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Blood, 15 June 2004, Vol. 103, No. 12, pp. 4610-4612. Prepublished online as a Blood First Edition Paper on January 22, 2004; DOI 10.1182/blood-2003-10-3551. This Article Full Text (PDF) All Versions of this Article: 2003-10-3551v1 103/12/4610    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Busiello, R. Articles by Pignata, C. Search for Related Content PubMed PubMed Citation Articles by Busiello, R. Articles by Pignata, C. Related Collections Related Letter in Blood Online Social Bookmarking                   What's this? Submitted October 17, 2003 Accepted January 4, 2004 Atypical features of familial hemophagocytic lymphohistiocytosis Rosanna Busiello, Marsilio Adriani, Franco Locatelli, Mario Galgani, Giorgia Fimiani, Rita Clementi, Matilde V Ursini, Luigi Racioppi, and Claudio Pignata* Department of Pediatrics, "Federico II" University, Naples, Italy Department of Pediatric Hematology/Oncology, IRCCS Policlinico San Matteo, Pavia, Italy Department of Cellular and Molecular Biology and Pathology, "Federico II" University, Naples, Italy International Institute of Genetics and Biophysics, Naples, Italy * Corresponding author; email: pignata{at}unina.it. Familial hemophagocytic lymphohistiocytosis (FHLH) is a rare, rapidly progressive, disorder of early childhood characterized by uncontrolled activation of T cells and macrophages. Although perforin gene mutations have been described in a proportion of FHLH patients, the genotype/phenotype correlation is still limited. Only few patients with late onset clinical manifestations have been reported. The biochemical and immunological alterations in the asymptomatic phase are not well known. We report on a family in which 2 fraternal twins both homozygous for a perforin mutation previously described as causative of the disease, markedly differed in its phenotypic expression. The twins also had a second novel heterozygous mutation. Natural killer (NK) activity was severely impaired in the patient and was normal in the asymptomatic fraternal twin. Our report highlights that FHLH may present after a long disease-free interval during which biochemical or immunological alterations may be not evident, thus implying a role for interfering factors. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Letter in Blood Online: A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype Udo zur Stadt, Karin Beutel, Belinda Weber, Hartmut Kabisch, Reinhard Schneppenheim, Gritta Janka, Rosanna Busiello, Mario Galgani, Carmela De Fusco, Vincenzo Poggi, Marsilio Adriani, Luigi Racioppi, and Claudio Pignata Blood 2004 104: 1909-1910. [Full Text] [PDF] This article has been cited by other articles: J. Chia, K. P. Yeo, J. C. Whisstock, M. A. Dunstone, J. A. Trapani, and I. Voskoboinik Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer PNAS, June 16, 2009; 106(24): 9809 - 9814. [Abstract] [Full Text] [PDF] I. Voskoboinik, V. R. Sutton, A. Ciccone, C. M. House, J. Chia, P. K. Darcy, H. Yagita, and J. A. Trapani Perforin activity and immune homeostasis: the common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function Blood, August 15, 2007; 110(4): 1184 - 1190. [Abstract] [Full Text] [PDF] W. J. Grossman, M. Radhi, D. Schauer, E. Gerday, C. Grose, and F. D. Goldman Development of hemophagocytic lymphohistiocytosis in triplets infected with HHV-8 Blood, August 15, 2005; 106(4): 1203 - 1206. [Abstract] [Full Text] [PDF] C. Trambas, F. Gallo, D. Pende, S. Marcenaro, L. Moretta, C. De Fusco, A. Santoro, L. Notarangelo, M. Arico, and G. M. Griffiths A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin Blood, August 1, 2005; 106(3): 932 - 937. [Abstract] [Full Text] [PDF] I. Voskoboinik, M.-C. Thia, and J. A. Trapani A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis Blood, June 15, 2005; 105(12): 4700 - 4706. [Abstract] [Full Text] [PDF] E. Ishii, I. Ueda, R. Shirakawa, K. Yamamoto, H. Horiuchi, S. Ohga, K. Furuno, A. Morimoto, M. Imayoshi, Y. Ogata, et al. Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions Blood, May 1, 2005; 105(9): 3442 - 3448. [Abstract] [Full Text] [PDF]

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