TY - JOUR
T1 - Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis
AU - Ericson, Kim Göransdotter
AU - Fadeel, Bengt
AU - Andersson, Mats
AU - Gudmundsson, Gudmundur H.
AU - Gürgey, Aytemiz
AU - Yalman, Nevin
AU - Janka, Gritta
AU - Nordenskjöld, Magnus
AU - Henter, Jan Inge
N1 - Funding Information: Acknowledgements We would like to express our gratitude to Drs. R. Maarten Egeler, Kirsi Jahnukainen, Ásgeir Haraldsson, Janet Poole, Ingebjörg Storm-Mathiesen and Tom Révész for providing DNA samples. We also thank Mikael Sundin for technical assistance. This work has been presented in part at the Annual Meeting of the Histiocyte Society, Stresa, Italy, September 2001. The work was supported by the Children’s Cancer Foundation of Sweden, the Swedish Cancer Society, the Histiocytosis Association of America, the Swedish Medical Research Council (JIH-12440; MA-12634), The Märta and Gunnar V Philipson Foundation, the Tobias Foundation, Mary Bevés Foundation for Child Cancer Research and the Foundation Barnavård. B.F. is the recipient of a Swedish Society for Medical Research scholarship.
PY - 2003/1
Y1 - 2003/1
N2 - Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder of immune regulation. Mutations in the gene encoding perform were previously identified in a subset of FHL patients. The present analysis of two novel candidate genes, granzyme B and granulysin, by direct sequencing in a total of 16 FHL families, disclosed several sequence variations. However, none of these sequence variations were associated with the manifestations of FHL. These data do not support the notion that granulysin and granzyme B are candidate genes for FHL.
AB - Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder of immune regulation. Mutations in the gene encoding perform were previously identified in a subset of FHL patients. The present analysis of two novel candidate genes, granzyme B and granulysin, by direct sequencing in a total of 16 FHL families, disclosed several sequence variations. However, none of these sequence variations were associated with the manifestations of FHL. These data do not support the notion that granulysin and granzyme B are candidate genes for FHL.
UR - https://www.scopus.com/pages/publications/0037209152
U2 - 10.1007/s00439-002-0841-0
DO - 10.1007/s00439-002-0841-0
M3 - Article
C2 - 12483306
SN - 0340-6717
VL - 112
SP - 98
EP - 99
JO - Human Genetics
JF - Human Genetics
IS - 1
ER -