A5075148041- Immunodeficiency and Autoimmune Disorders
- Platelet Disorders and Treatments
- Hematopoietic Stem Cell Transplantation
- Chemokine receptors and signaling
- Complement system in diseases
- T-cell and B-cell Immunology
- Cytomegalovirus and herpesvirus research
- Renal Transplantation Outcomes and Treatments
- Single-cell and spatial transcriptomics
- Adenosine and Purinergic Signaling
- Cancer Genomics and Diagnostics
- SARS-CoV-2 and COVID-19 Research
University of California, San Diego
2022-2025
Rady Children's Hospital-San Diego
2022-2024
Abstract Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 ( CXCR4 ) gene. We characterize unique international cohort of 66 patients, including 57 (86%) cases previously unreported, with variable clinical phenotypes. Of 17 distinct genetic variants within our cohort, 11 were novel pathogenic affecting 15 individuals (23%). All affect same region impair...
Abstract Purpose The safety and tolerability of elapegademase (elapegademase-lvlr; Revcovi ® ) a PEGylated recombinant adenosine deaminase (ADA), were demonstrated in two Phase 3 clinical trials the U.S. Japan patients with ADA-deficient severe combined immunodeficiency (ADA-SCID). Elapegademase replaced Adagen (pegademase, bovine ADA) 2018. This registry study (NCT03878069) was conducted as post-marketing requirement to bolster limited effectiveness data on ADA-SCID starting enzyme...
The commitment of hematopoietic stem cells (HSC) to myeloid, erythroid, and lymphoid lineages is influenced by microenvironmental cues, governed cell-intrinsic epigenetic characteristics that are unique the HSC population. To investigate nature lineage bias in human HSC, mitochondrial single cell (sc) ATAC-Sequencing (mt-scATACSeq) was used identify somatic mutations DNA act as natural genetic barcodes for tracking ex vivo differentiation potential mature cells. Clonal CD34+ their progeny...
Complement factor I deficiency (CFID; OMIM #610984) is a rare immunodeficiency caused by deficiencies in the serine protease complement (CFI). CFID characterized predisposition to severe pneumococcal infection, often infancy. We report previously healthy adolescent male who presented with respiratory failure secondary pneumonia and systemic inflammatory response. Rapid genome sequencing (rGS) identified compound heterozygous variants CFI proband, novel maternally inherited likely pathogenic...