Pedigree and tissue-specific sequencing showing GATA2 mutations and disease phenotypes. (A) The heterozygous germline GATA2 p.Y72* mutation in affected brothers II-1 and II-2 segregated with GATA2 deficiency; the father (I-1) did not harbor this mutation in the blood by Sanger sequencing and was asymptomatic. (B) Sequencing chromatograms demonstrate that I-1 carried the GATA2 c.216 C>A p.Y72* mutation (as did II-1 and II-2) in sperm and fibroblasts, but not in blood subpopulations. Sorted T, B, and NK cells and monocytes from I-1 carried the silent somatic mutation in GATA2 c.216 C>T p.Y72Y, indicating somatic genetic rescue at the hematopoietic stem cell level. Het, heterozygous.