Tom Le Voyer
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View article: A <i>WAS</i> promoter variant underlying Wiskott-Aldrich syndrome in two kindreds
A <i>WAS</i> promoter variant underlying Wiskott-Aldrich syndrome in two kindreds Open
We report the same ultra-rare pathogenic noncoding single-nucleotide variant in the promoter of WAS in four male patients from two unrelated kindreds with features of Wiskott-Aldrich syndrome.
View article: Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity
Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity Open
Clinical laboratories searching for pathogenic variants focus mostly on the protein-coding region and corresponding essential splicing sites. Screening for variants in intronic regions requires dedicated bioinformatics tools and detailed e…
View article: Two different forms of inherited human TCRα chain deficiency
Two different forms of inherited human TCRα chain deficiency Open
Genetic defects that result in the absence of all T cells, including both αβ and γδ T cells, are classified as severe combined immunodeficiency (SCID), a life-threatening condition requiring immediate hematopoietic stem cell transplantatio…
View article: Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans
Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans Open
IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal encasement syndrome in humans, fatal in utero, while an impa…
View article: Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation Open
Patients heterozygous for germline CBL loss-of-function (LOF) variants can develop myeloid malignancy, autoinflammation, or both, if some or all of their leukocytes become homozygous for these variants through somatic loss of heterozygosit…
View article: Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases Open
Human inborn errors of thymic T cell tolerance underlie the production of autoantibodies (auto-Abs) neutralizing type I IFNs, which predispose to severe viral diseases. We analyze 131 female patients with X-linked dominant incontinentia pi…
View article: IL-7–dependent and –independent lineages of IL-7R–dependent human T cells
IL-7–dependent and –independent lineages of IL-7R–dependent human T cells Open
Infants with biallelic IL7R loss-of-function variants have severe combined immune deficiency (SCID) characterized by the absence of autologous T lymphocytes, but normal counts of circulating B and NK cells (T-B+NK+ SCID). We report 6 adult…
View article: Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalitis in ∼10% of patients
Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalitis in ∼10% of patients Open
Tick-borne encephalitis (TBE) virus (TBEV) is transmitted to humans via tick bites. Infection is benign in >90% of the cases but can cause mild (<5%), moderate (<4%), or severe (<1%) encephalitis. We show here that ∼10% of pati…
View article: Tuberculosis in otherwise healthy adults with inherited TNF deficiency
Tuberculosis in otherwise healthy adults with inherited TNF deficiency Open
Severe defects in human IFNγ immunity predispose individuals to both Bacillus Calmette–Guérin disease and tuberculosis, whereas milder defects predispose only to tuberculosis 1 . Here we report two adults with recurrent pulmonary tuberculo…
View article: Human inherited CCR2 deficiency underlies progressive polycystic lung disease
Human inherited CCR2 deficiency underlies progressive polycystic lung disease Open
View article: Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation
Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation Open
IKKα, encoded by CHUK , is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. Absence of IKKα cause fetal encasement syndrome in human, fatal in utero, while an impaired …
View article: Individuals with <i>JAK1</i> variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Individuals with <i>JAK1</i> variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis Open
Inborn errors of immunity lead to autoimmunity, inflammation, allergy, infection, and/or malignancy. Disease-causing JAK1 gain-of-function (GoF) mutations are considered exceedingly rare and have been identified in only four families. Here…
View article: Role of IL-27 in Epstein–Barr virus infection revealed by IL-27RA deficiency
Role of IL-27 in Epstein–Barr virus infection revealed by IL-27RA deficiency Open
View article: Neutralizing IFN-γ autoantibodies are rare and pathogenic in HLA-DRB1*15:02 or 16:02 individuals
Neutralizing IFN-γ autoantibodies are rare and pathogenic in HLA-DRB1*15:02 or 16:02 individuals Open
BACKGROUNDWeakly virulent environmental mycobacteria (EM) can cause severe disease in HLA-DRB1*15:02 or 16:02 adults harboring neutralizing anti-IFN-γ autoantibodies (nAIGAs). The overall prevalence of nAIGAs in the general population is u…
View article: Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency Open
