Fig 1.

Clinical and laboratory findings. A, Family pedigrees and RAB27A genotype. B, Brain axial magnetic resonance imaging FLAIR images of P1 at diagnosis of HLH showed nonspecific multifocal hyperintense white matter lesions (arrows). C, H&E stain of a skin biopsy from P3 reveals granulomatous infiltrates in the dermis. A nonnecrotizing granuloma (boxed area, left) is presented at a higher magnification (right).D, NK-cell cytotoxic activity of P3 was defective compared with relatives and controls. NK-cell exocytosis (E) and T-cell exocytosis (F) were reduced in P3. NK-cell cytotoxicity (G) and NK (H) and T-cell exocytosis (I) were defective in P4. dup-inv, Duplication/inversion; H&E, hematoxylin and eosin; n.a., not applicable/available; wt, wild type.