Adult onset and atypical presentation of  hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations.
Clementi
Rita
R
Emmi
Lorenzo
L
Maccario
Rita
R
Liotta
Francesco
F
Moretta
Lorenzo
L
Danesino
Cesare
C
Aricó
Maurizio
M
D000328:Adult; D017668:Age of Onset; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D015616:Histiocytosis, Non-Langerhans-Cell / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009679:Nuclear Family; D054353:Perforin; D017354:Point Mutation; D052899:Pore Forming Cytotoxic Proteins
D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin