A5060277545- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- Chronic Kidney Disease and Diabetes
- Dialysis and Renal Disease Management
- Family Business Performance and Succession
- Cytokine Signaling Pathways and Interactions
- Chronic Lymphocytic Leukemia Research
- Diabetes and associated disorders
- Birth, Development, and Health
- Blood disorders and treatments
- Adenosine and Purinergic Signaling
- Entrepreneurship Studies and Influences
- Renal and Vascular Pathologies
- Immune responses and vaccinations
- Sepsis Diagnosis and Treatment
- Genetics and Neurodevelopmental Disorders
- interferon and immune responses
- Gastroesophageal reflux and treatments
- Cooperative Studies and Economics
- Metastasis and carcinoma case studies
- Inflammasome and immune disorders
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Psoriasis: Treatment and Pathogenesis
- Muscle and Compartmental Disorders
Children's Hospital of Philadelphia
2022-2025
University of Pennsylvania
2022-2025
Philadelphia University
2024
Australian National University
2022
Universität Innsbruck
2022
University Children's Hospital Zurich
2017-2021
Boston Children's Hospital
2015
University Hospital of Zurich
2013
Summary Mutations affecting recombination activation genes RAG1 and RAG2 are associated with variable phenotypes, depending on the residual recombinase activity. The aim of this study is to describe a variety clinical phenotypes in RAG-deficient patients from highly consanguineous Egyptian population. Thirty-one RAG mutations (from 28 families) were included 2013 2017. On basis clinical, immunological genetic data, subdivided into three groups; classical T–B– severe combined immunodeficiency...
We recently demonstrated that removal of one kidney (uninephrectomy [UniNx]) in mice reduced high-fat diet (HFD)-induced adipose tissue inflammation, thereby improving and hepatic insulin sensitivity. Of note, circulating cystatin C (CysC) levels were increased UniNx compared with sham-operated mice. Importantly, CysC may have anti-inflammatory properties, reported to positively correlate obesity humans as shown here HFD-fed However, the causal relationship such observation remains unclear....
Sepsis is the leading cause of death hospitalized children worldwide. Despite established link between immune dysregulation and mortality in pediatric sepsis, it remains unclear which host factors contribute causally to adverse sepsis outcomes. Identifying modifiable pathobiology an essential first step successful translation biologic insights into precision therapeutics. We designed a prospective, longitudinal cohort study 88 critically ill patients with multiple organ dysfunction syndrome...
Summary Severe combined immunodeficiency (SCID) is fatal if not treated with immune reconstitution. In Egypt, T-B+ SCID accounts for 38·5% of diagnoses. An accurate genetic diagnosis essential choosing appropriate treatment modalities and offering counseling to the patient's family. The objectives this study were describe clinical, immunological molecular characteristics a cohort twenty Egyptian patients SCID. initial (based on clinical features flow cytometry) was followed by investigation...
Surgical treatment of esophageal atresia (EA) has markedly improved, allowing the focus to shift from short-term complications and mortality long-term quality life. Health-related life (HRQoL) is variable reported range reduced unimpaired in patients with repaired EA. We assessed HRQoL, determined prevalence their possible impact on HRQoL who had correction EA Switzerland. Further, we also investigated general well-being parents. Patients repair Switzerland between 1985 2011 were enrolled....
Abstract Regulation of T cell signaling is paramount to mount an appropriate immune response and protect the host from pathophysiology. Here, we study impact on CD8+ cells in monogenic inborn error immunity patients exhibiting dysregulated signal 3 (cytokine signaling) pathways resulting STAT3 gain- or loss-of-function variants (STAT3 GOF LOF). Using high dimensional profiling, demonstrate increased expression ectoenzyme, CD39, which hydrolyzes extracellular ATP, patient cells. Moreover, two...
Signal transduction downstream of activating stimuli controls CD8+ T cell biology, however these external inputs can become uncoupled from transcriptional regulation in Primary Immune Regulatory Disorders (PIRDs). Gain-of-function (GOF) variants STAT3 amplify cytokine signaling and cause a severe PIRD characterized by early onset autoimmunity, lymphoproliferation, recurrent infections, immune dysregulation. In both primary human mouse models GOF, cells have been implicated as pathogenic...
Key Points FAS-dependent apoptosis in Vδ1 T cells makes the latter possible culprits for lymphadenopathy observed patients with FAS mutations. Rapamycin and methylprednisolone resistance should prompt clinicians to look cell proliferation ALPS-FAS patients.
Inborn errors of immunity (IEI) are monogenic disorders that can cause diverse symptoms, including recurrent infections, autoimmunity and malignancy. While many factors have contributed, the increased availability next-generation sequencing has been central in remarkable increase identification novel IEI over past years. Throughout this phase disease discovery, it also become evident a given gene variant does not always yield consistent phenotype, while variants seemingly disparate genes...
We recently demonstrated that removal of one kidney (uninephrectomy; UniNx) in mice reduced high fat-diet (HFD)-induced adipose tissue inflammation thereby improving and hepatic insulin sensitivity. Of note, circulating cystatin C (CysC) levels were increased UniNx compared to sham-operated mice. Importantly, CysC may have anti-inflammatory properties, reported positively correlate with obesity humans as shown herein HFD-fed However, the causal relationship such observation remains unclear....
Whether and to what extent socioemotional wealth (SEW) influences family firm internationalisation is currently a highly debated topic in business research. We add the network approach debate and, specifically, investigate whether networks affect internationalisation. also examine how international entrepreneurial orientation (IEO), as an internal factor, coopetition, external mediate that relationship. test our hypotheses on sample of 122 internationally active firms. Our main findings...