Table 1

MPO-deficient donors

3Francec.1555-1568del14, p.M519PfsX21/c.1907C>T, p.T636M and c.2031-2A>C27
4Francec.995C>T, p.A332V/c. 2031-2A>C27
5Luxembourgc.752T>C, p.M251T/c.1705C>T, p.R569W
6USAc.929T>C, p.M251T/g.8089C>T, pR569W39
  • Nomenclature for genotypes is according to den Dunnen and Antonarakis.40 The c.2031-2A>C splice mutation in donors 1-3, and the frameshift deletion in donor 3 consistently generate null alleles, whereas the missense mutations in donors 4-6 allow for residual MPO activity.