Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations [1]

Blood

Volumn 100, Issue 6, 2002, Pages 2266-2267

  Clementi, Rita ^a   Emmi, Lorenzo ^a   Maccario, Rita ^a   Liotta, Francesco ^a   Moretta, Lorenzo ^a   Danesino, Cesare ^a   Aricò, Maurizio ^a  

^a Ospedale dei Bambini G Di Cristina   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HEMOPHAGOCYTIC SYNDROME; HUMAN; LETTER; MALE; PRF1 GENE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIBLING;

EID: 0037105371     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-04-1030     Document Type: Letter

References (11)

1. Hemophagocytic lymphohistiocytosis: Report of 122 children from the International Registry
2. Diagnostic guidelines for hemophagocytic lymphohistiocytosis
3. Perforin gene defects in familial hemophagocytic lymphohistiocytosis
4. Six novel mutations of the perforin gene in children with hemophagocytic lymphohistiocytosis
5. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis
6. Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan
7. La lymphohistiocytose familiare
8. Familial hemophagocytic lymphohistiocytosis: How late can the onset be?
9. Cerebromeningeal haemophagocytic lymphohistiocytosis
10. Pathogenesis of haemophagocytic lymphohistiocytosis
11. Hemophagocytic lymphohistiocytosis: Proposal of a diagnostic algorithm based on perfodn expression