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OS and EFS. (A) OS at 5–10 years (y) after transplant for our cohort (n = 42). (B) Impact on 10-year OS of matched or mismatched donor (P = 0.002) and of cGvHD (P = 0.001). (C) EFS at 5–10 years after transplant for our cohort (n = 42). (D) Impact on 10-year EFS of cGvHD (P = 0.001).
Published: 06 February 2026
Figure 1. OS and EFS. (A) OS at 5–10 years (y) after transplant for our cohort (n = 42). (B) Impact on 10-year OS of matched or mismatched donor (P = 0.002) and of cGvHD (P = 0.001). (C) EFS at 5–10 years after transplant for our cohort (n = More about this image found in OS and EFS. (A) OS at 5–10 years (y) after transplant for our cohort (
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Posttransplant peripheral blood chimerism (n = 42). (A) Longitudinal distribution of CD3+ blood chimerism at 1, 3, 5, 7, and 10 years after transplant. (B) Longitudinal distribution of CD15+ blood chimerism at 1, 3, 5, 7, and 10 years after transplant.
Published: 06 February 2026
Figure 2. Posttransplant peripheral blood chimerism (n = 42). (A) Longitudinal distribution of CD3+ blood chimerism at 1, 3, 5, 7, and 10 years after transplant. (B) Longitudinal distribution of CD15+ blood chimerism at 1, 3, 5, 7, and 10 More about this image found in Posttransplant peripheral blood chimerism (n = 42). (A) L...
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Course of lymphocyte subsets during follow-up of patients with a heterozygous FOXN1 variant identified from TREC-based NBS. The grey area represents the values between the 10th and 90th percentiles.
Published: 05 February 2026
Figure 1. Course of lymphocyte subsets during follow-up of patients with a heterozygous FOXN1 variant identified from TREC-based NBS. The grey area represents the values between the 10th and 90th percentiles. More about this image found in Course of lymphocyte subsets during follow-up of patients with a heterozygo...
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Course of lymphocyte subsets during follow-up of patients with idiopathic T cell lymphopenia identified from TREC-based NBS. The grey area represents the values between the 10th and 90th percentiles.
Published: 05 February 2026
Figure 2. Course of lymphocyte subsets during follow-up of patients with idiopathic T cell lymphopenia identified from TREC-based NBS. The grey area represents the values between the 10th and 90th percentiles. More about this image found in Course of lymphocyte subsets during follow-up of patients with idiopathic T...
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Brain CT and MRI of our patient. (A) Initial brain CT scan at disease onset showing hypoattenuation in the cerebral cortex, basal ganglia, thalamus, brainstem, and cerebellum (arrows), along with marked cerebral edema. (B) Follow-up brain CT on hospital day 28 demonstrating progression of hypoattenuation throughout the cerebral white matter. (C) Brain MRI on day 93 showing findings suggestive of liquefactive necrosis. T1-weighted image showed hypointensity, and T2-weighted image showed hyperintensity in the periventricular and external capsule regions (arrows), indicating parenchymal liquefactive necrosis.
Published: 04 February 2026
Figure 1. Brain CT and MRI of our patient. (A) Initial brain CT scan at disease onset showing hypoattenuation in the cerebral cortex, basal ganglia, thalamus, brainstem, and cerebellum (arrows), along with marked cerebral edema. (B) Follow-up More about this image found in Brain CT and MRI of our patient. (A) Initial brain CT scan at disease onse...
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EEG of our patient. In a bipolar longitudinal montage, the red curves depict the right hemisphere, the blue curves depict the left hemisphere, and the black curves depict the midline. (A) The EEG was recorded at the onset of the disease and shows persistent widespread high-voltage slow waves. (B) The EEG showed marked diffuse low-voltage activity, suggesting a marked decline in cerebral function.
Published: 04 February 2026
Figure 2. EEG of our patient. In a bipolar longitudinal montage, the red curves depict the right hemisphere, the blue curves depict the left hemisphere, and the black curves depict the midline. (A) The EEG was recorded at the onset of the More about this image found in EEG of our patient. In a bipolar longitudinal montage, the red curves depi...
