This study represents the largest GWAS on pemphigus in the Chinese population published to date, and has allowed us to identify HLA haplotypes significantly shared between or specific to the two main subtypes of pemphigus.

ObjectiveTo evaluate the clinical reliability and validity of the Chinese version of the Patient Health Questionnaire-9 (C-PHQ-9) in patients with psoriasis.DesignCross-sectional study.SettingTertiary care centre.ParticipantsPatients with psoriasis who have not been diagnosed with depression (n=148; mean age 43.37±17.46 years; 31.19% female).Primary and secondary outcome measuresThe primary outcome measures considered in this study were the C-PHQ-9 and the Hamilton Depression Scale (HAMD). The American Diagnostic and Statistical Manual of Mental Disorders Fifth Edition (DSM-V) was used as the gold standard for the diagnosis of depression. Cronbach’s α and test–retest reliability after 1 week were evaluated using reliability analysis, and criterion and structural validity were assessed using validity analysis. Receiver operating characteristic (ROC) analysis was performed to identify the best demarcation score and diagnostic accuracy.ResultsCompared with DSM-V (27.27%), both C-PHQ-9 (39.19%) and HAMD (31.01%) had higher rates for detecting depression. The mean completion time for C-PHQ-9 evaluation (2.02±0.84 min) was significantly less than that for HAMD (23.37±3.21 min, p<0.001). The Cronbach’s α coefficient for the C-PHQ-9 was 0.938. The correlation coefficients of the nine items with the total scale ranged from 0.540 to 0.854, and the mean inter-item correlation coefficients ranged from 0.376 to 0.933. After a week, the retest coefficient was 0.955 (p<0.01). Principal component factor analysis showed that C-PHQ-9 identified a unifactorial structure. The best cut-off point was 9 points, with a sensitivity of 98.00% and a specificity of 90.80%. The area under the ROC curve was 0.979 (95% CI 0.968 to 0.991).ConclusionC-PHQ-9 has good reliability and validity in patients with psoriasis and can be used for primary screening of patients with psoriasis and depression. This scale has obvious time and labour advantages over the HAMD and should be considered for use in clinical practice.

Rationale: Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency presenting as two forms including autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES), which are mainly caused by mutations in STAT3 and DOCK8, respectively. To date, only about 500 cases have been reported worldwide including 37 cases in China. The spectrum and prevalence of mutations and molecular pathogenesis in HIES remain poorly understood. Patient concerns: Here we reported two Chinese children presenting clinical manifestations of HIES. Diagnosis: Based on medical history, clinical manifestations, and laboratory findings, a diagnosis of HIES was made for both children. Targeted next-generation sequencing (NGS) identified a novel heterozygous deletion of 15 bp (c.1960_1974del, p.G654_D658del or alternatively c.1966_1980del, and p.G656_D660del), and a recurrent missense mutation (c.1144C>T, p.R382W) in STAT3 in the two patients, respectively. Interventions: The two patients have been given the successful treatment of skin infections with cefaclor. Outcomes: Both patients have been under follow-up for more than 6 months, with no signs of recurrent infections. Lessons: Our results extend the spectrum of STAT3 mutations associated with ADHIES and highlight the value of targeted NGS in confirming diagnosis of genetic disorders.

Cyclopropanes bearing contiguous all-carbon quaternary centers continue to attract attention due to their bioactivities. However, methods to obtain cyclopropanes with contiguous all-carbon quaternary centers remain largely unexplored due to the high steric hindrance of these compounds. Herein, we report a visible-light-mediated energy-transfer (EnT) strategy to realize in situ donor/donor carbenes from readily available N-tosylhydrazones, facilitating the synthesis of highly congested EWG-free cyclopropanes. Through this approach, cyclopropanes are rapidly installed into complex bioactive molecules, fluorescent molecules, and other useful building blocks that are challenging to synthesize. Detailed mechanistic reactions and DFT studies clearly demonstrated the role of the photosensitizer, the formation of donor/donor carbenes, and the necessity of light and a base in the system.