Unilaterálny exantém najčastejšie s postihnutím laterálnej časti hrudníka (ULTE), axily a priľahlej hornej končatiny, známy aj ako asymetrický periflexulárny exantém (APEC), je ochorenie neznámej etiológie. Boli však referované prípady asociované s vírusovou infekciou Epsteina-Barrovej, parvovirusom 19, ako aj vírusom SARS-CoV-2. Exantém je charakterizovaný tvorbou erytematóznych mierne svrbivých makulopapúl, najčastejšie sa vyskytujúcich v detskom veku, typicky spontánne zregreduje s podpornou symptomatickou liečbou v priebehu 2 - 6 týždňov. Autori prezentujú kazuistiku prípadu 10-ročného pacienta s prejavmi ULTE, doplnenú histologickým vyšetrením z kožných prejavov.
Unilatheral Laterothoracic Exnthema (ULTE), also known as asymetrical periflexular exanthema of childhood (APEC), is a disorder of unknown aetiology. However, it has been associated with viral infections, such as Epstein-Barr virus, parvovirus 19 and SARS-CoV-2 infection. It is characterized by unilateral papular exanthema with mild pruritus, that is prevalent in children. Treatment is symptomatic with resolution at 2-6 weeks. The authors present case report of a 10-year-old patient with symptoms of ULTE, supplemented by histology examination of skin manifestations.
- Keywords
- asymetrický periflexulární exantém,
- MeSH
- Diagnosis, Differential MeSH
- Child MeSH
- Exanthema * diagnosis drug therapy MeSH
- Upper Extremity pathology MeSH
- Humans MeSH
- Torso pathology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
Ameloblasts are specialized epithelial cells in the jaw that have an indispensable role in tooth enamel formation-amelogenesis1. Amelogenesis depends on multiple ameloblast-derived proteins that function as a scaffold for hydroxyapatite crystals. The loss of function of ameloblast-derived proteins results in a group of rare congenital disorders called amelogenesis imperfecta2. Defects in enamel formation are also found in patients with autoimmune polyglandular syndrome type-1 (APS-1), caused by AIRE deficiency3,4, and in patients diagnosed with coeliac disease5-7. However, the underlying mechanisms remain unclear. Here we show that the vast majority of patients with APS-1 and coeliac disease develop autoantibodies (mostly of the IgA isotype) against ameloblast-specific proteins, the expression of which is induced by AIRE in the thymus. This in turn results in a breakdown of central tolerance, and subsequent generation of corresponding autoantibodies that interfere with enamel formation. However, in coeliac disease, the generation of such autoantibodies seems to be driven by a breakdown of peripheral tolerance to intestinal antigens that are also expressed in enamel tissue. Both conditions are examples of a previously unidentified type of IgA-dependent autoimmune disorder that we collectively name autoimmune amelogenesis imperfecta.
- MeSH
- Ameloblasts metabolism MeSH
- Amelogenesis Imperfecta * complications immunology MeSH
- Antigens immunology metabolism MeSH
- Polyendocrinopathies, Autoimmune * complications immunology MeSH
- Autoantibodies * immunology MeSH
- Celiac Disease * complications immunology MeSH
- Immunoglobulin A immunology MeSH
- Humans MeSH
- AIRE Protein deficiency MeSH
- Proteins immunology metabolism MeSH
- Intestines immunology metabolism MeSH
- Dental Enamel immunology metabolism MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
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 to life-threatening COVID-19 pneumonia3. Here we report that patients with autosomal recessive NIK or RELB deficiency, or a specific type of autosomal-dominant NF-κB2 deficiency, also have neutralizing autoantibodies against type I IFNs and are at higher risk of getting life-threatening COVID-19 pneumonia. In patients with autosomal-dominant NF-κB2 deficiency, these autoantibodies are found only in individuals who are heterozygous for variants associated with both transcription (p52 activity) loss of function (LOF) due to impaired p100 processing to generate p52, and regulatory (IκBδ activity) gain of function (GOF) due to the accumulation of unprocessed p100, therefore increasing the inhibitory activity of IκBδ (hereafter, p52LOF/IκBδGOF). By contrast, neutralizing autoantibodies against type I IFNs are not found in individuals who are heterozygous for NFKB2 variants causing haploinsufficiency of p100 and p52 (hereafter, p52LOF/IκBδLOF) or gain-of-function of p52 (hereafter, p52GOF/IκBδLOF). In contrast to patients with APS-1, patients with disorders of NIK, RELB or NF-κB2 have very few tissue-specific autoantibodies. However, their thymuses have an abnormal structure, with few AIRE-expressing medullary thymic epithelial cells. Human inborn errors of the alternative NF-κB pathway impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases.
