Common variable immunodeficiency (CVID) is a heterogeneous primary immunodeficiency characterized by reduced levels of immunoglobulin (Ig)G, with or without IgA and/or IgM deficiency, and hypogammaglobulinemia. Clinical manifestations are diverse, ranging from recurrent infections to autoimmune and allergic diseases. While CVID has been rarely reported in the Korean population, particularly in adults, we report 2 adult cases of CVID comorbid with asthma and Behcet’s disease. The first case of a 53-year-old with severe allergic asthma and chronic rhinosinusitis experienced recurrent respiratory infections, stomatitis, and cystitis requiring frequent antibiotic treatment. Laboratory findings indicated a T2-high asthma phenotype, with elevated serum total IgE specific IgE to dog hair and fractional exhaled nitric oxide. Immunological evaluation revealed decreased serum IgG (including IgG1 and IgG2), along with hypogammaglobulinemia. She had been treated with regular anti-IgE antibody therapy and intravenous immunoglobulin replacement therapy (IVIGRT). The second case of a 38-year-old with Behçet’s disease and uveitis had bronchial asthma and rhinitis that were exacerbated by recurrent infections despite standard asthma therapy. Laboratory findings revealed a T2-low phenotype and a marked reduction in serum IgG (including IgG1, IgG2, and IgG4), and hypogammaglobulinemia, consistent with CVID.IVIGRT effectively reduced asthma exacerbations and infection episodes in both cases. These cases highlight the clinical heterogeneity of CVID and its potential overlap with allergic and autoimmune diseases. Immunological evaluation of underlying immunodeficiency should be considered in adult patients with asthma who present with frequent exacerbations and recurrent infections. Early diagnosis and IVIGRT can prevent complications and improve outcomes.

Purpose: To compare the anatomical and clinical outcomes based on the distance from the corneal limbus to the scleral tunnel in flanged intrascleral intraocular lens (IOL) fixation. Methods: We retrospectively analyzed the medical records of patients who underwent scleral fixation of flanged IOLs. Group 1 (54 eyes) had a distance of 2.1 mm from the corneal limbus to the scleral tunnel, and Group 2 (48 eyes) had a distance of 2.8 mm. We evaluated the best corrected visual acuity (BCVA), postoperative complications, IOL tilt and decentration, refractive prediction error (RPE), effective lens position, and iris-IOL distance. Results: The BCVA, postoperative complications, IOL tilt, and IOL decentration did not differ between the two groups (p > 0.05). The RPE showed a hyperopic shift in Group 1 and a myopic shift in Group 2 (Group 1: +0.24 ± 0.68 D, Group 2: -0.03 ± 0.43 D, p = 0.03). The iris-IOL distance was statistically longer in Group 1 compared to Group 2 (Group 1: 1.02 ± 0.40 mm, Group 2: 0.57 ± 0.32 mm, p = 0.02). The incidence of pupillary optic capture was significantly higher in Group 2 compared to Group 1 (Group 1; 0%, Group 2; 8.3%, p = 0.03). Conclusions It should be considered that a shorter distance from the corneal limbus to the scleral tunnel results in a postoperative hyperopic shift and reduces the incidence of pupillary optic capture when performing flanged intrascleral IOLs fixation.

Purpose: Cyclodialysis can occur after ocular trauma or intraocular surgery and can lead to persistent hypotony and vision loss if not treated appropriately. In eyes with prior trabeculectomy, conventional cyclopexy requires a conjunctival incision, which may compromise a functioning filtering bleb. We present a case in which a capsular tension ring (CTR) was inserted into the ciliary sulcus to repair cyclodialysis without conjunctival incision, preserving the filtering bleb.Case summary: A 65-year-old man developed hypotony, a shallow anterior chamber, and cataract progression after trabeculectomy. Swept-source anterior segment optical coherence tomography revealed approximately 200° of cyclodialysis involving the nasal and temporal quadrants. The patient had already lost vision in the left eye, and the right eye represented the only eye with preserved visual potential. As preservation of the filtering bleb in the right eye was essential, phacoemulsification with intraocular lens implantation was performed, and a CTR was inserted into the ciliary sulcus without conjunctival incision. One day after surgery, anterior segment optical coherence tomography confirmed complete reattachment of the ciliary body. At the 1-year follow-up, the ciliary body remained well attached with no recurrence of cyclodialysis. The filtering bleb appeared clinically diffuse and healthy, and both visual function and intraocular pressure remained stable throughout the follow-up period. Conclusions Insertion of a CTR into the ciliary sulcus without conjunctival incision enabled successful closure of the cyclodialysis cleft while preserving filtering bleb function, offering a practical treatment option for eyes with prior trabeculectomy.

