Home Department: undeclared
Supported by: Bio-X
Mentor: Katja Weinacht, Pediatrics

Reticular Dysgenesis (RD) is one of the most serious forms of severe combined immunodeficiency (SCID) because it affects both innate and adaptive immunity. The disease is characterized by arrested neutrophil maturation, excess lymphocytes in the blood, and hearing loss. It disproportionately affects infants and children unless immune reconstitution is achieved by stem cell transplantation. Ashley will analyze how in vitro derived stem cells can model this disease and contribute toward possible treatment for the disease.

Poster presented at the Stanford Bio-X Interdisciplinary Initiatives Symposium on August 24, 2017:

Tissue-Restricted Redundancy of Adenylate Kinases 1 and 2 Explains SCID-Phenotype in Reticular Dysgenesis (AK2 Deficiency)

Ashley Westerfield¹, Avni Awani¹, Katja Weinacht¹
[Department of Pediatrics¹, Stanford University]