- MeSH
- Gain of Function Mutation MeSH
- Autoantibodies * immunology MeSH
- COVID-19 genetics immunology MeSH
- Thyroid Epithelial Cells metabolism pathology MeSH
- Genetic Predisposition to Disease * MeSH
- Heterozygote MeSH
- Interferon Type I * antagonists & inhibitors immunology MeSH
- NF-kappaB-Inducing Kinase MeSH
- Humans MeSH
- Loss of Function Mutation MeSH
- NF-kappa B p52 Subunit deficiency genetics MeSH
- NF-kappa B * deficiency genetics MeSH
- AIRE Protein MeSH
- I-kappa B Proteins deficiency genetics MeSH
- Thymus Gland abnormalities immunology pathology MeSH
- Pneumonia, Viral genetics immunology MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Keywords
- autoimunitní regulátor,
- MeSH
- Antigen-Presenting Cells immunology MeSH
- Antigens immunology classification MeSH
- Polyendocrinopathies, Autoimmune genetics immunology classification MeSH
- Dendritic Cells immunology MeSH
- Immune Tolerance * immunology MeSH
- Humans MeSH
- Antibody Specificity immunology MeSH
- T-Lymphocytes immunology classification MeSH
- Thymus Gland immunology growth & development MeSH
- Check Tag
- Humans MeSH
- Publication type
- Research Support, Non-U.S. Gov't MeSH
- Review MeSH
- MeSH
- Autoimmune Diseases MeSH
- Polyendocrinopathies, Autoimmune MeSH
- Humans MeSH
- Primary Ovarian Insufficiency * diagnosis epidemiology etiology therapy MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
Wild birds including raptors can act as vectors of clinically relevant bacteria with antibiotic resistance. The aim of this study was to investigate the occurrence of antibiotic-resistant Escherichia coli in black kites (Milvus migrans) inhabiting localities in proximity to human-influenced environments in southwestern Siberia and investigate their virulence and plasmid contents. A total of 51 E. coli isolates mostly with multidrug resistance (MDR) profiles were obtained from cloacal swabs of 35 (64%, n = 55) kites. Genomic analyses of 36 whole genome sequenced E. coli isolates showed: (i) high prevalence and diversity of their antibiotic resistance genes (ARGs) and common association with ESBL/AmpC production (27/36, 75%), (ii) carriage of mcr-1 for colistin resistance on IncI2 plasmids in kites residing in proximity of two large cities, (iii) frequent association with class one integrase (IntI1, 22/36, 61%), and (iv) presence of sequence types (STs) linked to avian-pathogenic (APEC) and extra-intestinal pathogenic E. coli (ExPEC). Notably, numerous isolates had significant virulence content. One E. coli with APEC-associated ST354 carried qnrE1 encoding fluoroquinolone resistance on IncHI2-ST3 plasmid, the first detection of such a gene in E. coli from wildlife. Our results implicate black kites in southwestern Siberia as reservoirs for antibiotic-resistant E. coli. It also highlights the existing link between proximity of wildlife to human activities and their carriage of MDR bacteria including pathogenic STs with significant and clinically relevant antibiotic resistance determinants. IMPORTANCE Migratory birds have the potential to acquire and disperse clinically relevant antibiotic-resistant bacteria (ARB) and their associated antibiotic resistance genes (ARGs) through vast geographical regions. The opportunistic feeding behavior associated with some raptors including black kites and the growing anthropogenic influence on their natural habitats increase the transmission risk of multidrug resistance (MDR) and pathogenic bacteria from human and agricultural sources into the environment and wildlife. Thus, monitoring studies investigating antibiotic resistance in raptors may provide essential data that facilitate understanding the fate and evolution of ARB and ARGs in the environment and possible health risks for humans and animals associated with the acquisition of these resistance determinants by wildlife.
