- Primary Immunodeficiency Diseases
- Food Allergy
- Allergic Rhinitis
- Drug Allergy
- Medication desensitization therapy
- Allergy testing
Clinical Instructor, Pediatrics - Immunology and Allergy
Fellowship:Stanford University Allergy and Immunology Fellowship (2018) CA
Board Certification: Pediatrics, American Academy of Pediatrics (2016)
Residency:UCLA David Geffen School Of Medicine Registrar (2016) CA
Medical Education:Loyola University Stritch School of Medicine (2013) IL
Current Research and Scholarly Interests
Schimke Immuno-Osseous Dysplasia (SIOD) is a rare disease that is inherited when children receive two mutated copies of the gene SMARCAL1, one from each parent. SIOD begins in early childhood and causes significant disease, including kidney failure leading to a need for kidney transplantation, stokes, growth delay, cartilage and bone malformations, and recurrent infections due to defects in their immune system. There is currently no cure for children with SIOD. Current therapies only treat the symptoms of the disease; they are not curative and they may not slow or prevent worsening of SIOD. While we know the gene that causes this disease, there are significant knowledge gaps about exactly how mutations in the SMARCAL1 gene lead to problems in so many organs including the kidneys, bones/cartilage, immune system, and vascular system.
As an immunologist, my research lies in better understanding how mutations in SMARCAL1 lead to changes in all of these organs and organ systems, with the ultimate goal of improving treatment options for children with SIOD. T-cell development and function in these children is particularly impaired. In fact, a vast majority of these children develop clinically significant immune deficiency and suffer from recurrent infections by the time they reach mid-childhood. By examining the structure of the SMARCAL1 gene, the protein produced by the SMARCAL1 gene, and the network of other proteins that it interacts with in the t cells of these children, we can better understand the mechanism of disease. These insights into t-cell development and protein expression in patients with SIOD may also enhance our understanding of other t-cell immunodeficiency diseases.
Telomeres are segments of DNA at the end of chromosomes that act as a protective “cap” against degradation. Each time the cell divides, the telomere sequence is not completely copied, leading to shorter telomere segments with each round of DNA replication. Abnormally shortened telomeres have been associated with aging, cancer, and many other chronic diseases such as diabetes mellitus. This research investigates telomere length maintenance in a disease called Schimke Immuno-Osseous Dysplasia (SIOD). If patients with SIOD have impaired telomere maintenance, then potential therapies targeted at enhancing telomere length/maintenance could be explored. This would open up a whole new area of potential therapy. Additionally, defining the role of SMARCAL1 in telomere maintenance may have general implications for other diseases in which telomere instability has been described, including cancer and diabetes.
Graduate and Fellowship Programs
Allergy/Immunology (Fellowship Program)
Telomeres in Schimke Immuno-Osseous Dysplasia: Comparing Telomere Length in Individuals with Homozygous and Heterozygous SMARCAL1 Mutations
SPRINGER/PLENUM PUBLISHERS. 2019: S70–S71
View details for Web of Science ID 000463709600109
- The Clinical Spectrum of Hypomorphic IL2RG Severe Combined Immunodeficiency (SCID) MOSBY-ELSEVIER. 2019: AB119
Paraneoplastic and Therapy-Related Immune Complications in Thymic Malignancies.
Current treatment options in oncology
2019; 20 (7): 62
The thymus is a key organ involved in establishing central immune tolerance. Thymic epithelial tumors (TETs) include thymomas and thymic carcinomas. Thymomas, which are histologically distinct from thymic carcinomas, lead to dysregulated thymopoiesis via decreased thymic epithelial expression of AIRE and MHC Class II, as well as via alterations in thymic architecture, thereby resulting in autoimmune complications that manifest as paraneoplastic disorders (PNDs). Although progress has been made in elucidating the mechanisms underlying thymoma-associated PNDs, there remains a great need to further define the underlying mechanisms and to identify additional immune biomarkers, such as novel antibodies (in "seronegative" cases) to facilitate diagnosis and monitoring of patients. In addition, a better understanding of the pathogenesis of PNDs could lead to improved treatment strategies for both thymomas and their immune complications. In advanced, refractory cases of TETs (both thymoma and thymic carcinoma), additional therapeutic approaches are needed. Immune checkpoint inhibitors have revolutionized the treatment of several malignancies and hold promise in the treatment of TETs; however, the risks for immune-related adverse events (especially for inducing PNDs as well as in the setting of pre-existing PNDs) underscore the need to optimize patient selection and improve clinical management before there can be widespread acceptance of checkpoint inhibitor therapy in patients with TETs.
View details for DOI 10.1007/s11864-019-0661-2
View details for PubMedID 31227926
Needs Assessment Survey for a Food Allergy Control Tool.
The journal of allergy and clinical immunology. In practice
View details for PubMedID 30317004
Feasibility Survey for a Food Allergy Control Tool
American Academy of Allergy Asthma and Immunology
View details for DOI 10.1016/j.jaci.2017.12.960
Timing of Allergenic Food Introduction to the Infant Diet and Risk of Allergic or Autoimmune Disease: A Systematic Review and Meta-analysis
View details for DOI 10.1542/peds.2017-2475MM
Increasing Emergency Department Visits for Anaphylaxis, 2005-2014
View details for DOI 10.1542/peds.2017-2475CC
Medical Image Registration Using the Fourier Transform
International Journal of Medical Physics, Clinical Engineering and Radiation Oncology
2014; 3 (1): 49-55
View details for DOI 10.4236/ijmpcero.2014.31008