Publications by authors named "Elise M N Ferre"

Article Synopsis
  • APECED is a serious genetic autoimmune disorder linked to variants in the autoimmune regulator (AIRE) gene, with 16% of evaluated patients lacking known harmful variants, most of whom are of Puerto Rican descent.
  • Researchers discovered a deep intronic variant (c.1504-818 G>A) in these patients that causes a cryptic splice site leading to a dysfunctional protein through pseudoexon inclusion.
  • They developed an antisense oligonucleotide (ASO) that corrected this genetic issue, demonstrating the potential for targeted treatments in APECED patients.
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  • Cutaneous protothecosis is an uncommon infection that affects the skin and can spread systemically, requiring long-term treatment with medications that may have harmful side effects.
  • The case study focuses on a patient whose skin infection did not respond to standard triazole treatment.
  • The patient showed significant improvement after being treated with a new oral formulation of amphotericin B, which was effective without causing any toxicity.
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  • Autoimmune polyendocrine syndrome type 1 (APS-1) is a severe genetic disorder resulting from AIRE deficiency, leading to self-reactive T cells causing autoimmune damage in various organs.
  • The study investigated the role of interferon-γ in APS-1 by analyzing patient samples and conducting experiments with mice, finding that high levels of interferon-γ correlate with disease activity.
  • Treatment with the JAK inhibitor ruxolitinib significantly reduced interferon-γ levels and improved symptoms in APS-1 patients, suggesting that targeting this pathway may be a viable therapeutic approach.
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Article Synopsis
  • - APECED is a rare autoimmune disease often caused by mutations in the autoimmune regulator gene, leading to multiple symptoms.
  • - The disease traditionally includes chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency, but additional symptoms like APECED rash and intestinal dysfunction suggest a broader clinical spectrum.
  • - This report details a case of a 10-month-old girl who exhibited APECED rash and recurrent candidiasis as the initial signs of the disease, highlighting the importance of recognizing early symptoms for timely diagnosis.
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  • An opportunistic mold can lead to lung infections in people with weakened immune systems, often treated with triazole drugs.
  • Lupus nephritis, a serious kidney problem in lupus patients, requires treatments that can interact negatively with triazoles, leading to increased toxicity.
  • The case study highlights a patient with both pneumonia and lupus nephritis who was effectively treated using posaconazole and echinocandin interruptions, allowing safe cyclophosphamide therapy that improved both lung and kidney health.
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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited disorder of immunity which leads to increased risk for mucocutaneous candidiasis and multiorgan autoimmune disease. While alopecia areata (AA) has been described in some patients with APECED, the extent and timing of AA is not well established and extent and timing of concomitant vitiligo and hypothyroidism has not been described. We evaluated an APECED cohort followed at the National Institutes of Health for the timing of development of associated diseases.

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Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator () gene. More recently, dominant-negative mutations within the PHD1, PHD2, and SAND domains have been associated with an incompletely penetrant milder phenotype with later onset familial clustering, often masquerading as organ-specific autoimmunity. Patients with immunodeficiencies or autoimmunity where genetic analyses revealed heterozygous mutations were included in the study and the dominant-negative effects of the mutations were functionally assessed .

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Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and poikiloderma in association with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) are rare inherited syndromes resulting from biallelic pathogenic variants in and heterozygous pathogenic variants in , respectively. The clinical diagnosis of APECED and POIKTMP rely on the development of two or more characteristic disease manifestations that define the corresponding syndromes. We discuss the shared and distinct clinical, radiographic, and histological features between APECED and POIKTMP presented in our patient case and describe his treatment response to azathioprine for POIKTMP-associated hepatitis, myositis, and pneumonitis.

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Autoimmune diseases vary in the magnitude and diversity of autoantibody profiles, and these differences may be a consequence of different types of breaks in tolerance. Here, we compared the disparate autoimmune diseases autoimmune polyendocrinopathy-candidiasis-ecto-dermal dystrophy (APECED), systemic lupus erythematosus (SLE), and Sjogren's syndrome (SjS) to gain insight into the etiology of breaks in tolerance triggering autoimmunity. APECED was chosen as a prototypical monogenic disease with organ-specific pathology while SjS and SLE represent polygenic autoimmunity with focal or systemic disease.

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Phage immunoprecipitation sequencing (PhIP-seq) allows for unbiased, proteome-wide autoantibody discovery across a variety of disease settings, with identification of disease-specific autoantigens providing new insight into previously poorly understood forms of immune dysregulation. Despite several successful implementations of PhIP-seq for autoantigen discovery, including our previous work (Vazquez et al., 2020), current protocols are inherently difficult to scale to accommodate large cohorts of cases and importantly, healthy controls.

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Candida albicans causes debilitating, often azole-resistant, infections in patients with chronic mucocutaneous candidiasis (CMC). Amphotericin B (AMB) resistance is rare, but AMB use is limited by parenteral administration and nephrotoxicity. In this study, we evaluated cochleated AMB (CAMB), a new oral AMB formulation, in mouse models of oropharyngeal candidiasis (OPC) and vulvovaginal candidiasis (VVC) and in patients with azole-resistant CMC.

