TY  - JOUR
AU  - Mancebo, Esther
AU  - Allende-Martinez, Luis M.
AU  - Guzman, Maria
AU  - Paz-Artal, Estela
AU  - Gil, Juana
AU  - Urrea-Moreno, Ramon
AU  - Fernandez-Cruz, Eduardo
AU  - Gayà, Antoni
AU  - Calvo Benito, Javier
AU  - Arbós, Aina
AU  - Duran Pastor, Maria Antonia
AU  - Canet, Ramón
AU  - Balanzat-Muñoz, José
AU  - Udina, María A.
AU  - Vercher, Javier
PY  - 2006
SN  - 0390-6078
UR  - https://hdl.handle.net/20.500.13003/14140
T2  - Haematologica
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...
LA  - eng
M2  - 1257
PB  - Ferrata Storti Foundation
KW  - perforin
KW  - familial hemophagocytic lymphohistiocytosis
KW  - A91V mutation
KW  - tuberculosis
KW  - Homozygote
KW  - Lymphohistiocytosis, Hemophagocytic
KW  - Middle Aged
KW  - Pore Forming Cytotoxic Proteins
KW  - Membrane Glycoproteins
KW  - Perforin
KW  - Tuberculosis
KW  - Humans
KW  - Twins, Monozygotic
KW  - Mutation, Missense
KW  - Male
TI  - Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection
TY  - research article
VL  - 91
ER  -