Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia.

Background: Agammaglobulinemia due to variants in IGLL1 has traditionally been considered an exceedingly rare form of severe B-cell deficiency, with only 8 documented cases in the literature. Surprisingly, the first agammaglobulinemic patient identified by newborn screening (NBS) through quantification of kappa-deleting recombination excision circles harbored variants in IGLL1.

Objective: We comprehensively reviewed clinical and immunologic findings of patients with B-cell deficiency attributed to variants in IGLL1.

European reference network for rare inherited congenital anomalies (ERNICA) evidence based guideline on the management of gastroschisis.

Background: The European Reference Network for rare Inherited Congenital Anomalies, ERNICA, guidelines for gastroschisis cover perinatal period to help teams to improve care.

Method: A systematic literature search including 136 publications was conducted. Research findings were assessed following the GRADE methodology.

Telomere biology disorders may manifest as common variable immunodeficiency (CVID).

Telomere biology disorders (TBD) are caused by germline pathogenic variants in genes related to telomere maintenance and are characterized by critically short telomeres. In contrast to classical dyskeratosis congenita (DC), which is typically diagnosed in infancy, adult or late onset TBD frequently lack the typical DC triad and rather show variable organ manifestations and a cryptic disease course, thus complicating its diagnosis. Common variable immunodeficiency (CVID), on the other hand, is a primary antibody deficiency (PAD) syndrome.

The link between rheumatic disorders and inborn errors of immunity.

Inborn errors of immunity (IEIs) are immunological disorders characterized by variable susceptibility to infections, immune dysregulation and/or malignancies, as a consequence of damaging germline variants in single genes. Though initially identified among patients with unusual, severe or recurrent infections, non-infectious manifestations and especially immune dysregulation in the form of autoimmunity or autoinflammation can be the first or dominant phenotypic aspect of IEIs. An increasing number of IEIs causing autoimmunity or autoinflammation, including rheumatic disease have been reported over the last decade.

Functional Evaluation of Intermediate Coronary Lesions with Integrated Computed Tomography Angiography and Invasive Angiography in Patients with Stable Coronary Artery Disease.

Background And Objectives: The hemodynamic evaluation of coronary stenoses undergoes a transition from wire-based invasive measurements to image-based computational assessments. However, fractional flow reserve (FFR) values derived from coronary CT angiography (CCTA) and angiography-based quantitative flow ratio have certain limitations in accuracy and efficiency, preventing their widespread use in routine practice. Hence, we aimed to investigate the diagnostic performance of FFR derived from the integration of CCTA and invasive angiography (FFR) with artificial intelligence assistance in patients with stable coronary artery disease (CAD).

The MK2 cascade mediates transient alteration in mGluR-LTD and spatial learning in a murine model of Alzheimer's disease.

A key aim of Alzheimer disease research is to develop efficient therapies to prevent and/or delay the irreversible progression of cognitive impairments. Early deficits in long-term potentiation (LTP) are associated with the accumulation of amyloid beta in rodent models of the disease; however, less is known about how mGluR-mediated long-term depression (mGluR-LTD) is affected. In this study, we have found that mGluR-LTD is enhanced in the APP /PS1dE9 mouse at 7 but returns to wild-type levels at 13 months of age.

Multi-omics analysis of naïve B cells of patients harboring the C104R mutation in TACI.

Common variable immunodeficiency (CVID) is the most prevalent form of symptomatic primary immunodeficiency in humans. The genetic cause of CVID is still unknown in about 70% of cases. Ten percent of CVID patients carry heterozygous mutations in the tumor necrosis factor receptor superfamily member 13B gene (), encoding TACI.

Subjective Voice Handicap and Vocal Tract Discomfort in Patients With Cochlear Implant.

Objectives: Changes in the auditory system, for example due to hearing impairment, can cause changes in breathing, phonation, and articulation. Aim of this study was to provide first data on subjective Voice Handicap and Vocal Tract Discomfort in subjects with hearing impairment and cochlear implant (CI) after initial fitting.

Study Design: Prospective cross-sectional study METHODS: A total of 111 participants (57 female and 54 male) between 20 and 85 years of age (mean = 58.

Comparison of the Lung Clearance Index in Preschool Children With Primary Ciliary Dyskinesia and Cystic Fibrosis.

Background: Previous studies showed that the lung clearance index (LCI) determined by multiple-breath washout (MBW) is sensitive to detecting early lung disease in preschool children with cystic fibrosis (CF). In preschool children with primary ciliary dyskinesia (PCD), data on the onset and severity of lung disease and on the sensitivity of the LCI as a noninvasive quantitative outcome measure remain limited.

Research And Study Question: Is MBW feasible and sensitive to detect ventilation inhomogeneity in preschool children with PCD?

Study Design And Methods: This was a prospective, cross-sectional, multicenter study and included preschoolers with PCD, preschoolers with CF, and healthy control (HC) participants.

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.

Predominantly antibody deficiencies (PAD) are a heterogeneous group of disorders characterized by dysfunctional antibody production, low immunoglobulin levels in serum and impaired vaccine responses. The clinical picture is variable, ranging from mild symptoms to severe complications, which may include autoimmunity, gastrointestinal disease, allergy, and malignancies. If left untreated, PAD patients are at risk of enduring disease progression, irreversible organ damage, and reduced life expectancy.

CI decision making and expectations by older adults.