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Article Synopsis
  • APECED is a rare autoimmune disorder caused by a deficiency in the AIRE protein, leading to problems in immune tolerance and affecting various body tissues, including the digestive system.
  • A study reviewed the effects of mycophenolate, an immunomodulatory drug used to manage APECED symptoms, in a group of 104 patients.
  • Findings showed that 40% of the mycophenolate-treated patients developed a type of colitis that resembles both inflammatory bowel disease and graft-versus-host disease, indicating the need for clinicians to be vigilant about this potential complication.
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  • Researchers developed a new technique called rapid extracellular antigen profiling (REAP) to efficiently find autoantibodies that target extracellular proteins in the body, which are important for understanding autoimmune diseases.
  • The REAP method was tested on samples from patients with autoimmune polyglandular syndrome type 1, successfully identifying known and new autoantibodies linked to the disease.
  • Further testing with patients suffering from systemic lupus erythematosus revealed various autoantibodies correlated with disease severity and specific symptoms, showcasing REAP's potential to enhance understanding of autoimmune conditions and patient health.
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Phage Immunoprecipitation-Sequencing (PhIP-Seq) allows for unbiased, proteome-wide autoantibody discovery across a variety of disease settings, with identification of disease-specific autoantigens providing new insight into previously poorly understood forms of immune dysregulation. Despite several successful implementations of PhIP-Seq for autoantigen discovery, including our previous work (Vazquez et al. 2020), current protocols are inherently difficult to scale to accommodate large cohorts of cases and importantly, healthy controls.

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Binding levels and neutralization activity of anti-type 1 interferon autoantibodies peaked during acute coronavirus disease 2019 and markedly decreased thereafter. Most patients maintained some ability to neutralize type 1 interferon into convalescence despite lower levels of binding immunoglobulin G. Identifying these autoantibodies in healthy individuals before the development of critical viral disease may be challenging.

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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type-1 (APS-1), is a rare monogenic autoimmune disease caused by loss-of-function mutations in the autoimmune regulator () gene. AIRE deficiency impairs immune tolerance in the thymus and results in the peripheral escape of self-reactive T lymphocytes and the generation of several cytokine- and tissue antigen-targeted autoantibodies. APECED features a classic triad of characteristic clinical manifestations consisting of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and primary adrenal insufficiency (Addison's disease).

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Puel and Casanova and Kisand . challenge our conclusions that interferonopathy and not IL-17/IL-22 autoantibodies promote candidiasis in autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy. We acknowledge that conclusive evidence for causation is difficult to obtain in complex human diseases.

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Patients with the monogenic immune dysregulatory syndrome autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), which is caused by loss-of-function mutations in the autoimmune regulator () gene, uniformly carry neutralizing autoantibodies directed against type-I interferons (IFNs) and many develop autoimmune pneumonitis, both of which place them at high risk for life-threatening COVID-19 pneumonia. Bamlanivimab and etesevimab are monoclonal antibodies (mAbs) that target the SARS-CoV-2 spike protein and block entry of SARS-CoV-2 in host cells. The use of bamlanivimab and etesevimab early during infection was associated with reduced COVID-19-associated hospitalization and death in patients at high risk for progressing to severe disease, which led the US Food and Drug Administration to issue an emergency use authorization for their administration in non-hypoxemic, non-hospitalized high-risk patients.

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Background: SARS-CoV-2 vaccination is recommended in patients with inborn errors of immunity (IEIs); however, little is known about immunogenicity and safety in these patients.

Objective: We sought to evaluate the impact of genetic diagnosis, age, and treatment on antibody response to COVID-19 vaccine and related adverse events in a cohort of patients with IEIs.

Methods: Plasma was collected from 22 health care worker controls, 81 patients with IEIs, and 2 patients with thymoma; the plasma was collected before immunization, 1 to 6 days before the second dose of mRNA vaccine, and at a median of 30 days after completion of the immunization schedule with either mRNA vaccine or a single dose of Johnson & Johnson's Janssen vaccine.

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We present a severe case of progressive autoimmune pneumonitis requiring surgical intervention in a patient with the monogenic syndrome, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). APECED is caused by loss-of-function mutations in the autoimmune regulator () gene, which lead to impaired central immune tolerance and autoimmune organ destruction including pneumonitis, an underrecognized, life-threatening complication. When clinicians evaluate patients with pneumonitis, recurrent mucosal candidiasis, and autoimmunity, APECED should be considered in the differential.

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Objective: Hypoparathyroidism has heterogeneous genetic and acquired etiologies with a broad spectrum of severity. Herein we describe the clinical outcomes of the largest cohort of hypoparathyroid patients reported to date, who were followed over 27-years.

Design: Pooled analysis of current and past studies describing the differential responses to PTH 1-34 injections vs conventional therapy among the varied hypoPT etiologies.

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