Newborn twins with thrombocytopenia, coagulation defects, and hepatosplenomegaly - Familial hemophagocytic lymphohistiocytosis, caused by a mutation in the perforin gene

被引：27
作者：
Lipton, JM [1 ]
Westra, S
Haverty, CE
Roberts, D
Harris, NL
Insoft, RM
Friedmann, A
Billett, A
Lehmann, L
机构：
[1] Montefiore Med Ctr, Albert Einstein Coll Med, Dept Pediat, Bronx, NY 10467 USA
[2] Schneider Childrens Hosp, Div Pediat Hematol Oncol & Stem Cell Transplantat, New Hyde Pk, NY USA
[3] Massachusetts Gen Hosp, Serv Gynecol Obstet, Boston, MA 02114 USA
[4] Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA
[5] Harvard Univ, Sch Med, Dept Radiol, Cambridge, MA 02138 USA
[6] Harvard Univ, Sch Med, Dept Pathol, Cambridge, MA 02138 USA
来源：
NEW ENGLAND JOURNAL OF MEDICINE | 2004年 / 351卷 / 11期
关键词：
D O I：
10.1056/NEJMcpc049019
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：1120 / 1130
页数：11
相关论文
共 29 条
[1]   Haemophagocytic lymphohistiocytosis:: proposal of a diagnostic algorithm based on perforin expression [J].
Aricò, M ;
Allen, M ;
Brusa, S ;
Clementi, R ;
Pende, D ;
Maccario, R ;
Moretta, L ;
Danesino, C .
BRITISH JOURNAL OF HAEMATOLOGY, 2002, 119 (01) :180-188
[2]   Pathogenesis of haemophagocytic lymphohistiocytosis [J].
Aricò, M ;
Danesino, C ;
Pende, D ;
Moretta, L .
BRITISH JOURNAL OF HAEMATOLOGY, 2001, 114 (04) :761-769
[3]   Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene [J].
Arico, M ;
Imashuku, S ;
Clementi, R ;
Hibi, S ;
Teramura, T ;
Danesino, C ;
Haber, DA ;
Nichols, KE .
BLOOD, 2001, 97 (04) :1131-1133
[4]  
Certain S, 2000, BLOOD, V95, P979
[5]   Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations [J].
Clementi, R ;
Emmi, L ;
Maccario, R ;
Liotta, F ;
Moretta, L ;
Danesino, C ;
Aricò, M .
BLOOD, 2002, 100 (06) :2266-2267
[6]   Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity [J].
Dufourcq-Lagelouse, R ;
Jabado, N ;
Le Deist, F ;
Stéphan, JL ;
Souillet, G ;
Bruin, M ;
Vilmer, E ;
Schneider, M ;
Janka, G ;
Fischer, A ;
Basile, GD .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (01) :172-179
[7]   Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance [J].
Duval, M ;
Fenneteau, O ;
Doireau, V ;
Faye, A ;
Emilie, D ;
Yolnda, P ;
Drapier, JC ;
Schlegel, N ;
Sterkers, G ;
de Baulny, HO ;
Vilmer, E .
JOURNAL OF PEDIATRICS, 1999, 134 (02) :236-239
[8]   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
[9]   Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis [J].
Feldmann, J ;
Le Deist, F ;
Ouachée-Chardin, M ;
Certain, S ;
Alexander, S ;
Quartier, P ;
Haddad, E ;
Wulffraat, N ;
Casanova, JL ;
Blanche, S ;
Fischer, A ;
de Saint Basile, G .
BRITISH JOURNAL OF HAEMATOLOGY, 2002, 117 (04) :965-972
[10]   Hemophagocytic lymphohistiocytosis [J].
Filipovich, AH .
IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA, 2002, 22 (02) :281-+
123