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Patient flow chart. We divided these 74 patients into two groups: (1) the severe sequelae group, which included patients who died or were in a state of brain death, and (2) the mild sequelae group, which included patients who were discharged with neurological comorbidities.
Published: 04 February 2026
Figure 3. Patient flow chart. We divided these 74 patients into two groups: (1) the severe sequelae group, which included patients who died or were in a state of brain death, and (2) the mild sequelae group, which included patients who were More about this image found in Patient flow chart. We divided these 74 patients into two groups: (1) the ...
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A comparison of laboratory data. (A and C) CSF protein and D-dimer tended to be higher in the death or severe sequelae group, but no significant difference was observed (A: P = 0.200, C: P = 0.076). (B) Patients in the death or severe sequelae group showed significantly higher CRP levels in blood tests than in the discharge from hospital (P = 0.005). (D and E) Due to the limited data, no significant differences were observed for procalcitonin and blood IL-6 levels.
Published: 04 February 2026
Figure 4. A comparison of laboratory data. (A and C) CSF protein and D-dimer tended to be higher in the death or severe sequelae group, but no significant difference was observed (A: P = 0.200, C: P = 0.076). (B) Patients in the death or More about this image found in A comparison of laboratory data. (A and C) CSF protein and D-dimer tended ...
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Kaplan–Meier survival curves in the severe sequelae group. (A) The Kaplan–Meier curve of the patients in the severe sequelae group (n = 14) is shown. The numbers below the Kaplan–Meier curve represent the number of patients who remained alive at each time point after disease onset. Among the patients in the severe group, data were available for 14 individuals, almost all of whom died or progressed to brain death within one month after onset. The shaded area indicates the 95% confidence interval. (B) Patients in the severe sequelae group were divided into two subgroups: with hemorrhage (red, n = 10) and without hemorrhage (green, n = 4). Kaplan–Meier survival curves were plotted for each subgroup. The numbers below the curves indicate the number of patients who remained alive at each time after disease onset. Patients without hemorrhage tended to have shorter survival times than those with hemorrhage, but due to the small sample size, no statistically significant difference was observed between the two groups (P = 0.05). The shaded areas indicate the 95% confidence intervals.
Published: 04 February 2026
Figure 5. Kaplan–Meier survival curves in the severe sequelae group. (A) The Kaplan–Meier curve of the patients in the severe sequelae group (n = 14) is shown. The numbers below the Kaplan–Meier curve represent the number of patients who More about this image found in Kaplan–Meier survival curves in the severe sequelae group. (A) The Kaplan–...
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Baseline characteristics of the study population. The cohorts consisting of individuals from a Danish cohort (n = 318) and an American cohort (n = 292) diagnosed with HIV. Individual data at the time of inclusion for blood samples are shown. (A) Stacked bar charts showing the age distribution of individuals in the Danish and American cohorts, stratified by sex. Age was available for 296/318 (93%) individuals in the Danish cohort and 292/292 (100%) individuals in the American cohort. (B) Summary table detailing characteristics from each cohort, including total number of individuals, mean age, sex distribution, CD4+ T cell counts, and ART-treatment status. The Danish cohort included both ART-treated and ART-naive individuals, whereas all individuals in the American cohort were ART-naive.
Published: 30 January 2026
Figure 1. Baseline characteristics of the study population. The cohorts consisting of individuals from a Danish cohort (n = 318) and an American cohort (n = 292) diagnosed with HIV. Individual data at the time of inclusion for blood samples are More about this image found in Baseline characteristics of the study population. The cohorts consisting o...
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Capacity of plasma samples from individuals with HIV to neutralize IFN-I. Plasma samples from individuals with HIV-1 infection tested for their ability to neutralize five different conditions of IFN-I by applying plasma to HEK293T cells for 16 h. Neutralization was defined as a response below 15% of normalized relative luciferase activity (RLA ratio), represented as a dotted line in each panel. All samples were tested once in a dual luciferase assay. (A–C) RLA ratio (%) plotted, with values below 15% indicating neutralization. Each panel represents samples tested at the specific IFN-I condition as specified. (D–F) Pie charts summarizing the percentage and combination of IFN-I conditions neutralized per individual plasma sample.
