Caroline Deswarte
A5026810525- Immunodeficiency and Autoimmune Disorders
- Mycobacterium research and diagnosis
- Tuberculosis Research and Epidemiology
- Immune Cell Function and Interaction
- Acute Myeloid Leukemia Research
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Blood disorders and treatments
- T-cell and B-cell Immunology
- Acute Lymphoblastic Leukemia research
- Autoimmune and Inflammatory Disorders Research
- Whipple's Disease and Interleukins
- Immune responses and vaccinations
- Cell Adhesion Molecules Research
- Eosinophilic Disorders and Syndromes
- interferon and immune responses
- Immune Response and Inflammation
- Platelet Disorders and Treatments
- Chronic Myeloid Leukemia Treatments
- Parvovirus B19 Infection Studies
- RNA modifications and cancer
- Infectious Diseases and Tuberculosis
- Helicobacter pylori-related gastroenterology studies
- Chronic Lymphocytic Leukemia Research
- Legionella and Acanthamoeba research
Centre de Recherche Saint-Antoine
2011-2024
Hôpital Saint-Antoine
2012-2024
Inserm
2015-2024
Sorbonne Université
2010-2024
Assistance Publique – Hôpitaux de Paris
2011-2024
Institut des Maladies Génétiques Imagine
2014-2024
Université Paris Cité
2014-2024
Hospital for Sick Children
2024
Institut de Génétique Humaine
2014-2019
Délégation Paris 5
2016-2018
A surprising immune twist for RORC The system needs its full array of soldiers—including cells and the molecules they secrete—to optimally protect host. When this isn't case, minor infections can become chronic or even deadly. Markle et al. report discovery seven individuals carrying loss-of-function mutations in RORC, which encodes transcription factors RORγ RORγT. These lacked that produce cytokine interleukin-17, causing them to suffer from candidiasis. RORC-deficient also exhibited...
Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families four different ethnic groups. These were homozygous for one null mutations, that seen P1. They displayed mycobacterial and/or infections, but no HIES. All eight impaired...
Homozygosity for the P1104A missense variant of TYK2 Janus kinase is common monogenic etiology primary tuberculosis.
Hundreds of patients with autosomal recessive, complete IL-12p40 or IL-12Rβ1 deficiency have been diagnosed over the last 20 years. They typically suffer from invasive mycobacteriosis and, occasionally, mucocutaneous candidiasis. Susceptibility to these infections is thought be due impairments IL-12-dependent IFN-γ immunity and IL-23-dependent IL-17A/IL-17F immunity, respectively. We report here IL-12Rβ2 IL-23R deficiency, lacking responses IL-12 IL-23 only, all whom, unexpectedly, display...
UNC93B1 is a transmembrane domain protein mediating the signaling of endosomal Toll-like receptors (TLRs). We report five families harboring rare missense substitutions (I317M, G325C, L330R, R466S, and R525P) in causing systemic lupus erythematosus (SLE) or chilblain (CBL) as either autosomal dominant recessive traits. As for D34A mutation murine lupus, we recorded gain TLR7 and, to lesser extent, TLR8 activity with I317M (in vitro) G325C vitro ex vivo) variants context SLE. Contrastingly,...
Abstract Aquaporins, proteins that enhance the permeability of biological membranes to water, are widely distributed in living organisms. They 26- 29-kD belong major intrinsic protein (MIP) family channels. By searching Arabidopsis thaliana expressed sequence tag database and by using polymerase chain reaction with oligonucleotides conserved plant aquaporin domains, we identified 23 MIP genes. Eight these had been previously as active aquaporins, two additional ones now reported have...
Point mutations in the 5′ UTR of ankyrin repeat domain 26 (ANKRD26) are associated with familial thrombocytopenia 2 (THC2) and a predisposition to leukemia. Here, we identified underlying mechanisms ANKRD26-associated thrombocytopenia. Using megakaryocytes (MK) isolated from THC2 patients healthy subjects, demonstrated that THC2-associated ANKRD26 resulted loss runt-related transcription factor 1 (RUNX1) friend leukemia integration (FLI1) binding. RUNX1 FLI1 binding at subjects led silencing...
Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by a selective predisposition clinical caused the Bacille Calmette-Guérin (BCG) vaccine and environmental mycobacteria. The known genetic etiologies of MSMD are inborn errors IFN-γ immunity due mutations 15 genes controlling production or response IFN-γ. Since first MSMD-causing were reported in 1996, biallelic encoding receptor 1 (IFN-γR1) IFN-γR2 have been many patients diverse ancestries. Surprisingly, gene cytokine...
Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding p40phox subunit phagocyte NADPH oxidase, have been described in only 1 patient. We report on 24 p40phox-deficient patients from 12 additional families 8 countries. These display different in-frame or out-of-frame that are homozygous 11 and compound heterozygous another. When overexpressed NB4 neutrophil-like cells EBV-transformed B vitro, mutant alleles were found to be LOF, with exception p.R58C c.120_134del alleles,...
Combined immunodeficiency (CID) refers to inborn errors of human T cells that also affect B because the cell deficit or an additional cell–intrinsic deficit. In this study, we report six patients from three unrelated families with biallelic loss-of-function mutations in RLTPR, mouse orthologue which is essential for CD28 signaling. The have cutaneous and pulmonary allergy, as well a variety bacterial fungal infectious diseases, including invasive tuberculosis mucocutaneous candidiasis....
Human USP18 is an interferon (IFN)-stimulated gene product and a negative regulator of type I IFN (IFN-I) signaling. It also removes covalently linked ISG15 from proteins, in process called deISGylation. In turn, prevents being degraded by the proteasome. Autosomal recessive complete deficiency life-threatening infancy owing to uncontrolled IFN-I–mediated autoinflammation. We report three Moroccan siblings with autoinflammation mycobacterial disease who are homozygous for new variant....
We describe humans with rare biallelic loss-of-function PTCRA variants impairing pre-α T cell receptor (pre-TCRα) expression. Low circulating naive αβ counts at birth persisted over time, normal memory and high γδ counts. Their TCRα repertoire was biased, which suggests that noncanonical thymic differentiation pathways can rescue development. Only a minority of these individuals were sick, infection, lymphoproliferation, and/or autoimmunity. also report 1 in 4000 from the Middle East South...
FMS-related tyrosine kinase 3 ligand (FLT3L), encoded by FLT3LG, is a hematopoietic factor essential for the development of natural killer (NK) cells, B and dendritic cells (DCs) in mice. We describe three humans homozygous loss-of-function FLT3LG variant with history various recurrent infections, including severe cutaneous warts. The patients' bone marrow (BM) was hypoplastic, low levels progenitors, particularly myeloid cell precursors. Counts monocytes, DCs were blood, whereas other blood...
Abstract An extensive search for maize (Zea mays) genes involved in cell wall biosynthesis and assembly has been performed 735 sequences have centralized a database, MAIZEWALL (http://www.polebio.scsv.ups-tlse.fr/MAIZEWALL). contains bioinformatic analysis each entry gene expression data that are accessible via user-friendly interface. A macroarray composed of gene-specific tag was also constructed to monitor global wall-related different organs during internode development. By using this...
Most humans are exposed to
Abstract Clonal hematopoiesis (CH) of indeterminate potential has been described in blood samples from large series patients. Its prevalence and consequences are still not well understood because sequencing methods vary most studies were performed cohorts comprising individuals with nonhematologic diseases. Here, we investigated the frequency CH 82 paired bone marrow carefully selected healthy adult volunteers. Forty-one genes known to be mutated myeloid malignancies sequenced a 1% threshold...