described in Drosophila in addition to 18-wheeler, finding that only Toll and Toll-5 can activate the drosomycin promoter in transfected cells, thus demonstrating specificity at the level of the Toll/IL-1R homology domain. Expand
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
TLDR
A means by which individuals at highest risk of life-threatening COVID-19 can be identified is identified, and the hypothesis that neutralizing auto-Abs against type I IFNs may underlie critical CO VID-19 is tested. Expand
Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency
TLDR
A genetic etiology for HSE is elucidated in two children with autosomal recessive deficiency in the intracellular protein UNC-93B, resulting in impaired cellular interferon-α/β and -λ antiviral responses. Expand
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
TLDR
The COVID Human Genetic Effort established to test the general hypothesis that life-threatening COVID-19 in some or most patients may be caused by monogenic inborn errors of immunity to SARS-CoV-2 with incomplete or complete penetrance finds an enrichment in variants predicted to be loss-of-function (pLOF), with a minor allele frequency <0.001. Expand
Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency.
TLDR
Interleukin-12 (IL-12) receptor deficiency was found in otherwise healthy individuals with mycobacterial infections, and mature granulomas were seen, surrounded by T cells and centered with epithelioid and multinucleated giant cells, yet reduced IFN-gamma concentrations were found to be secreted by activated natural killer and T cells. Expand
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation
TLDR
It is shown here that ISG15-deficient patients also display unanticipated cellular, immunological and clinical signs of enhanced IFN-α/β immunity, reminiscent of the Mendelian autoinflammatory interferonopathies Aicardi–Goutières syndrome and spondyloenchondrodysplasia. Expand
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.
TLDR
Two unrelated infants homozygous with respect to mutated STAT1 alleles are reported, both infants suffered from mycobacterial disease, but unlike individuals with IFN-gammaR deficiency, both died of viral disease. Expand
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