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)
  1. Lymphocytes (T and B cells) were principally wildtype, but myeloid cells (neutrophils and monocytes) were mutant.
  2. 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.
  3. Mutations were noticeably absent in mature lymphocytes.
  4. Patients reported with decreased peripheral lymphocyte counts.
  5. Mutations were absent in fibroblasts. (4)