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Journal Articles
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Medical imaging of the head and neck showing carotid artery inflammation at diagnosis and after treatment.
Published: 25 March 2026
Figure 1. Imaging of perivascular inflammation of the left internal carotid artery at diagnosis and at 4 wk of treatment. (A–F) At diagnosis: circumferential parietal thickening (white arrows) of the left carotid artery wall on axial cervical More about this image found in Imaging of perivascular inflammation of the left internal carotid artery at...
Journal Articles
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A flowchart shows the evolution of genetic techniques used for I E I diagnosis, comparing traditional methods and current N G S strategies.
Published: 20 March 2026
Figure 1. Summary of the evolution of genetic techniques used for IEI diagnosis. CNV, copy-number variant; NGS: next-generation sequencing; SVs: structural variants; TGPs: targeted gene panels; VUS: variants of uncertain significance; WES: More about this image found in Summary of the evolution of genetic techniques used for IEI diagnosis. CNV...
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A diagram shows the six sections in I E I genetic testing.
Published: 20 March 2026
Figure 2. Key considerations in IEI genetic testing. A diagram shows the six sections in I E I genetic testing. The diagram is divided into six sections, each with a specific focus. Section 1, labeled “Targeted Approach,” emphasizes More about this image found in Key considerations in IEI genetic testing. A diagram shows the six sect...
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Diagram of genetic counseling in I E I.
Published: 20 March 2026
Figure 3. Summary of communication and counseling. GoF: gain-of-function; LoF: loss-of-function. Diagram of genetic counseling in I E I. Diagram titled “Keys of Genetic Counseling in I E I” divided into three main sections: Pre-Test More about this image found in Summary of communication and counseling. GoF: gain-of-function; LoF: loss-...
Journal Articles
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Diagram of A P O L 1 protein structure showing helices, hydrophobic clusters, leucine zippers, and functional domains.
Published: 19 March 2026
Figure 1. Structural features of APOL1. This scheme represents the secreted APOL1 isoform after removal of its specific N-terminal signal peptide. It also summarizes the structure of the other human APOLs or mAPOLs, none of which appears to be More about this image found in Structural features of APOL1. This scheme represents the secreted APOL1 is...
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Diagram of A P O L 1 and A P O L 3 involvement in inflammation and antigen cross-presentation.
Published: 19 March 2026
Figure 2. APOL1 and APOL3 involvement in inflammation and antigen cross-presentation. The cellular detection of pathogen DNA triggers activation, then degradation, of the inflammation stimulator STING. This occurs through PI4P-mediated More about this image found in APOL1 and APOL3 involvement in inflammation and antigen cross-presentation....
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Table comparing amino acid sequences of A P O L proteins with highlighted regions and specific residues.
Published: 19 March 2026
Figure 3. The APOL membrane-addressing domain. Identical or similar amino acids shared between most APOLs are highlighted in grey. Despite sequence divergence with other MAD isoforms, the (m)APOL6 and mAPOL9 MADs can also be structured in a More about this image found in The APOL membrane-addressing domain. Identical or similar amino acids shar...
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Diagram illustrating the synergistic activities of A P O L 3 and G B P 1 proteins in permeabilizing intracellular bacterial membranes.
Published: 19 March 2026
Figure 4. Synergistic APOL3 and GBP1 activities. Both proteins participate in the permeabilization of intracellular bacterial membranes ( 11 ). Given their common interaction properties (double arrowheads), they could hypothetically also More about this image found in Synergistic APOL3 and GBP1 activities. Both proteins participate in the pe...
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Table showing human defenses against trypanosome parasites, diseases caused, and locations.
Published: 19 March 2026
Figure 5. Molecular ‘arms race’ between African trypanosomes and humans. Human ancestors produced a secreted version of APOL1 to kill the bloodstream parasite T. brucei brucei ( 9 ). Two T. brucei brucei clones, known as T. brucei rhodesiense More about this image found in Molecular ‘arms race’ between African trypanosomes and humans. Human ances...
Journal Articles
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An image contains a pedigree chart, an X-ray, a growth chart, and a CT scan, illustrating clinical findings in two children with a NCKAP1L mutation.
