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The Journal of Investigative Dermatology Mar 2022
Topics: Autoantibodies; Autoantigens; Dystonin; Enzyme-Linked Immunosorbent Assay; Fractures, Bone; Humans; Non-Fibrillar Collagens
PubMed: 34883045
DOI: 10.1016/j.jid.2021.11.028 -
The Journal of Dermatology Oct 2021
Topics: Autoantibodies; Autoantigens; Dermis; Dystonin; Enzyme-Linked Immunosorbent Assay; Female; Humans; Immunoglobulin G; Middle Aged; Non-Fibrillar Collagens; Pemphigoid, Bullous
PubMed: 34309904
DOI: 10.1111/1346-8138.16070 -
MicroPublication Biology 2021Genetic screens are used to identify genes involved in specific biological processes. An EMS mutagenesis screen in identified growth control phenotypes in the...
Genetic screens are used to identify genes involved in specific biological processes. An EMS mutagenesis screen in identified growth control phenotypes in the developing eye. One mutant line from this screen, , was phenotypically characterized using the FLP/FRT system and genetically mapped by complementation analysis and genomic sequencing by undergraduate students participating in the multi-institution Fly-CURE consortium. was found to have a nonsense mutation in (), anortholog of the mammalian spectraplakin (). and are involved in cytoskeletal organization and play roles during cell growth and proliferation.
PubMed: 34278244
DOI: 10.17912/micropub.biology.000418 -
International Journal of Dermatology May 2022
Topics: Autoantibodies; Autoantigens; Dystonin; Enzyme-Linked Immunosorbent Assay; Humans; Laminin; Non-Fibrillar Collagens; Pemphigoid, Bullous; Sitagliptin Phosphate
PubMed: 34196971
DOI: 10.1111/ijd.15762 -
The Journal of Dermatology Oct 2021
Case of bullous pemphigoid positive for full-length BP180 ELISA accompanied by immunological reconstitution due to antiretroviral therapy for human immunodeficiency virus infection.
Topics: Adult; Autoantibodies; Autoantigens; Dystonin; Enzyme-Linked Immunosorbent Assay; HIV Infections; Humans; Male; Non-Fibrillar Collagens; Pemphigoid, Bullous
PubMed: 34176141
DOI: 10.1111/1346-8138.16037 -
The Journal of Dermatology Sep 2021IgE autoantibodies targeting BP230 can be identified in 38%-68% of bullous pemphigoid (BP) patients, yet the diagnostic and pathogenic value of anti-BP230 IgE still...
BACKGROUND
IgE autoantibodies targeting BP230 can be identified in 38%-68% of bullous pemphigoid (BP) patients, yet the diagnostic and pathogenic value of anti-BP230 IgE still remains inconclusive.
OBJECTIVE
We intend to investigate the clinical and immunological characteristics of anti-BP230 IgE in BP patients.
METHODS AND RESULTS
Fifty-four BP patients were divided into two groups based on the responsiveness of a topical steroid. We investigated clinical features and IgE autoantibodies profiles by indirect immunofluorescence, ELISA and western blot between the two groups. BP disease area index (BPDAI) scores, total IgE, peripheral eosinophil counts, and anti-BP230 IgE level were significantly higher in the topical-steroid-resistant group. The majority of topical-steroid-resistant patients present with blister/erythematous phenotype (64.3%) and anti-BP230 IgE (59.5%), which correlates with total IgE levels. ELISAs of domain-specific BP230 recombinant proteins indicated that IgE in the topical-steroid-resistant group can react with all seven domains of BP230 and more frequently with the BP230-R1 epitope.
CONCLUSION
Anti-BP230 IgE is more frequently observed in topical-steroid-therapy-resistant patients and the prefers R1 domain of BP230, which is not included in commercially available testing kits. Our study further suggests the pathogenic role of anti-BP230 IgE in BP. Performing anti-BP230 IgE detection can serve as an indicator for initiating systemic steroid therapy.
Topics: Autoantibodies; Autoantigens; Dystonin; Enzyme-Linked Immunosorbent Assay; Humans; Immunoglobulin E; Non-Fibrillar Collagens; Pemphigoid, Bullous; Steroids
PubMed: 34128260
DOI: 10.1111/1346-8138.15952 -
BMC Pediatrics Jun 2021MYCN amplification and age are two critical prognostic factors of pediatric neuroblastoma. Previously, we had revealed the prognosis of MYCN target genes. However, the...
BACKGROUND
MYCN amplification and age are two critical prognostic factors of pediatric neuroblastoma. Previously, we had revealed the prognosis of MYCN target genes. However, the prognostic effects of age related genes in neuroblastoma are unclear.
METHODS
The prognostic significance of age and MYCN amplification was determined through multivariate cox regression and Kaplan-Meier survival analysis. Genes differentially expressed in MYCN non-amplified younger neuroblastoma patients were identified using Therapeutically Applicable Research to Generate Effective Treatments (TARGET) and Gene Expression Omnibus (GEO) datasets. The prognostic effects of age related genes ALCAM, CACNA2D3, DST, EPB41L4A and KIF1B in pediatric neuroblastoma patients were determined by Kaplan-Meier survival.
