Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects

Int J Immunogenet. 2007 Aug;34(4):231-3. doi: 10.1111/j.1744-313X.2007.00679.x.

Authors

K Zhang¹, J A Johnson, J Biroschak, J Villanueva, S Molleran Lee, J J Bleesing, K A Risma, R J Wenstrup, A H Filipovich

Affiliation

¹ Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, OH 45255, USA. kejian.zhang@cchmc.org

PMID: 17627755
DOI: 10.1111/j.1744-313X.2007.00679.x

No abstract available

MeSH terms

Alanine / genetics
Amino Acid Substitution / genetics*
Family Health
Genetic Carrier Screening
Genotype
Humans
Lymphohistiocytosis, Hemophagocytic / genetics*
Lymphohistiocytosis, Hemophagocytic / immunology
Membrane Glycoproteins / genetics*
Mutation, Missense*
Perforin
Pore Forming Cytotoxic Proteins / genetics*
Valine / genetics

Substances

Membrane Glycoproteins
Pore Forming Cytotoxic Proteins
Perforin
Valine
Alanine