Published: 17 March 2026
Figure 1. Clinical details of the patients with a pedigree, images and percentiles . (A) Pedigree of the patient family with a homozygous NCKAP1L mutation identified in both affected children P1 and P2. (B) X-ray with massive More about this image found in Clinical details of the patients with a pedigree, images and percentiles ....
Journal Articles
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Auto-Abs neutralizing type I IFNs in 318 WNV-infected individuals from seven new cohorts. (A) Age and sex distribution of individuals in the WNVIC, WNVF, and WNVD groups. (B) Detection of auto-Abs against IFN-α2, IFN-β, and IFN-ω by ELISA. An OD value >0.5 (dashed line) indicates a sample considered positive based on the signal typically observed for serum/plasma from healthy donors. (C) Luciferase-based neutralization assay for the detection of auto-Abs neutralizing 10 ng/ml IFN-α2, IFN-ω, or IFN-β. Neutralizing activity was defined as a luciferase signal below 15%. (D) Luciferase-based neutralization assay for detecting auto-Abs neutralizing 100 pg/ml IFN-α2 or IFN-ω, or 1 ng/ml IFN-β. Neutralizing activity was defined as a luciferase signal below 15%.
Published: 13 March 2026
Figure 1. Auto-Ab s neutralizing type I IFNs in 318 WNV-infected individuals from seven new cohorts. (A) Age and sex distribution of individuals in the WNVIC, WNVF, and WNVD groups. (B) Detection of auto-Abs against IFN-α2, IFN-β, and IFN-ω More about this image found in Auto-Ab s neutralizing type I IFNs in 318 WNV-infected individuals from se...
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Proportions of individuals with auto-Abs neutralizing type I IFNs in seven new cohorts. (A and B) Frequency of individuals carrying auto-Abs neutralizing type I IFNs at concentrations of 10 ng/ml (A) or 100 pg/ml (B), as determined in luciferase-based neutralization assays, in the three defined groups of WNV-infected individuals: WNVIC, WNVF, and WNVD. IFN-α, auto-Abs neutralizing IFN-α2 (regardless of their effects on other IFNs); IFN-ω, auto-Abs neutralizing IFN-ω (regardless of their effects on other IFNs); IFN-α ± ω ± β, auto-Abs neutralizing IFN-α2 and/or IFN-ω and/or IFN-β; IFN-α + ω, auto-Abs neutralizing both IFN-α2 and IFN-ω. (C) Number of type I IFNs neutralized in the three groups of WNV-infected individuals (WNVIC, WNVF, and WNVD), as determined with the luciferase-based neutralization assay. (D) Proportion of type I IFNs neutralized in the three groups of WNV-infected individuals (WNVIC, WNVF, and WNVD) according to the nature and combination of auto-Abs.
Published: 13 March 2026
Figure 2. Proportions of individuals with auto-Abs neutralizing type I IFNs in seven new cohorts. (A and B) Frequency of individuals carrying auto-Abs neutralizing type I IFNs at concentrations of 10 ng/ml (A) or 100 pg/ml (B), as determined in More about this image found in Proportions of individuals with auto-Abs neutralizing type I IFNs in seven ...
