Background: Visceral leishmaniasis (VL) caused by Leishmania infantum is a zoonotic disease endemic throughout the Mediterranean basin. The existence of asymptomatic human infection entails the risk of transmission by blood transfusion.
Study Design And Methods: The prevalence of Leishmania infection was studied in 1437 blood donors from the Balearic Islands (Majorca, Formentera, and Minorca) using immunologic (Western blot [WB] and delayed-type hypersensitivity [DTH]), parasitologic (culture), and molecular (nested polymerase chain reaction [PCR]) methods.
Perforin gene (PRF1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (FHL), an autosomal recessive disorder of infancy and early childhood that impairs or abolishes lymphocyte cytotoxicity. We report the first case of FHL in an adult patient homozygous for A91V in PRF1 with tuberculosis. The monozygotic twin of the patient is healthy.
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