An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation

Figure 1

(a) Targeted next generation sequencing analysis in genomic DNA of patient. A nonsense mutation in Exon 1 (c.31C>T) changes an arginine (R) codon (CGA) into a translation termination (X) codon (TGA) at amino acid position 11 (p.Arg11Ter). (b) Sanger sequencing analysis in genomic DNA of patient. (c) The mother was heterozygous carrier and the sister had wild type gene sequences.

(a)

(b)

(c)