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Numbers of patients with auto-Abs neutralizing type I IFNs by center, year of enrollment, and lineage in 13 cohorts from five countries. (A) Distribution by year (x axis), recruitment center (colors), and infecting WNV virus lineage (WNV-1, dashed boxes; WNV-2, dotted boxes) of the individuals with WNVD recruited. Of the 666 patients with WNVD, 423 were recruited in Italy: 116 in Pavia (20 in 2018, 50 in 2022, and 46 in 2023), 196 in Padua (89 in 2018 and 107 in 2022), 58 in Bologna (47 in 2022 and 11 in 2023), 40 in Turin (29 in 2018 and 11 in 2022), and 13 in Milan (13 in 2023); 99 patients were recruited in Budapest, Hungary (20 in 2018, 11 in 2019, and 68 in 2024); 32 were recruited in Tel Aviv, Israel, in 2024; 31 were recruited in Vienna, Austria, between 2015 and 2024; and 81 were recruited in Houston, Texas, USA, between 2002 and 2010. In total, 84/666 (13%) patients were recruited between 2002 and 2017, 165/666 (25%) were recruited in 2018, 12/666 (18%) were in 2019, 1/666 was recruited in 2021, 217/666 (33%) were recruited in 2022, 71/666 (11%) were recruited in 2023, and 116/666 (17%) were recruited in 2024. (B) Number of individuals with auto-Abs neutralizing at least one type I IFN at a concentration of 100 pg/ml (IFN-α2 and IFN-ω) or 1 ng/ml (IFN-β) in subgroups of WNND patients: WNE, WNM, AFP, and UNS, by WNV lineage. (C and D) Number and prevalence of individuals with auto-Abs neutralizing at least one type I IFN at a concentration of 100 pg/ml (IFN-α2 and IFN-ω) or 1 ng/ml (IFN-β) in the three groups of individuals infected with WNV (WNVIC, WNVF, and WNVD), by enrollment center. (E and F) Number and prevalence of individuals with auto-Abs neutralizing at least one type I IFN at a concentration of 100 pg/ml (IFN-α2 and IFN-ω) or 1 ng/ml (IFN-β) in the three groups of individuals infected with WNV (WNVIC, WNVF, and WNVD), by enrollment year. WNND, WNV neuroinvasive disease, a subset of WNVD; WNE, WNV encephalitis; WNM, WNV meningitis; AFP, acute flaccid paralysis; UNS, unspecified neurological syndrome (subsets of WNND group).
Published: 13 March 2026
Figure 3. Numbers of patients with auto-Abs neutralizing type I IFNs by center, year of enrollment, and lineage in 13 cohorts from five countries. (A) Distribution by year (x axis), recruitment center (colors), and infecting WNV virus lineage More about this image found in Numbers of patients with auto-Abs neutralizing type I IFNs by center, year ...
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Proportions of patients with auto-Abs neutralizing type I IFNs by sex and age in 13 cohorts from five countries. (A) Prevalence of individuals with auto-Abs neutralizing at least one type I IFN at a concentration of 100 pg/ml (IFN-α2 and IFN-ω) or 1 ng/ml (IFN-β) in the three groups of individuals infected with WNV (WNVIC, WNVF, and WNVD), by sex. (B) Prevalence of individuals with auto-Abs neutralizing at least one type I IFN at a concentration of 100 pg/ml (IFN-α2 and IFN-ω) or 1 ng/ml (IFN-β) in the three groups of WNV-infected individuals (WNVIC, WNVF, and WNVD), by age class.
Published: 13 March 2026
Figure 4. Proportions of patients with auto-Abs neutralizing type I IFNs by sex and age in 13 cohorts from five countries. (A) Prevalence of individuals with auto-Abs neutralizing at least one type I IFN at a concentration of 100 pg/ml (IFN-α2 More about this image found in Proportions of patients with auto-Abs neutralizing type I IFNs by sex and a...
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Frequency of auto-Abs against type I IFNs in the WNVIC, WNVF, and WNVD groups and the two WNVD subgroups (WNVD without evidence of neuroinvasive disease and WNND) relative to the general population in the seven new cohorts and the overall study population consisting of all 13 cohorts. Horizontal bars represent the 95% CI limits. IFN-α, auto-Abs neutralizing IFN-α2 (regardless of effects on other IFNs); IFN-ω, auto-Abs neutralizing IFN-ω; IFN-α ± ω ± β, auto-Abs neutralizing IFN-α2 and/or IFN-ω and/or IFN-β; IFN-α + ω, auto-Abs neutralizing both IFN-α2 and IFN-ω; WNND, WNV neuroinvasive disease. ns, nonsignificant; ****P < 10−4.
Published: 13 March 2026
Figure 5. Frequency of auto-Abs against type I IFNs in the WNVIC, WNVF, and WNVD groups and the two WNVD subgroups (WNVD without evidence of neuroinvasive disease and WNND) relative to the general population in the seven new cohorts and the More about this image found in Frequency of auto-Abs against type I IFNs in the WNVIC, WNVF, and WNVD grou...

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