Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis

被引：66
|
作者：
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
机构：
[1] Univ Pavia, I-27100 Pavia, Italy
[2] Univ Hamburg, Childrens Hosp, Dept Paediat Haematol & Oncol, Hamburg, Germany
[3] Univ Brescia, Pediat Clin, Ist Med Mol Angelo Nocivelli, I-25121 Brescia, Italy
[4] Univ Padua, Pediat Clin, I-35100 Padua, Italy
[5] Univ Milano Bicocca, Osped San Gerardo, Pediat Clin, Monza, Italy
[6] Osped Pausilipon, Naples, Italy
[7] Univ Ulm, Sect Expt Anaesthesiol, D-89069 Ulm, Germany
[8] IRCCS Policlin San Matteo, Biometry & Clin Epidemiol Serv, Pavia, Italy
[9] IRCCS Policlin San Matteo, Pediat Clin, Pavia, Italy
来源：
JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 09期
关键词：
D O I：
10.1136/jmg.38.9.643
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：643 / 646
页数：4
相关论文
共 50 条
  • [1] PRF1 gene mutation in a Saudi patient with haemophagocytic lymphohistiocytosis
    Al Balwi, M. A.
    Al Harbi, T.
    Al Abdulkareem, I.
    Hajeer, A. H.
    BRITISH JOURNAL OF BIOMEDICAL SCIENCE, 2010, 67 (02) : 88 - 89
  • [2] MUTATIONS OF PRF1 GENE IN CHINESE PATIENTS WITH HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS AND MALIGNANT LYMPHOMAS
    Tang, Y.
    Chen, Y.
    Wang, Z.
    Feng, J.
    PEDIATRIC BLOOD & CANCER, 2013, 60 : 152 - 153
  • [3] Haemophagocytic Lymphohistiocytosis (HLH) Associated With a Heterozygous PRF1 Mutation Not Previously Described As Pathogenic
    Arbelaez, Alejandro
    Catley, Laurence
    BLOOD, 2013, 122 (21)
  • [4] Isolated central nervous system haemophagocytic lymphohistiocytosis with PRF1 gene mutation presenting as fever of unknown origin
    Ganesh, Vijay
    Mohimen, Aneesh
    Singh, Puneet
    Khera, Sanjeev
    BMJ CASE REPORTS, 2025, 18 (02)
  • [5] A Novel Pathogenic Variant in PRF1 Associated with Hemophagocytic Lymphohistiocytosis
    Camilo Andrés Pérez Romero
    Isaura Pilar Sánchez
    Sebastian Gutierrez-Hincapié
    Jesús A. Álvarez-Álvarez
    Jaime Andres Pereañez
    Rodrigo Ochoa
    Carlos Enrique Muskus-López
    Ruth G. Eraso
    Carolina Echeverry
    Catalina Arango
    José Luis Franco Restrepo
    Claudia Milena Trujillo-Vargas
    Journal of Clinical Immunology, 2015, 35 : 501 - 511
  • [6] Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis
    Lee, SM
    Villanueva, J
    Sumegi, J
    Zhang, K
    Kogawa, K
    Davis, J
    Filipovich, AH
    JOURNAL OF MEDICAL GENETICS, 2004, 41 (02) : 137 - 144
  • [7] Two siblings with familial hemophagocytic lymphohistiocytosis: Compound heterozygosity with two novel PRF1 mutations
    Metin, A.
    Akan, A.
    de Saint Basile, G.
    Naci, Can K.
    ALLERGY, 2011, 66 : 546 - 547
  • [8] A Novel Pathogenic Variant in PRF1 Associated with Hemophagocytic Lymphohistiocytosis
    Perez Romero, Camilo Andres
    Pilar Sanchez, Isaura
    Gutierrez-Hincapie, Sebastian
    Alvarez-Alvarez, Jesus A.
    Andres Pereanez, Jaime
    Ochoa, Rodrigo
    Enrique Muskus-Lopez, Carlos
    Eraso, Ruth G.
    Echeverry, Carolina
    Arango, Catalina
    Franco Restrepo, Jose Luis
    Milena Trujillo-Vargas, Claudia
    JOURNAL OF CLINICAL IMMUNOLOGY, 2015, 35 (05) : 501 - 511
  • [9] Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations
    Clementi, R
    Emmi, L
    Maccario, R
    Liotta, F
    Moretta, L
    Danesino, C
    Aricò, M
    BLOOD, 2002, 100 (06) : 2266 - 2267
  • [10] Familial Hemophagocytic Lymphohistiocytosis Secondary to PRF1 Mutation
    Alfaraidi, Albaraa T.
    Alqarni, Abdulaziz A.
    Aqeel, Mohammed T.
    Albalawi, Turki A.
    Hejazi, Ahmed S.
    CASE REPORTS IN HEMATOLOGY, 2021, 2021
12345