Mutant Blood Cell Populations
Patients with the UBA 1 mutations as discussed previously presented with
an array of diversities within the blood cell populations. David D. Beck
et al, who conducted the preliminary study, report the following
observations in The New England Journal of Medicine, which have
been summarized here. (1)
- Lymphocytes (T and B cells) were principally wildtype, but myeloid
cells (neutrophils and monocytes) were mutant.
- Mutant cells were obtained in early bone marrow progenitor cell
populations, predominantly in MEPs (megakaryocytic erythroid
progenitors), GMPs (granulocyte-monocyte progenitors), HPCs
(hematopoietic progenitor cells) and multipotent progenitors.
- Mutations were noticeably absent in mature lymphocytes.
- Patients reported with decreased peripheral lymphocyte counts.
- Mutations were absent in fibroblasts. (4)