Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients

The European Society for Immunodeficiencies patient registry (ESID-R), established in 1994, is one of the world’s largest databases on inborn errors of immunity (IEI). IEI are genetic disorders predisposing patients to infections, autoimmunity, inflammation, allergies, and malignancies. Treatments include antimicrobial therapy, immunoglobulin replacement, immune modulation, stem cell transplantation, and gene therapy. Data from 194 centers in 33 countries capture clinical manifestations and treatments from birth onward, with annually expected updates. This report reviews the ESID-R’s structure, data content, and impact. The registry includes 30,628 patient datasets (aged 0–97.9 years; median follow-up: 7.2 years; total 825,568.2 patient-years), with 13,550 cases in 15 sub-studies. It has produced 84 peer-reviewed publications (mean citation rate: 95). Findings include real-world observations of IEI diagnoses, genetic causes, clinical manifestations, treatments, and survival trends. The ESID-R fosters global collaboration, advancing IEI research and patient care. This report highlights the key role of the multinational ESID-R, led by an independent medical society, in evidence-based discovery

Hyperpolarized 1H long lived states originating from parahydrogen accessed by rf irradiation

Hyperpolarization has found many applications in Nuclear Magnetic Resonance (NMR) and Magnetic Resonance Imaging (MRI). However, its usage is still limited to the observation of relatively fast processes because of its short lifetimes. This issue can be circumvented by storing the hyperpolarization in a slowly relaxing singlet state. Symmetrical molecules hyperpolarized by Parahydrogen Induced Hyperpolarization (PHIP) provide a straightforward access to hyperpolarized singlet states because the initial parahydrogen singlet state is preserved at almost any magnetic field strength. In these systems, which show a remarkably long 1H singlet state lifetime of several minutes, the conversion of the NMR silent singlet state to observable magnetization is feasible due to the existence of singlet-triplet level anti-crossings. Here, we demonstrate that scaling the chemical shift Hamiltonian by rf irradiation is sufficient to transform the singlet into an observable triplet state. Moreover, because the application of one long rf pulse is only partially converting the singlet state, we developed a multiconversion sequence consisting of a train of long rf pulses resulting in successive singlet to triplet conversions. This sequence is used to measure the singlet state relaxation time in a simple way at two different magnetic fields. We show that this approach is valid for almost any magnetic field strength and can be performed even in the less homogeneous field of an MRI scanner, allowing for new applications of hyperpolarized NMR and MRI.Fil: Franzoni, Maria Belen. Max Planck Institute for Polymer Research; Alemania. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Graafen, D.. Max Planck Institute for Polymer Research; Alemania. Johannes Gutenberg University Medical Center; AlemaniaFil: Buljubasich Gentiletti, Lisandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Física Enrique Gaviola. Universidad Nacional de Córdoba. Instituto de Física Enrique Gaviola; ArgentinaFil: Schreiber, L. M.. Johannes Gutenberg University Medical Center; AlemaniaFil: Spiess, H. W.. Max Planck Institute for Polymer Research; AlemaniaFil: Münnemann, K.. Max Planck Institute for Polymer Research; Alemani

Ultra-high resolution coronary CT angiography on photon-counting detector CT: bi-centre study on the impact of quantum iterative reconstruction on image quality and accuracy of stenosis measurements

Purpose: To assess the impact of different quantum iterative reconstruction (QIR) levels on objective and subjective image quality of ultra -high resolution (UHR) coronary CT angiography (CCTA) images and to determine the effect of strength levels on stenosis quantification using photon -counting detector (PCD)-CT. Method: A dynamic vessel phantom containing two calcified lesions (25 % and 50 % stenosis) was scanned at heart rates of 60, 80 and 100 beats per minute with a PCD-CT system. In vivo CCTA examinations were performed in 102 patients. All scans were acquired in UHR mode (slice thickness0.2 mm) and reconstructed with four different QIR levels (1 - 4) using a sharp vascular kernel (Bv64). Image noise, signal-to-noise ratio (SNR), sharpness, and percent diameter stenosis (PDS) were quantified in the phantom, while noise, SNR, contrast -tonoise ratio (CNR), sharpness, and subjective quality metrics (noise, sharpness, overall image quality) were assessed in patient scans. Results: Increasing QIR levels resulted in significantly lower objective image noise (in vitro and in vivo: both p < 0.001), higher SNR (both p < 0.001) and CNR (both p < 0.001). Sharpness and PDS values did not differ significantly among QIRs (all pairwise p > 0.008). Subjective noise of in vivo images significantly decreased with increasing QIR levels, resulting in significantly higher image quality scores at increasing QIR levels (all pairwise p < 0.001). Qualitative sharpness, on the other hand, did not differ across different levels of QIR (p = 0.15). Conclusions: The QIR algorithm may enhance the image quality of CCTA datasets without compromising image sharpness or accurate stenosis measurements, with the most prominent benefits at the highest strength level