Background: As nationwide government-led whole-genome sequencing (WGS) projects progress, optimizing the clinical integration of large-scale WGS results is crucial. We explored how the initial analysis from Korea’s First WGS Pilot Study for Rare Diseases was applied in clinical practice, and then we reanalyzed the data comprehensively at Samsung Medical Center (SMC) Seoul, Korea. Methods: A prospective cohort study designed to collect WGS data under a Korean national initiative was conducted from August 2020 to December 2021. We focused on patients with rare diseases recruited from 16 university hospitals. The participants included 5,000 individuals (2,200 probands and 2,800 family members). The initial WGS data and diagnostic reference reports (from 682 probands and 484 family members), generated based on the First Korean WGS Pilot Study for Rare Diseases, were subsequently reanalyzed by SMC. Results: The initial analysis of the First Korean WGS Pilot Study data revealed a diagnostic rate of 17%. Upon receiving these results, the SMC conducted two rounds of reanalysis, increasing the diagnostic rate from 15% in the first analysis, to 18% in the second, and finally to 24% in the third (P = 1.6 × 10 −5 ). Key factors in improving the genetic diagnosis included increased detection of novel (likely) pathogenic variants (P = 1.0 × 10 −4 ), improved diagnostic rates with larger family recruitment (P = 0.004), and refined clinical information for more precise genotype–phenotype correlation analysis (40%). Conclusions Although national WGS projects lay a foundation for rare disease diagnosis, hospital-level reanalysis and multidisciplinary collaborations are crucial for optimizing diagnostic outcomes.

Background: Fusion genes are major drivers of acute leukemia. Conventional diagnostics are limited in detecting the diverse fusions included in recently updated acute leukemia classifications. We evaluated the fusion detection performance of RNA sequencing (RNAseq) compared with that of conventional diagnostics in patients with acute leukemia. Methods: We retrospectively obtained the data of 101 patients with acute leukemia who underwent conventional diagnostics (i.e., karyotyping, FISH, or multiplex reverse transcription PCR) at diagnosis at Samsung Medical Center, Seoul, Korea, between September 2022 and September 2023. Whole RNA-seq was performed using the Illumina Stranded mRNA Prep kit (Illumina, San Diego, CA, USA). The concordance, sensitivity, and specificity of RNA-seq for fusion gene detection were compared with those of conventional diagnostics. Results: RNA-seq helped identify 52 fusion genes in 51 (50.5%) of 101 patients, with detection rates of 40.7%, 70.3%, 37.5%, and 50% in acute myeloid leukemia, B-cell acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemia, and mixed-phenotype acute leukemia, respectively. RNA-seq showed 83.3% sensitivity and 80.8% concordance with conventional diagnostics; it missed eight fusions, likely because of low transcript abundance or enhancer hijacking. RNA-seq also helped clarify three previously unspecified rearrangements and detected 12 fusions (21.4%) in 56 cases that tested negative with conventional diagnostics, including four novel (KMT2A::THAP12 , RUNX1::PRPF19 , MLLT10::UBE2L6, and FUS::ZNF362) and three rare (HNRNPH1::ERG, RUNX1::USP42, and ETV6::NCOA2) fusions. Conclusions This was the first study to evaluate the performance of whole RNA-seq in fusion detection in patients with acute leukemia in Korea. Incorporating RNA-seq into diagnostic workflows may facilitate earlier and more precise therapeutic decisions and improve prognostic assessment in patients with acute leukemia.

