Patient phenotypes: brother (left panels); sister (right panels). (A) Neutropenia. All available absolute neutrophil counts (ANC) values were plotted by date (nonlinear time scale). Neither patient received G-CSF or other hematopoietic growth factors during the period of observation plotted. Green bars represent clinically uninfected; red bars, active clinical infection; and black bars, unknown infection status. (B) Ectatic superficial veins on chest, abdomen, and extremities. (C) Cardiac defects. Echocardiography revealed a thickened and stenotic mitral valve (arrow) with reduced excursion in the brother and a catheter-implanted atrial septal defect occlusion device (arrow) in the sister. (D) Pulmonary infiltrates and bronchiectasis on chest computed tomography.