Transcript counts of GATA2, IKBKG, FERMT3, and RUNX1 from patients segregated by mutation class. i5C>T (n = 5, patients 4.II.1, 4.II.5, 6.II.1, 11.I.1, 25.I.1); Haplo, identified mutations resulting in loss of expression of 1 allele (n = 2, patients 13.I.2, 41.I.1); Unk, patients without identified pathogenic mutations (n = 4, patients 7.I.1, 23.I.3, 29.I.1, 33.II.2); Mis, identified GATA2 mutations predicted to result in a single amino acid change or a late frameshift with demonstrated mRNA stability (n = 8, patients 1.II.5, 5.I.1, 9.II.1, 15.I.1, 30.II.1, 33.III.3, 37.I.1, 40.I.1); compared with healthy controls (HC) (n = 9) or patients with pNTM (n = 5) with wild-type GATA2. *P < .05; **P < .01; ***P < .001.