Figure 1.

Patients examination results. (A) Bone marrow biopsy found histiocytes phagocytosing blood cells. (i) Histiocytes phagocytosed blood cells (arrow); (ii) Hemophagocytic cells underwent phagocytosis (arrow). (B) Results of whole-exome sequencing: the genetic analysis identified that the patient and her father had heterozygous mutations in UNC13D. (i) patient; (ii) father; (iii) mother. (C) The results of imaging examinations were as follows, (i) CT scan showed exudative lesions in both lungs; (ii) brain magnetic resonance imaging (MRI): a T2−weighted sequence showing abnormal white matter signal (arrow).