Pedigree for the family with MonoMAC syndrome. Family pedigree with the generation indicated on the left. Bone marrow failure cases are shown with full shading, confirmed carriers of the GATA2 enhancer mutant are shown with left half shading, and other obligate carriers are shown with a shaded inner circle. The patients who underwent transplantation in this study are indicated with red arrows, and patient 1 is the female on the left, and patient 2 is the male on right. Patients 3 and 4 are shown with blue arrows. Suspected MonoMAC syndrome cases are shown with upper left quarter shading. Deceased individuals are indicated with a diagonal line with the age of death in years indicated when known (d). A diamond indicates individuals of unspecified sex with the number given or “n” for an undetermined number of individuals. An asterisk (∗) indicates genotyped individuals for the GATA2 enhancer mutation (red, RefSeq allele; blue, novel variant; and black, RefSeq in individuals not in line for inheritance of the novel variant). Clinical data for other family members are indicated when known. AA, aplastic anemia; ca, cancer; TB, tuberculosis.