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Atypical features of familial hemophagocytic lymphohistiocytosis.

Publication ,  Journal Article
Busiello, R; Adriani, M; Locatelli, F; Galgani, M; Fimiani, G; Clementi, R; Ursini, MV; Racioppi, L; Pignata, C
Published in: Blood
June 15, 2004

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.

Duke Scholars

Published In

Blood

DOI

ISSN

0006-4971

Publication Date

June 15, 2004

Volume

103

Issue

12

Start / End Page

4610 / 4612

Location

United States

Related Subject Headings

  • Polymerase Chain Reaction
  • Pedigree
  • Mutation, Missense
  • Male
  • K562 Cells
  • Immunology
  • Humans
  • Histiocytosis, Non-Langerhans-Cell
  • Gene Amplification
  • Female
 

Citation

APA
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MLA
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Busiello, R., Adriani, M., Locatelli, F., Galgani, M., Fimiani, G., Clementi, R., … Pignata, C. (2004). Atypical features of familial hemophagocytic lymphohistiocytosis. Blood, 103(12), 4610–4612. https://doi.org/10.1182/blood-2003-10-3551
Busiello, Rosanna, Marsilio Adriani, Franco Locatelli, Mario Galgani, Giorgia Fimiani, Rita Clementi, Matilde Valeria Ursini, Luigi Racioppi, and Claudio Pignata. “Atypical features of familial hemophagocytic lymphohistiocytosis.Blood 103, no. 12 (June 15, 2004): 4610–12. https://doi.org/10.1182/blood-2003-10-3551.
Busiello R, Adriani M, Locatelli F, Galgani M, Fimiani G, Clementi R, et al. Atypical features of familial hemophagocytic lymphohistiocytosis. Blood. 2004 Jun 15;103(12):4610–2.
Busiello, Rosanna, et al. “Atypical features of familial hemophagocytic lymphohistiocytosis.Blood, vol. 103, no. 12, June 2004, pp. 4610–12. Pubmed, doi:10.1182/blood-2003-10-3551.
Busiello R, Adriani M, Locatelli F, Galgani M, Fimiani G, Clementi R, Ursini MV, Racioppi L, Pignata C. Atypical features of familial hemophagocytic lymphohistiocytosis. Blood. 2004 Jun 15;103(12):4610–4612.

Published In

Blood

DOI

ISSN

0006-4971

Publication Date

June 15, 2004

Volume

103

Issue

12

Start / End Page

4610 / 4612

Location

United States

Related Subject Headings

  • Polymerase Chain Reaction
  • Pedigree
  • Mutation, Missense
  • Male
  • K562 Cells
  • Immunology
  • Humans
  • Histiocytosis, Non-Langerhans-Cell
  • Gene Amplification
  • Female