Background: Despite widespread vaccination efforts against severe acute respiratory syndrome coronavirus 2, variants with increased transmissibility or immune evasion continue to emerge, posing a considerable challenge. Understanding the immunological factors associated with coronavirus disease (COVID-19) progression is essential for improving patient management and treatment strategies. We explored the dynamic changes in the peripheral white blood cell (WBC) profile, including T lymphocyte subsets, to assess their potential as predictors of disease severity and progression. Methods: Two hundred fifty-eight patients hospitalized for confirmed COVID-19 were classified into four sub-cohorts based on changes in disease severity over 7 days. WBC parameters, including absolute neutrophil, total lymphocyte, and T cell subset counts, and the neutrophil-to-lymphocyte ratio (NLR) were assessed at admission and after 7 days. Results: Patients with persistent mild-to-moderate illness exhibited a marked increase in the lymphocyte count and a decrease in the NLR over time. In contrast, patients with sustained severe-to-critical illness showed an increasing WBC count without a corresponding increase in the lymphocyte count, in addition to a marked elevation in the NLR. Patients whose condition improved from severe-to-critical to mild-to-moderate illness showed increased cluster of differentiation (CD)3+ and CD4+ T cell counts and an elevated CD4/CD8 ratio, whereas the NLR did not significantly change. Conclusions The early-phase dynamics of T cell subsets may serve as a useful biomarker of disease severity and recovery in patients with COVID-19. Monitoring these immunological changes may help support clinical decision-making and inform the timing of therapeutic interventions.

Purpose: Although gastric cancer (GC) exhibits significant genomic heterogeneity, the clinical implications of its immune microenvironment remain poorly understood. Materials and Methods: We retrospectively evaluated patients with GC who underwent gastrectomies between 2011 and 2014. The tumors were analyzed for Epstein–Barr virus (EBV), microsatellite instability-high (MSI-H), tumor-infiltrating lymphocytes (CD3), tumor-associated macrophages (CD68 and CD163), and programmed death-ligand 1 (PD-L1) expression. Tumors were classified using the modified The Cancer Genome Atlas scheme, and their clinical characteristics were compared. Results: A total of 567 patients were classified into EBV (6%), MSI-H (10%), chromosomal instability-like (36%), and genomically stable-like (48%) subtypes. EBV tumors exhibited the highest PD-L1 expression (85%) and immune infiltration by CD3+ T cells (86%), CD68+ macrophages (58%), and CD163+ macrophages (40%). High CD68+ macrophage tumors were associated with advanced stages and worse 5-year disease-free survival (83% vs. 95%; P<0.001);however, this association was not independently significant after adjusting for the tumor-nodemetastasis stage. PD-L1 expression did not significantly affect the survival outcomes. Conclusions GC subtypes have distinct immune microenvironments that influence prognosis. Our findings highlight the prognostic and therapeutic potential of immune profiling in GC.

Objective: Thoracic pedicle screw fixation is technically demanding because of the natural variability in pedicle anatomy, a challenge that is further exacerbated in patients with spinal tumors who often have compromised pedicles. The L-point entry, juxtapedicular, and endplate-parallel trajectory (L-JET) technique was developed to provide a uniform entry point, a predictable screw trajectory, and the capacity to accommodate larger-diameter screws at levels T3–10. This study aimed to evaluate the safety and feasibility of the L-JET technique in comparison with the conventional transpedicular method. Methods: A comparative analysis of consecutively collected data was performed to evaluate outcomes associated with the L-JET technique in patients undergoing surgery for thoracic extradural spinal tumors. The L-point was defined as the intersection of a vertical line along the lateral margin of the facet joint and a horizontal line along the upper edge of the transverse process. The screw trajectory was planned with 30° of medial convergence in the axial plane, creating a juxtapedicular path, and a straightforward trajectory in the sagittal plane. Primary outcome measures included screw diameter, screw length, cortical breach rate, and the need for revision surgery, as assessed using computed tomography scans and medical records. Results: A total of 108 screws were placed in 22 patients using the L-JET technique, while 98 screws were placed in 18 patients using the conventional technique. The L-JET group used significantly larger-diameter screws (6.06±0.65 mm) than the conventional group (5.74±0.80 mm, p=0.02), with no significant difference observed in screw length between groups. Medial cortical breach occurred in one screw in each group, and no supra- or infrapedicular breaches were identified. No screw-related neurovascular complications or revision surgeries occurred in either group. Conclusion The L-JET technique enables consistent screw placement with larger-diameter screws, even in compromised pedicles associated with thoracic spinal tumors, without increasing the risk of complications or the need for revision surgery.