The Inherited Bone Marrow Failure Syndromes

被引：37

作者：

Chirnomas, S. Deborah ^{[1
]}

Kupfer, Gary M. ^{[1
]}

机构：

[1] Yale Univ, Sch Med, Sect Pediat Hematol Oncol, New Haven, CT 06520 USA

来源：

PEDIATRIC CLINICS OF NORTH AMERICA | 2013年 / 60卷 / 06期

关键词：

Ribosomopathies; Fanconi anemia; Diamond-Blackfan anemia; Dyseratosis congenita; Shwachman-Diamond; Bone marrow failure; DNA repair; Cancer susceptibility; DIAMOND-BLACKFAN ANEMIA; CONGENITAL DYSERYTHROPOIETIC ANEMIA; CARTILAGE-HAIR HYPOPLASIA; COLONY-STIMULATING FACTOR; STEM-CELL TRANSPLANTATION; ACUTE MYELOID-LEUKEMIA; RIBOSOMAL-PROTEIN S19; HEMATOPOIETIC GROWTH-FACTORS; ABSENT RADII SYNDROME; FANCONI-ANEMIA;

D O I：

10.1016/j.pcl.2013.09.007

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Molecular pathogenesis may be elucidated for inherited bone marrow failure syndromes (IBMFS). The study and presentation of the details of their molecular biology and biochemistry is warranted for appropriate diagnosis and management of afflicted patients and to identify the physiology of the normal hematopoiesis and mechanisms of carcinogenesis. Several themes have emerged within each subsection of IBMFS, including the ribosomopathies, which include ribosome assembly and ribosomal RNA processing. The Fanconi anemia pathway has become interdigitated with the familial breast cancer syndromes. In this article, the diseases that account for most IBMFS diagnoses are analyzed.

引用

页码：1291 / +

页数：21

共 156 条

[81] Diamond-Blackfan anemia [J].

Krijanovski, OI ;

Sieff, CA .

HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA, 1997, 11 (06) :1061-+

[82]

KRISHNAN EU, 1978, PEDIATRICS, V61, P898

[83]

Landowski M., 2013, Hum Genet

[84] Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice [J].

Langevin, Frederic ;

Crossan, Gerry P. ;

Rosado, Ivan V. ;

Arends, Mark J. ;

Patel, Ketan J. .

NATURE, 2011, 475 (7354) :53-U67

[85]

LEMERRER M, 1991, ANN PEDIATR-PARIS, V38, P27

[86]

LEVINSKY RJ, 1983, LANCET, V1, P671

[87] TNF-α induces leukemic clonal evolution ex vivo in Fanconi anemia group C murine stem cells [J].

Li, June ;

Sejas, Daniel P. ;

Zhang, Xiaoling ;

Qiu, Yuhui ;

Nattamai, Kalpana J. ;

Rani, Reena ;

Rathbun, Keaney R. ;

Geiger, Hartmut ;

Williams, David A. ;

Bagby, Grover C. ;

Pang, Qishen .

JOURNAL OF CLINICAL INVESTIGATION, 2007, 117 (11) :3283-3295

[88] Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23 [J].

Liljeholm, Maria ;

Irvine, Andrew F. ;

Vikberg, Ann-Louise ;

Norberg, Anna ;

Month, Stacy ;

Sandstrom, Herbert ;

Wahlin, Anders ;

Mishima, Masanori ;

Golovleva, Irina .

BLOOD, 2013, 121 (23) :4791-4799

[89]

LIPTON JM, 1986, BLOOD, V67, P962

[90] Ribosomes and marrow failure: coincidental association or molecular paradigm? [J].

Liu, Johnson M. ;

Ellis, Steven R. .

BLOOD, 2006, 107 (12) :4583-4588

← 4 5 6 7 8 9 10 11 12 13 →