Objective: To document and analyze the cochlear implant (CI) decision-making process of hearing-impaired older adults. The aim of this study is to assess what support could be helpful during this process in order to improve care delivery.

Methods: 32 older adult CI recipients (≥ 60 years) with severe to profound sensorineural hearing loss were interviewed about their CI decision-making process 3-12 months after obtaining their first CI.

Unraveling the complexities of psoriatic arthritis by the use of -Omics and their relevance for clinical care.

-Omic technologies represent a novel approach to unravel ill-defined aspects of psoriatic arthritis (PsA). Large-scale information can be acquired from analysis of affected tissues in PsA via high-throughput studies in the domains of genomics, transcriptomics, epigenetics, proteomics and metabolomics. This is a critical overview of the current knowledge of -omics in PsA, with emphasis on the pathophysiological insights of diagnostic and therapeutic relevance, the advent of novel biomarkers and their potential use for precision medicine in PsA.

Lipoprotein-Associated Phospholipase A2: A Novel Contributor in Sjögren's Syndrome-Related Lymphoma?

Background: B-cell non-Hodgkin's lymphoma (B-NHL) is one of the major complications of primary Sjögren's syndrome (SS). Chronic inflammation and macrophages in SS minor salivary glands have been previously suggested as significant predictors for lymphoma development among SS patients. Lipoprotein-associated phospholipase A2 (Lp-PLA2)-a product mainly of tissue macrophages-is found in the circulation associated with lipoproteins and has been previously involved in cardiovascular, autoimmune, and malignant diseases, including lymphoma.

Comparison of stenosis models for usage in the estimation of pressure gradient across aortic coarctation.

Non-invasive estimation of the pressure gradient in cardiovascular stenosis has much clinical importance in assisting the diagnosis and treatment of stenotic diseases. In this research, a systematic comparison is conducted to investigate the accuracy of a group of stenosis models against the MRI- and catheter-measured patient data under the aortic coarctation condition. Eight analytical stenosis models, including six from the literature and two proposed in this study, are investigated to examine their prediction accuracy against the clinical data.

Anterior Locking Plate Osteosynthesis of Patellar Factures - Analysis of Complications and Functional Outcome.

Background: Tension band wiring is the standard procedure for patellar fractures, but is associated with a high rate of implant related complications and implant failure. Tension band wiring may fail, especially with multifragmentary and comminuted fractures. Plate fixation of complex patellar fractures seems to be superior to wiring, both clinically and biomechanically.

High Comorbidity Burden in Patients with SLE: Data from the Community-Based Lupus Registry of Crete.

Comorbidities and multimorbidity, often complicating the disease course of patients with chronic inflammatory rheumatic diseases, may be influenced by disease-intrinsic and extrinsic determinants including regional and social factors. We analyzed the frequency and co-segregation of self-reported comorbid diseases in a community-based Mediterranean registry of patients ( = 399) with systemic lupus erythematosus (SLE). Predictors for multimorbidity were identified by multivariable logistic regression, strongly-associated pairs of comorbidities by the Cramer's V-statistic, and comorbidities clusters by hierarchical agglomerative clustering.

The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiation.

Epigenetic landscapes can provide insight into regulation of gene expression and cellular diversity. Here, we examined the transcriptional and epigenetic profiles of seven human blood natural killer (NK) cell populations, including adaptive NK cells. The gene, encoding a transcription factor (TF) essential for T cell development and function, was the most extensively regulated, with expression increasing throughout NK cell differentiation.

Auditory performance in a group of elderly patients after cochlear implantation.

Purpose: The retrospective case review investigated the effect of cochlear implantation in subjects aged 61 years or older with respect to their auditory performance. The study also analysed the effect of age on the performance, and it drew a comparison between the outcomes of older and younger adults.

Methods: The outcome in a group of 446 patients aged 61 to 89 years at the time of unilateral cochlear implantation was compared with the outcome in a group of 110 patients aged 17 to 42 years.

Healthcare provision for insect venom allergy patients during the COVID-19 pandemic.

The population prevalence of insect venom allergy ranges between 3-5%, and it can lead to potentially life-threatening allergic reactions. Patients who have experienced a systemic allergic reaction following an insect sting should be referred to an allergy specialist for diagnosis and treatment. Due to the widespread reduction in outpatient and inpatient care capacities in recent months as a result of the COVID-19 pandemic, the various allergy specialized centers in Germany, Austria, and Switzerland have taken different measures to ensure that patients with insect venom allergy will continue to receive optimal allergy care.

Association of Country-Specific Socioeconomic Factors With Survival of Patients Who Experience Severe Classic Acute Graft-vs.-Host Disease After Allogeneic Hematopoietic Cell Transplantation. An Analysis From the Transplant Complications Working Party of the EBMT.

Acute graft-vs.-host disease (aGvHD) is one of the most frequent causes of transplant-related mortality (TRM) after allogeneic hematopoietic cell transplantation (alloHCT). Its treatment is complex and costly.

Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults.

Chronic granulomatous disease (CGD) is a primary immunodeficiency resulting in life-threatening infections and inflammatory complications. Allogeneic hematopoietic cell transplantation (allo-HCT) can cure the disease, but the indication to transplant remains controversial. We performed a retrospective multicenter study of 712 patients with CGD who underwent allo-HCT transplantation from March 1993 through December 2018.