- MeSH
- Angiotensin Receptor Antagonists MeSH
- Anti-Bacterial Agents pharmacology MeSH
- Animals, Wild MeSH
- Escherichia coli * MeSH
- Angiotensin-Converting Enzyme Inhibitors MeSH
- Humans MeSH
- Drug Resistance, Multiple, Bacterial genetics MeSH
- Escherichia coli Proteins * genetics MeSH
- Birds microbiology MeSH
- Animals MeSH
- Check Tag
- Humans MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Siberia MeSH
- MeSH
- Autoimmune Diseases etiology therapy MeSH
- Polyendocrinopathies, Autoimmune * etiology classification physiopathology therapy MeSH
- Humans MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
An experimental group of one-day-old chicken from a commercial hatchery was given a defined mixture of 7 gut anaerobes. The next day the chicks were inoculated by an APEC strain O78:H4-ST117 resistant to ciprofloxacin, alongside with the control group and monitored for 4 wk after the inoculation for the presence of the colonizing strains and ciprofloxacin-resistant E. coli. Significant reduction of colonization rates in the first 2 wk was recorded in the experimental group for the numbers of ciprofloxacin-resistant E. coli. The results show that colonization of chicken by defined anaerobic mixtures may provide a decisive protection during the critical period of the chicken intestinal microflora development.
- MeSH
- Bacteroides MeSH
- Ciprofloxacin pharmacology MeSH
- Escherichia coli MeSH
- Escherichia coli Infections * prevention & control veterinary MeSH
- Chickens MeSH
- Poultry Diseases * prevention & control MeSH
- Probiotics * pharmacology MeSH
- Animals MeSH
- Check Tag
- Animals MeSH
- Publication type
- Journal Article MeSH
Patients with loss of function in the gene encoding the master regulator of central tolerance AIRE suffer from a devastating disorder called autoimmune polyendocrine syndrome type 1 (APS-1), characterized by a spectrum of autoimmune diseases and severe mucocutaneous candidiasis. Although the key mechanisms underlying the development of autoimmunity in patients with APS-1 are well established, the underlying cause of the increased susceptibility to Candida albicans infection remains less understood. Here, we show that Aire+MHCII+ type 3 innate lymphoid cells (ILC3s) could sense, internalize and present C. albicans and had a critical role in the induction of Candida-specific T helper 17 (TH17) cell clones. Extrathymic Rorc-Cre-mediated deletion of Aire resulted in impaired generation of Candida-specific TH17 cells and subsequent overgrowth of C. albicans in the mucosal tissues. Collectively, our observations identify a previously unrecognized regulatory mechanism for effective defense responses against fungal infections.
- MeSH
- Polyendocrinopathies, Autoimmune diagnosis therapy MeSH
- Thyroiditis, Autoimmune diagnosis immunology MeSH
- Child MeSH
- Hashimoto Disease diagnosis drug therapy immunology MeSH
- Clinical Laboratory Techniques methods MeSH
- Humans MeSH
- Adolescent MeSH
- Thyroid Gland * pathology MeSH
- Thyroid Function Tests methods MeSH
- Ultrasonography methods MeSH
- Treatment Outcome MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
