Assoc Prof of Clin Pediatrics
M_PEDS-ALLERGY IMMUNOLOGY
I'm a pediatric immunologist and rheumatologist dedicated to improving our understanding of immune regulation to advance care for patients with immune system disorders. My clinical practice is focused on diagnosing and managing patients with complex or unknown immune system disorders. My research area is focused on studying genes that regulate the immune system. We utilize CRISPR/Cas9 to generate mouse models harboring human mutations to help elucidate the molecular mechanism driving disease.
Publications
Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease.
Journal of human immunity
Clinical spectrum of Wiskott-Aldrich syndrome carriers: Self-reported survey of 193 carriers.
Clinical immunology (Orlando, Fla.)
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2.
Genetics in medicine : official journal of the American College of Medical Genetics
Promoting Oral Health for Older Adults in the Asia-Pacific Region.
International dental journal
Improved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging.
Journal of human immunity
Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells.
The Journal of experimental medicine
Chronic Atypical Optic Disc Edema in a Boy With STAT3 Gain-of-Function Syndrome.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party.
Journal of clinical immunology
A human mutation in STAT3 promotes type 1 diabetes through a defect in CD8+ T cell tolerance.
The Journal of experimental medicine
The autoimmune targets in IPEX are dominated by gut epithelial proteins.
The Journal of allergy and clinical immunology
A large CRISPR-induced bystander mutation causes immune dysregulation.
Communications biology
Author Correction: Discovery of stimulation-responsive immune enhancers with CRISPR activation.
Nature
Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.
The Journal of clinical endocrinology and metabolism
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
The Journal of allergy and clinical immunology
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.
The Journal of experimental medicine
Central tolerance to self revealed by the autoimmune regulator.
Annals of the New York Academy of Sciences
B cell-intrinsic CD84 and Ly108 maintain germinal center B cell tolerance.
Journal of immunology (Baltimore, Md. : 1950)
Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.
Journal of clinical immunology
iTRAQ-based proteomic profiling of the marine medaka (Oryzias melastigma) gonad exposed to BDE-47.
Marine pollution bulletin
Interactive effects of hypoxia and PBDE on larval settlement of a marine benthic polychaete.
Marine pollution bulletin
Treatment of juvenile idiopathic arthritis.
Pediatric annals
Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey.
Clinical immunology (Orlando, Fla.)
Antigen-specific responses and ANA production in B6.Sle1b mice: a role for SAP.
Journal of autoimmunity
The role of SAP and the SLAM family in autoimmunity.
Current opinion in immunology