A5034418308- Immunodeficiency and Autoimmune Disorders
- Immune Response and Inflammation
- Immune Cell Function and Interaction
- Viral Infections and Immunology Research
- Herpesvirus Infections and Treatments
- Antifungal resistance and susceptibility
- Cytomegalovirus and herpesvirus research
- Fungal Infections and Studies
- Family and Disability Support Research
- Demographic Trends and Gender Preferences
- Viral-associated cancers and disorders
- Infant Development and Preterm Care
- interferon and immune responses
- Respiratory viral infections research
- Cerebral Palsy and Movement Disorders
- Psoriasis: Treatment and Pathogenesis
- Prenatal Screening and Diagnostics
Rockefeller University
2011-2019
Institut de Génétique Humaine
2019
Inserm
2014-2019
Université Paris Cité
2014-2019
Institut des Maladies Génétiques Imagine
2019
Délégation Paris 5
2014
CHA Bundang Medical Center
2013
CHA University
2013
Chronic mucocutaneous candidiasis disease (CMCD) is characterized by recurrent or persistent infections of the skin, nails, and oral genital mucosae caused Candida albicans and, to a lesser extent, Staphylococcus aureus, in patients with no other infectious autoimmune manifestations. We report two genetic etiologies CMCD: autosomal recessive deficiency cytokine receptor, interleukin-17 receptor A (IL-17RA), dominant interleukin-17F (IL-17F). IL-17RA complete, abolishing cellular responses...
Severe influenza disease strikes otherwise healthy children and remains unexplained. We report compound heterozygous null mutations in IRF7, which encodes the transcription factor interferon regulatory 7, an child who suffered life-threatening during primary infection. In response to virus, patient's leukocytes plasmacytoid dendritic cells produced very little type I III interferons (IFNs). Moreover, dermal fibroblasts induced pluripotent stem cell (iPSC)-derived pulmonary epithelial reduced...
Autosomal recessive IRF7 and IRF9 deficiencies impair type I III IFN immunity underlie severe influenza pneumonitis. We report three unrelated children with A virus (IAV) infection manifesting as acute respiratory distress syndrome (IAV-ARDS), heterozygous for rare TLR3 variants (P554S in two patients P680L the third) causing autosomal dominant (AD) deficiency. AD deficiency can herpes simplex virus-1 (HSV-1) encephalitis (HSE) by impairing cortical neuron-intrinsic to HSV-1. TLR3-mutated...
<h3>Objective:</h3> To determine the proportion of children with herpes simplex encephalitis (HSE) displaying TLR3 deficiency, extent allelic heterogeneity, and specific clinical features deficiency. <h3>Methods:</h3> We determined sequence all exons <i>TLR3</i> in 110 120 patients HSE enrolled our study who do not carry any previously described HSE-predisposing mutations pathway genes (<i>TLR3</i>, <i>UNC93B1</i>, <i>TRIF</i>, <i>TRAF3</i>, <i>TBK1</i>). All new mutant alleles detected were...
Kaposi sarcoma (KS), a human herpes virus 8 (HHV-8; also called KSHV)–induced endothelial tumor, develops only in small fraction of individuals infected with HHV-8. We hypothesized that inborn errors immunity to HHV-8 might underlie the exceedingly rare development classic KS childhood. report here autosomal recessive OX40 deficiency an otherwise healthy adult childhood-onset KS. is co-stimulatory receptor expressed on activated T cells. Its ligand, OX40L, various cell types, including found...
Abstract Chronic mucocutaneous candidiasis disease (CMCD) is characterized by recurrent or persistent infections of the skin, nails, oral and genital mucosae caused Candida albicans and, to a lesser extent, Staphylococcus aureus, in patients with no other infectious autoimmune manifestations. We report two genetic etiologies CMCD: autosomal recessive deficiency cytokine receptor, interleukin-17 receptor A (IL-17RA), dominant IL-17F. IL-17RA complete, abolishing cellular responses IL-17A...
Objective To obtain reliability and applicability of the Korean version Bayley Scale Infant Development-II (BSID-II) in evaluating developmental status children with cerebral palsy (CP). Methods The inter-rater BSID-II scores from 68 CP (46 boys 22 girls; mean age, 32.54±16.76 months; age range, 4 to 78 months) was evaluated by 10 pediatric occupational therapists. Patients were classified several ways according group, typology, severity motor impairment level Gross Motor Function...