Clinical, immunological, histopathological, and characterization of patient. (A) Pedigree of patient. Parents do not have any known consanguinity. All 3 unaffected children and both parents are heterozygous for the same point mutation in PRKCD, whereas the patient represents the only affected offspring who is homozygous for this change. (B) Coronal computed tomography scan images illustrate massive hepatosplenomegaly and mediastinal, axillary, inguinal lymphadenopathy before treatment (left) and after treatment (right).