Pedigree description. P1 to P7 describes the pedigrees. Circles represent females and squares males. Parents are connected by a single horizontal line, and vertical lines indicate their offspring. Offspring are connected by a horizontal line. Siblings are placed from left to right according to birth order and are labeled with Arabic numerals. Each generation is indicated by a Roman numeral. Circles and squares are black when neutropenias have been formally identified. If a patient is dead, a diagonal line is placed over the circle or square. Smaller circles with a diagonal line indicate miscarriage (P1, III, 4; P1, III, 6) or termination because of AML induction treatment (P1, III, 7). Patients tested are indicated by the result of the GATA2 screening and a number (patient number 7107 was not analyzed). The absence (wild-type, WT) or presence of a GATA2 mutation (protein variation or complete deletion indicated by Δ) is indicated below the symbol of the patient tested.