TY - JOUR
T1 - Atypical features of familial hemophagocytic lymphohistiocytosis
AU - Busiello, Rosanna
AU - Adriani, Marsilio
AU - Locatelli, Franco
AU - Galgani, Mario
AU - Fimiani, Giorgia
AU - Clementi, Rita
AU - Ursini, Matilde Valeria
AU - Racioppi, Luigi
AU - Pignata, Claudio
PY - 2004/6/15
Y1 - 2004/6/15
N2 - 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 patients with FHLH, the genotype/phenotype correlation is still limited. Only a few patients with late onset clinical manifestations have been reported. The biochemical and immunologic 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 phenotypic expression of FHLH. 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 immunologic alterations may be not evident, thus implying a role for interfering factors.
AB - 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 patients with FHLH, the genotype/phenotype correlation is still limited. Only a few patients with late onset clinical manifestations have been reported. The biochemical and immunologic 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 phenotypic expression of FHLH. 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 immunologic alterations may be not evident, thus implying a role for interfering factors.
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U2 - 10.1182/blood-2003-10-3551
DO - 10.1182/blood-2003-10-3551
M3 - Article
C2 - 14739222
AN - SCOPUS:2942627114
VL - 103
SP - 4610
EP - 4612
JO - Blood
JF - Blood
SN - 0006-4971
IS - 12
ER -