“Atypical features of familial hemophagocytic lymphohistiocytosis” (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• “Atypical features of familial hemophagocytic lymphohistiocytosis” (Articolo in rivista) (literal)

Anno

• 2004-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1182/blood-2003-10-3551 (literal)

Alternative label

• Busiello R.; Adriani M.; Locatelli F.; Galgani M.; Fimiani G.; Clementi R.; Ursini M.V.; Racioppi L. and Pignata C. (2004)
  “Atypical features of familial hemophagocytic lymphohistiocytosis”
  in Blood
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Busiello R.; Adriani M.; Locatelli F.; Galgani M.; Fimiani G.; Clementi R.; Ursini M.V.; Racioppi L. and Pignata C. (literal)

Pagina inizio

• 4610 (literal)

Pagina fine

• 4612 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 103 (literal)

Rivista

• Blood (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 12 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto

• PUBBLICAZIONE (literal)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• IGB, ABT, CNR, Napoli Dipartimento di Pediatria, Università Federico II, Napoli (literal)

Titolo

• “Atypical features of familial hemophagocytic lymphohistiocytosis” (literal)

Abstract

• 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 diseasefree interval during which biochemical or immunologic alterations may be not evident, thus implying a role for interfering factors. (literal)

Prodotto di

• Institute of genetics and biophysics \"Adriano Buzzati Traverso\" (IGB) (Istituto)
• Variabilità del genoma ed alterazioni genetiche nell'uomo e loro impatto biologico - (SV.P13.004.001) (Modulo)

Autore CNR

• MATILDE URSINI (Unità di personale interno)

Incoming links:

Prodotto

• Institute of genetics and biophysics \"Adriano Buzzati Traverso\" (IGB) (Istituto)
• Variabilità del genoma ed alterazioni genetiche nell'uomo e loro impatto biologico - (SV.P13.004.001) (Modulo)

Autore CNR di

• MATILDE URSINI (Unità di personale interno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Blood (Rivista)