Premium
Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects
Author(s) -
Zhang K.,
Johnson J. A.,
Biroschak J.,
Villanueva J.,
Lee S. Molleran,
Bleesing J. J.,
Risma K. A.,
Wenstrup R. J.,
Filipovich A. H.
Publication year - 2007
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.2007.00679.x
Subject(s) - perforin , mutation , hemophagocytic lymphohistiocytosis , compound heterozygosity , heterozygote advantage , immunology , medicine , disease , genetics , biology , gene , allele , immune system , cd8
Summary The heterozygous A91V mutation in PRF1 is identified more frequently in patients with familial haemophagocytic lymphohistiocytosis (FHLH) than in healthy individuals in North America. Additional mutation(s) in either Munc13‐4 or PRF1 were found in 10 of 24 patients with FHLH who are heterozygous for A91V. A91V‐ PRF1 by itself is not disease causing.