RESULTS
In a pediatric pan-cancer analysis, age was associated with the overall survival of pediatric B-lineage acute lymphoblastic leukemia, neuroblastoma and wilms tumor in TARGET dataset. Moreover, the prognostic effects of age in neuroblastoma were validated using two independent neuroblastoma cohorts. Furthermore, age and MYCN amplification were independent prognostic factors in pediatric neuroblastoma. Compared with MYCN non-amplified older neuroblastoma patients, MYCN non-amplified younger neuroblastoma patients had better clinical outcomes. ALCAM, CACNA2D3, DST, EPB41L4A and KIF1B were highly expressed in MYCN non-amplified younger neuroblastoma patients. And the higher expression levels of ALCAM, CACNA2D3, DST, EPB41L4A or KIF1B were associated with better prognosis of MYCN non-amplified neuroblastoma patients. DST was an independent prognostic factor in MYCN non-amplified neuroblastoma patients and MYCN non-amplified neuroblastoma younger patients with higher DST expression levels had the best clinical overall survival.
CONCLUSIONS
Age related gene DST was an independent prognostic factor in MYCN non-amplified neuroblastoma. MYCN non-amplified younger neuroblastoma patients with higher DST expression levels had the best clinical overall survival.
Topics: Child; Dystonin; Gene Amplification; Gene Expression; Humans; N-Myc Proto-Oncogene Protein; Neuroblastoma; Prognosis
PubMed: 34116676
DOI: 10.1186/s12887-021-02753-6 -
The Journal of Dermatology Aug 2021Bullous pemphigoid (BP) is an autoimmune skin disease, caused by autoantibodies to BP180 and/or BP230. While both these autoantigens are expressed in the entire skin,...
Bullous pemphigoid (BP) is an autoimmune skin disease, caused by autoantibodies to BP180 and/or BP230. While both these autoantigens are expressed in the entire skin, only some parts of the body become affected. Rare clinical observations indicate that BP may also manifest locally, usually following exposure to triggers. Here, we evaluated the occurrence and potential triggers of localized BP (LBP) in a cohort of 285 BP patients. Medical records of all BP patients hospitalized between 2009 and 2019 were reviewed. In 7/285 BP patients, a localized variant was identified. In 5/7 LBP patients, the disease remained local, while in 2/7 patients, an initial LBP subsequently spread. All cases were preceded by presumptive triggers, including previously described triggers and bacterial infections. Overall, LBP is rare. LBP, however, might be underdiagnosed and should thus be considered in the differential diagnosis, particularly when trigger factors preceded.
Topics: Autoantibodies; Autoantigens; Dystonin; Humans; Non-Fibrillar Collagens; Pemphigoid, Bullous; Prevalence
PubMed: 33998059
DOI: 10.1111/1346-8138.15912 -
Journal of the European Academy of... Oct 2021While clustering of bullous pemphigoid (BP) with neuropsychiatric diseases is well-established, the clinical and immunological profile of BP patients with this...
BACKGROUND
While clustering of bullous pemphigoid (BP) with neuropsychiatric diseases is well-established, the clinical and immunological profile of BP patients with this comorbidity remains to be decisively determined.
OBJECTIVES
To evaluate the burden of neurological and psychiatric comorbidities among patients with BP and to elucidate the clinical, immunological and immunopathological features of patients with BP and comorbid neuropsychiatric conditions.
METHODS
We performed a retrospective study encompassing patients diagnosed with BP throughout the years 2009-2020 in a specialized tertiary referral centre. Multivariate logistic regression model was used to identify predictors of neuropsychiatric conditions among patients with BP.
RESULTS
The study included 273 patients with BP, of whom 123 (45.1%) presented with comorbid neuropsychiatric disease. Compared to the remaining patients with BP (n = 150), those with pre-existing neuropsychiatric diseases demonstrated older mean [standard deviation (SD)] age [81.7 (9.1) vs. 76.9 (10.1); P < 0.001], female preponderance (65.0% vs. 49.3%; P = 0.009), higher seropositivity rate of anti-BP230 (67.7% vs. 36.5%; P = 0.006) and higher levels of anti-BP180 NC16A IgG [651.3 (1279.6) vs. 370.4 (818.6) U/mL; P = 0.039]. In multivariate analysis, anti-BP230 seropositivity was independently associated with coexistence of BP with neuropsychiatric conditions [adjusted odds ratio (OR), 3.43; 95% CI, 1.24-9.52; P = 0.018]. In a sensitivity analysis confined to patients with neurological diseases (n = 103), older age [82.1 (8.4) vs. 77.2 (10.3); P < 0.001] and increased anti-BP230 seropositivity (68.0% vs. 39.7%; P = 0.018) were identified.
CONCLUSIONS
The coexistence of BP with neuropsychiatric diseases is independently associated with the generation of anti-BP230 antibodies.
Topics: Aged; Autoantibodies; Autoantigens; Comorbidity; Dystonin; Female; Humans; Non-Fibrillar Collagens; Pemphigoid, Bullous; Retrospective Studies
PubMed: 33896070
DOI: 10.1111/jdv.17304 -
Cutis Feb 2021
Topics: Antibodies; Autoantibodies; Dystonin; Enzyme-Linked Immunosorbent Assay; Humans; Pemphigoid, Bullous
PubMed: 33891843
DOI: 10.12788/cutis.0182