Purpose Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Twenty-two genes with products involved in the production of, or response to, IFN-γ and variants of which underlie MSMD have been id…
View article: Human autoantibodies neutralizing type I IFNs: From 1981 to 2023
Human autoantibodies neutralizing type I IFNs: From 1981 to 2023 Open
Summary Human autoantibodies (auto‐Abs) neutralizing type I IFNs were first discovered in a woman with disseminated shingles and were described by Ion Gresser from 1981 to 1984. They have since been found in patients with diverse condition…
View article: Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children Open
We found that 19 (10.4%) of 183 unvaccinated children hospitalized for COVID-19 pneumonia had autoantibodies (auto-Abs) neutralizing type I IFNs (IFN-α2 in 10 patients: IFN-α2 only in three, IFN-α2 plus IFN-ω in five, and IFN-α2, IFN-ω plu…
View article: Human inherited CCR2 deficiency underlies progressive polycystic lung disease
Human inherited CCR2 deficiency underlies progressive polycystic lung disease Open
View article: Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency Open
View article: Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria
Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria Open
View article: Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients
Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients Open
Mosquito-borne West Nile virus (WNV) infection is benign in most individuals but can cause encephalitis in <1% of infected individuals. We show that ∼35% of patients hospitalized for WNV disease (WNVD) in six independent cohorts from th…
View article: Autoantibodies Neutralizing Type I IFNs in the Bronchoalveolar Lavage of at Least 10% of Patients During Life-Threatening COVID-19 Pneumonia
Autoantibodies Neutralizing Type I IFNs in the Bronchoalveolar Lavage of at Least 10% of Patients During Life-Threatening COVID-19 Pneumonia Open
Autoantibodies (auto-Abs) neutralizing type I interferons (IFNs) are found in the blood of at least 15% of unvaccinated patients with life-threatening COVID-19 pneumonia. We report here the presence of auto-Abs neutralizing type I IFNs in …
View article: Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients
Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients Open
Unusual viral skin infections might be the first clinical manifestation in children with an inborn error of immunity (IEI). We performed a prospective study from 1 October 2017 to 30 September 2021, at the Department of Pediatric Infectiou…
View article: Impaired thymic AIRE expression underlies autoantibodies against type I IFNs in humans with inborn errors of the alternative NF-κB pathway
Impaired thymic AIRE expression underlies autoantibodies against type I IFNs in humans with inborn errors of the alternative NF-κB pathway Open
View article: Impaired thymic AIRE expression underlies autoantibodies against type I IFNs in humans with inborn errors of the alternative NF-kB pathway
Impaired thymic AIRE expression underlies autoantibodies against type I IFNs in humans with inborn errors of the alternative NF-kB pathway Open
Patients with inborn errors of the alternative NF-κB pathway have low thymic AIRE expression, leading to the development of auto-Abs neutralizing type I IFNs, and severe viral diseases.
View article: Inflammatory markers and auto-Abs to type I IFNs in COVID-19 convalescent plasma cohort study
Inflammatory markers and auto-Abs to type I IFNs in COVID-19 convalescent plasma cohort study Open
View article: Autoantibodies against type I IFNs in patients with critical influenza pneumonia
Autoantibodies against type I IFNs in patients with critical influenza pneumonia Open
Autoantibodies neutralizing type I interferons (IFNs) can underlie critical COVID-19 pneumonia and yellow fever vaccine disease. We report here on 13 patients harboring autoantibodies neutralizing IFN-α2 alone (five patients) or with IFN-ω…
View article: Lower disease activity but higher risk of severe COVID-19 and herpes zoster in patients with systemic lupus erythematosus with pre-existing autoantibodies neutralising IFN-α
Lower disease activity but higher risk of severe COVID-19 and herpes zoster in patients with systemic lupus erythematosus with pre-existing autoantibodies neutralising IFN-α Open
View article: Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs
Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs Open
Life-threatening “breakthrough” cases of critical COVID-19 are attributed to poor or waning antibody (Ab) response to SARS-CoV-2 vaccines in individuals already at risk. Preexisting auto-Abs neutralizing type I IFNs underlie at least 15% o…
View article: Chronic Granulomatous Disease-Like Presentation of a Child with Autosomal Recessive PKCδ Deficiency
Chronic Granulomatous Disease-Like Presentation of a Child with Autosomal Recessive PKCδ Deficiency Open