RT Journal Article
T1 Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection
A1 Mancebo, Esther
A1 Allende-Martinez, Luis M.
A1 Guzman, Maria
A1 Paz-Artal, Estela
A1 Gil, Juana
A1 Urrea-Moreno, Ramon
A1 Fernandez-Cruz, Eduardo
A1 Gayà, Antoni
A1 Calvo Benito, Javier
A1 Arbós, Aina
A1 Duran Pastor, Maria Antonia
A1 Canet, Ramón
A1 Balanzat-Muñoz, José
A1 Udina, María A.
A1 Vercher, Javier
AB 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. A91V confers genetic susceptibility for the development of FHL, but is not enough to trigger the disease on its own. We discuss the role of the A91V change together with M. tuberculosis infection as synergistic factors in the late onset of FHL.
PB Ferrata Storti Foundation
SN 0390-6078
YR 2006
FD 2006-09-01
LK https://hdl.handle.net/20.500.13003/14140
UL https://hdl.handle.net/20.500.13003/14140
LA eng
NO Mancebo Esther, Allende Luis M., Guzman Maria, Paz-Artal Estela, Gil Juana, Urrea-Moreno Ramon, et al. Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection. Haematologica. 2006 Sep 01;91(9):1257-1260.
DS Docusalut
RD 28 abr. 2026