9 Result(s)

Article

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang… in Genome Medicine (2024)

Article

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs)^1,2, conferring a predisposition t...

Tom Le Voyer, Audrey V. Parent, **an Liu, Axel Cederholm, Adrian Gervais… in Nature (2023)

Article

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

We describe the first cases of germline biallelic null mutations in ARPC5, part of the Arp2/3 actin nucleator complex, in two unrelated patients presenting with recurrent and severe infections, early-onset aut...

Cristiane J. Nunes-Santos, HyeSun Kuehn, Brigette Boast… in Nature Communications (2023)

Article

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

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 I IFN, account for 15–20% of cases ...

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang… in Genome Medicine (2023)

Article

X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia

Coronavirus disease 2019 (COVID-19) exhibits a wide spectrum of clinical manifestations, ranging from asymptomatic to critical conditions. Understanding the mechanism underlying life-threatening COVID-19 is in...

Hassan Abolhassani, Ahmad Vosughimotlagh, Takaki Asano… in Journal of Clinical Immunology (2022)

Article

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

DOCK2 is a guanine-nucleotide-exchange factor for Rac proteins. Activated Rac serves various cellular functions including the reorganization of the actin cytoskeleton in lymphocytes and neutrophils and product...

Leen Moens, Mieke Gouwy, Barbara Bosch… in Journal of Clinical Immunology (2019)

Article

Erratum: Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

Nature 517, 89–93 (2015); doi:10.1038/nature13801 In this Letter, author J.-L.C. was inadvertently missing one of their affiliations; they should also have been associated with affiliation number 2 (St. Giles ...

**anqin Zhang, Dusan Bogunovic, Béatrice Payelle-Brogard… in Nature (2015)

Article

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

Identifying the genotypes underlying human disease phenotypes is a fundamental step in human genetics and medicine. High-throughput genomic technologies provide thousands of genetic variants per individual. Th...

Yuval Itan, Mark Mazel, Benjamin Mazel, Avinash Abhyankar, Patrick Nitschke… in BMC Genomics (2014)

Article

Serial Analysis of Gene Expression in Plasmodium berghei salivary gland sporozoites

The invasion of Anopheles salivary glands by Plasmodium sporozoites is an essential step for transmission of the parasite to the vertebrate host. Salivary gland sporozoites undergo a developmental programme to ex...

Isabelle Rosinski-Chupin, Thomas Chertemps, Bertrand Boisson, Sylvie Perrot… in BMC Genomics (2007)