Published: 30 January 2026
Figure 2. Capacity of plasma samples from individuals with HIV to neutralize IFN-I . Plasma samples from individuals with HIV-1 infection tested for their ability to neutralize five different conditions of IFN-I by applying plasma to HEK293T More about this image found in Capacity of plasma samples from individuals with HIV to neutralize IFN-I ...
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New families with MSMD and MCTS1 variants. (A) Family pedigrees with allele segregation for the four MSMD patients (black) hemizygous for the MCTS1 variants c.509T>G, c.525G>A c.164+1_164+4GTAAdel, and c.178del, who suffered from BCG-osis (P1–P3) or M. abscessus infectious disease (P4). WT: wild-type, E?, unknown genotype; M, mutated; y, Y chromosome. (B) Summary of all the variants of MCTS1 reported to date. (C) Diagram of organ/system infections observed in MCTS1-deficient patients in this report and in a previous study (8). CNS: central nervous system, GI: gastrointestinal.
Published: 30 January 2026
Figure 1. New families with MSMD and MCTS1 variants. (A) Family pedigrees with allele segregation for the four MSMD patients (black) hemizygous for the MCTS1 variants c.509T>G, c.525G>A c.164+1_164+4GTAAdel, and c.178del, who suffered from More about this image found in New families with MSMD and MCTS1 variants. (A) Family pedigrees with allel...
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Functional investigation of the new MCTS1 variants. (A) Predicted structure of the MCTS1 protein with the domain of unknown function 1947 (DUF1947) and the pseudouridine synthase and archaeosine transglycosylase (PUA) domains for WT protein, the synthetic LOF variant p. A109D, and the patient variants p.L170* (P1), p.W175* (P2), and predicted p.E60Kfs5* (P4). The numbers annotated for the WT MCTS1 protein correspond to the first and last amino acids of the MCTS1 protein, the DUF1947, and PUA domains. The variants of MCTS1 are shown in red. (B) Western blot of WT and MCTS1-KO HeLa cells after transfection with EV, WT MCTS1 (pWT), or the MCTS1 variants p.E60Kfs5* (pE60Kfs5*), p.L170* (pL170*), p.W175* (pW175*), and p.A109D (pA109D). Details are provided in Table S2. Non-transfected HeLa cells (“−”) were used as a negative control. (C) Schematic diagram of the Fluc and lamin B + stuORF reporters used to assess MCTS1 activity. stuORF, synthetic strong Kozak uORF. Modified from (8). (D) Activity of the MCTS1 variants in the luciferase translation reinitiation assay after the transfection of WT and MCTS1-KO cells with EV, WT MCTS1 or the various MCTS1 variants (p.E60Kfs5* p.L170*, W175*, and p.A109D; see details in Table S2). Bars: Mean and standard deviation of three technical replicates, represented as turquoise dots. This experiment is representative of the three biological replicates. The asterisks indicate the level of significance, as assessed in a one-way ANOVA with Tukey’s test for multiple comparisons and adjustment for multiple testing (*P < 0.05; **P < 0.005). (E) Sanger sequencing confirmation of KI of the MCTS1 W175* variant and silent L174L variants in HEK293T cells. (F) Western blot of HEK293T cells subjected to genome editing to introduce MCTS1 KO in a pooled manner or MCTS1 W175* KI with the indicated single-cell derived clones shown. (G) Quantitation of three independent western blots of the indicated cell lines. Statistical significance was assessed using two-sided Mann–Whitney tests. Source data are available for this figure: SourceData F2.
Published: 30 January 2026
Figure 2. Functional investigation of the new MCTS1 variants. (A) Predicted structure of the MCTS1 protein with the domain of unknown function 1947 (DUF1947) and the pseudouridine synthase and archaeosine transglycosylase (PUA) domains for WT More about this image found in Functional investigation of the new MCTS1 variants. (A) Predicted structur...
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