48 patients with WS with the clinical phenotype described above [1]. Approximately 50% patients were de novo cases, whereas familial cases were inherited in an autosomal dominant pattern [2]. In Korea, although potential WS cases have been reported, an EZH2 variant has not been con rmed [3]. In this case report, we discuss the rst Korean case of WS along with genetic con rmation of an EZH2 variant. The Institutional Review Board of Seoul National University Hospital (Seoul, Korea) approved the study (approval number: 2111-131-1275). Informed consent was obtained from the patient's legal guardians. CASEA 7-month-old female was presented to the out-patient pediatrics clinic of Seoul National University Hospital with multiple palpable masses on her back, left side of the head, and extremities.The masses were approximately 1-3 cm in size and moved upon touch, but were reportedly not painful. The patient did not have

Background: Several T-cell response assays for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are available; however, their comparability and correlations with antibody responses remain unclear. We compared four SARS-CoV-2 T-cell response assays and two anti-SARS-CoV-2 spike antibody assays.Methods: We enrolled 89 participants who had received a booster dose of the BNT162b2 vaccine after two doses of the ChAdOx1 or BNT162b2 vaccine. Fifty-six participants without breakthrough infection (BI) (ChAdOx1/BNT162b2 group: N = 27; BNT162b2 group: N = 29) and 33 with BI were included. We evaluated two whole-blood interferon-gamma release assays (IGRAs) (QuantiFERON and Euroimmun), T-SPOT.COVID, an in-house enzyme-linked immunospot (ELISPOT) assay (targeting the spike and nucleocapsid peptides of wild-type and Omicron SARS-CoV-2), Abbott IgG II Quant, and Elecsys Anti-S, using Mann-Whitney U, Wilcoxon signed-rank, and Spearman's correlation tests. Results:The correlations between the IGRAs and between the ELISPOT assays (ρ = 0.60-0.70) were stronger than those between the IGRAs and ELISPOT assays (ρ = 0.33-0.57). T-SPOT.COVID showed a strong correlation with Omicron ELISPOT (ρ=0.70). The anti-spike antibody assays showed moderate correlations with T-SPOT.COVID, Euroimmun IGRA, and ELISPOT (ρ=0.43-0.62). Correlations tended to be higher in the BI than in the noninfected group, indicating that infection induces a stronger immune response.Conclusions: T-cell response assays show moderate to strong correlations, particularly when using the same platform. T-SPOT.COVID exhibits potential for estimating immune responses to the Omicron variant. To accurately define SARS-CoV-2 immune status, both T-cell and B-cell response measurements are necessary.

Background: Data on human leukocyte antigen (HLA) genotype distribution, including DQA1 and DPA1, in the Korean population are limited. We aimed to investigate the allele and haplotype frequencies of 11 HLA loci in 339 Korean subjects using HLA typing based on next-generation sequencing (NGS). Methods: A total of 339 samples from unrelated healthy subjects were genotyped for HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DRB3, HLA-DRB4, HLA-DRB5, HLA-DQB1, HLA-DQA1, HLA-DPB1, and HLA-DPA1 using two different NGS-based HLA typing kits (166 tested using the NGSgo-MX11-3 kit [GenDx] and 173 by the AllType NGS 11 Loci Amplification kit [One Lambda]). PyPop software was used to estimate allele and haplotype frequencies and linkage disequilibrium between the loci. Additionally, a principal component analysis was performed to compare the allele distribution of Koreans with that of other populations. Results: A total of 214 HLA alleles (97 class I and 117 class II alleles) were assigned. The most frequent alleles for each locus were A*

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