A5031649946- Immunodeficiency and Autoimmune Disorders
- Blood disorders and treatments
- Diabetes and associated disorders
- Blood groups and transfusion
- Chronic Lymphocytic Leukemia Research
- Immune Cell Function and Interaction
- Platelet Disorders and Treatments
- Pneumocystis jirovecii pneumonia detection and treatment
- T-cell and B-cell Immunology
- Cytomegalovirus and herpesvirus research
- COVID-19 and Mental Health
- Cystic Fibrosis Research Advances
- T-cell and Retrovirus Studies
- Parvovirus B19 Infection Studies
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Molecular Biology Techniques and Applications
- Celiac Disease Research and Management
- Viral gastroenteritis research and epidemiology
- Herpesvirus Infections and Treatments
- Pediatric health and respiratory diseases
- Animal health and immunology
- Genomics and Rare Diseases
- Allergic Rhinitis and Sensitization
- Immune Response and Inflammation
University of South Florida
2018-2025
Johns Hopkins All Children's Hospital
2022-2025
Johns Hopkins University
2022-2025
University of Tampa
2018-2021
University Hospital Carl Gustav Carus
2019
University of South Florida St. Petersburg
2018
Baylor College of Medicine
2011
National Institutes of Health
2000-2002
National Institute of Allergy and Infectious Diseases
2002
The recombination-activating genes (RAG) 1 and 2 are indispensable for diversifying the primary B cell receptor repertoire pruning self-reactive clones via editing in bone marrow; however, impact of RAG1/RAG2 on peripheral tolerance is unknown. Partial RAG deficiency (pRD) manifesting with late-onset immune dysregulation represents an 'experiment nature' to explore this conundrum. By studying development subset-specific repertoires pRD, we demonstrate that reduced activity impinges through...
Introduction Patients with activated PI3Kδ syndrome (APDS) may elude diagnoses for nearly a decade. Methods to hasten the identification of these patients, and other patients inborn errors immunity (IEIs), are needed. We sought demonstrate that querying electronic health record (EHR) systems by aggregating disparate signs into risk score can identify patients. developed structured query language (SQL) script using literature-validated APDS-associated clinical concepts mapped ICD-10-CM codes....
Background Primary immunodeficiency is common among patients with autoimmune cytopenia. Objective The purpose of this study to retrospectively identify key clinical features and biomarkers primary (PID) in pediatric cytopenias (AIC) so as facilitate early diagnosis targeted therapy. Methods Electronic medical records at a tertiary care center were reviewed. We selected 154 both AIC PID (n=17), or alone (n=137) for inclusion two cohorts. Immunoglobulin levels, vaccine titers, lymphocyte...
Background and aims There is an increased risk of lymphomas in inborn errors immunity (IEI); however, germline genetic testing rarely used oncological patients, even those with early onset cancer. Our study focuses on a child recombination-activating gene 1 ( RAG1 ) deficiency who was identified through screening program for Slavic founder variants among patients died malignancy at age Belarus. Results We one homozygous variant out 24 available DNA samples from 71 developed lymphoma aged...
In the era of newborn screening (NBS) for severe combined immunodeficiency (SCID) and possibility gene therapy, it is important to link SCID phenotype underlying genetic disease. western countries, X-linked IL-2 receptor gamma chain (IL2RG) adenosine deaminase (ADA) deficient are most common types can be treated by therapy. As a challenge, both IL2RG ADA genes highly polymorphic gene–based diagnosis may difficult if variant unknown significance or located in non-coding areas that not...
Proteins expressed by recombination activating genes 1 and 2 (RAG1/2) are essential in the process of V(D)J that leads to generation T B cell repertoires. Clinical immunological phenotypes patients with RAG deficiencies correlate well degree impaired activity this has been expanding variants combined immunodeficiency (CID) or even milder antibody deficiency syndromes. Pathogenic severely impair recombinase RAG1/2 determine a severe (SCID) phenotype, whereas hypomorphic result leaky (partial)...
Patients with inborn errors of immunity (IEI) have increased risk developing cancers secondary to impaired anti-tumor immunity. Treatment patients IEI and cancer is challenging as chemotherapy can exacerbate infectious susceptibility. However, the literature on optimal treatment in setting sparse.We present a patient specific antibody deficiency normal immunoglobins (SADNI), immune dysregulation (ID), stage III ovarian carcinoma an example need modify conventional context malignancy, IEI,...
Abstract We treated three pediatric cardiac transplant patients with chronic parvovirus viremia high-dose intravenous immunoglobulin (HD-IVIG). One patient severe T-cell lymphopenia suffered recurrent and aseptic meningitis, which resolved remarkably when he was switched to hyaluronidase-facilitated subcutaneous (HD-SCIG-Hy). discuss the advantages of HD-SCIG-Hy vs HD-IVIG treatment for similar cases.
Decades of data on the developmental origins health and disease underlie observation that intrauterine growth restriction (IUGR) gives rise to later in life risk dysregulated lipid metabolism, glucose homeostasis, insulin resistance, atherosclerotic disease. These effects can be observed across generations are thought occur association with modified epigenomic regulatory mechanisms. Animal models IUGR from our laboratory others reveal these changes include gene-specific DNA methylation...