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

被引：141

作者：

Clementi, R ^{[1
]}

Emmi, L ^{[1
]}

Maccario, R ^{[1
]}

Liotta, F ^{[1
]}

Moretta, L ^{[1
]}

Danesino, C ^{[1
]}

Aricò, M ^{[1
]}

机构：

[1] Osped Bambini G Di Cristina, Palermo, Italy

来源：

BLOOD | 2002年 / 100卷 / 06期

关键词：

D O I：

10.1182/blood-2002-04-1030

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：2266 / 2267

页数：2

共 11 条

[1]

Allen M, 2001, HAEMATOLOGICA, V86, P499

[2]

Arico M, 1996, LEUKEMIA, V10, P197

[3] Pathogenesis of haemophagocytic lymphohistiocytosis [J].

Aricò, M ;

Danesino, C ;

Pende, D ;

Moretta, L .

BRITISH JOURNAL OF HAEMATOLOGY, 2001, 114 (04) :761-769

[4]

ARICO M, IN PRESS BR J HAEMAT

[5] Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis [J].

Clementi, R ;

zur Stadt, U ;

Savoldi, G ;

Varotto, S ;

Conter, V ;

De Fusco, C ;

Notarangelo, LD ;

Schneider, M ;

Klersy, C ;

Janka, G ;

Danesino, C ;

Aricò, M .

JOURNAL OF MEDICAL GENETICS, 2001, 38 (09) :643-646

[6] Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis [J].

Ericson, KG ;

Fadeel, B ;

Nilsson-Ardnor, S ;

Söderhäll, C ;

Samuelsson, A ;

Janka, G ;

Schneider, M ;

Gürgey, A ;

Yalman, N ;

Révész, T ;

Egeler, RM ;

Jahnukainen, K ;

Storm-Mathiesen, I ;

Haraldsson, A ;

Poole, J ;

de Saint Basile, G ;

Nordenskjöld, M ;

Henter, JI .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (03) :590-597

[7] CEREBROMENINGEAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS [J].

HENTER, JI ;

ELINDER, G .

LANCET, 1992, 339 (8785) :104-107

[8]

HENTER JI, 1991, SEMIN ONCOL, V18, P29

[9]

MOZZICONACCI P, 1965, ARCH FR PEDIATR, V22, P385

[10]

Stepp SE, 1999, SCIENCE, V286, P1957, DOI 10.1126/science.286.5446.1957

← 1 2 →