Mutations of perforin and Munc13-4 do not mark HLH by NK defects.
Schneider
E Marion
EM
Sektion Experimentelle Anaesthesiologie, Universitätsklinikum Ulm, Steinhoevelstrasse 9, 89075 Ulm, Germany. marion.schneider@medizin.uni-ulm.de
D017668:Age of Onset; D018389:Codon, Nonsense; D005089:Exocytosis / Q000235:genetics; D006801:Humans; D007694:Killer Cells, Natural / Q000276:immunology / Q000378:metabolism* / Q000473:pathology; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics* / Q000276:immunology; D008562:Membrane Glycoproteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins
D018389:Codon, Nonsense; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D052899:Pore Forming Cytotoxic Proteins; C507969:UNC13D protein, human; D054353:Perforin