Journal ArticleDOI
Acquired and germline predisposition to bone marrow failure: Diagnostic features and clinical implications.
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TLDR
Several overlapping acquired marrow failure entities including aplastic anemia, hypoplastic myelodysplasia, and large granular lymphocyte disorders are reviewed; and several bone marrow disorders with germline predisposition are reviewed with a focus on advances related to pathophysiology, diagnosis, and management.About:
This article is published in Seminars in Hematology.The article was published on 2019-01-01. It has received 46 citations till now. The article focuses on the topics: Congenital amegakaryocytic thrombocytopenia & Bone marrow failure.read more
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Dyskeratosis congenita
TL;DR: 先天性角化不良是一种少见的光天遗传性皮肤病,其临床三联征包括:甲板营养不 良,
Journal ArticleDOI
Transcriptional control of blood cell emergence.
TL;DR: Insight into the transcriptional control of blood cell emergence has been used for devising protocols to generate blood cells de novo, either through reprogramming of somatic cells or through forward programming of pluripotent stem cells.
Journal Article
Mutations in lrba are associated with a syndrome of immune deficiency and autoimmunity
G Lopez-Herrera,Giacomo Tampella,Manuela Baronio,Massimiliano Vitali,Vassilios Lougaris,Alessandro Plebani,Q Pan-Hammarstroem,L Hammarstroem,Likun Du,Kjell Hultenby,Claudia M. Trujillo-Vargas,Kanchan Phadwal,Anna Katharina Simon,Michel Moutschen,Amos Etzioni,Srugo Ami.,Doron Melamed,Chonghai Liu,P Philippet,Vinciane Dideberg,Asghar Aghamohammadi,N Rezai,V Enright,Hans J. Stauss,P Herholz,Ulrich Salzer,Hermann Eibel,Dietmar Pfeifer,H Velkeen,EM Gertz,AA Schaeffer,Bodo Grimbacher +31 more
TL;DR: In this paper, the authors performed genetic linkage analysis in consanguineous families affected by hypogammaglobulinemia and concluded that mutations in LRBA cause an immune deficiency characterized by defects in B cell activation and autophagy and susceptibility to apoptosis.
Journal ArticleDOI
Genetic Predisposition to Myelodysplastic Syndrome in Clinical Practice.
Kristen E. Schratz,Amy E. DeZern +1 more
TL;DR: Germline genetic causes of MDS are delineated and a scaffold for the diagnosis and management of patients in this context is provided.
References
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Lymphoproliferative Disorders with Early Lethality in Mice Deficient in Ctla-4
Paul Waterhouse,Josef M. Penninger,Emma Timms,Andrew Wakeham,Arda Shahinian,Kelvin P. Lee,Craig B. Thompson,Henrik Griesser,Tak W. Mak +8 more
TL;DR: Although CTLA-4-deficient T cells proliferated spontaneously and strongly when stimulated through the T cell receptor, they were sensitive to cell death induced by cross-linking of the Fas receptor and by gamma irradiation, and is vital for the control of lymphocyte homeostasis.
Journal ArticleDOI
Revised International Prognostic Scoring System for Myelodysplastic Syndromes
Peter L. Greenberg,Heinz Tuechler,Julie Schanz,Guillermo Sanz,Guillermo Garcia-Manero,Francesc Solé,John M. Bennett,David T. Bowen,Pierre Fenaux,François Dreyfus,Hagop M. Kantarjian,Andrea Kuendgen,Alessandro Levis,Luca Malcovati,Mario Cazzola,Jaroslav Cermak,Christa Fonatsch,Michelle M. Le Beau,Marilyn L. Slovak,Otto Krieger,Michael Luebbert,Jaroslaw P. Maciejewski,Silvia Maria Meira Magalhães,Yasushi Miyazaki,Michael Pfeilstöcker,Mikkael A. Sekeres,Wolfgang R. Sperr,Reinhard Stauder,Sudhir Tauro,Peter Valent,Teresa Vallespi,Arjan A. van de Loosdrecht,Ulrich Germing,Detlef Haase +33 more
TL;DR: This revised IPSS-R comprehensively integrated the numerous known clinical features into a method analyzing MDS patient prognosis more precisely than the initial IPSS and should prove beneficial for predicting the clinical outcomes of untreated MDS patients and aiding design and analysis of clinical trials in this disease.
Journal ArticleDOI
Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes
David P. Steensma,Rafael Bejar,Siddhartha Jaiswal,R. Coleman Lindsley,Mikkael A. Sekeres,Robert P. Hasserjian,Benjamin L. Ebert +6 more
TL;DR: The nature and prevalence of CHIP, distinction of this state from MDS, and current areas of uncertainty regarding diagnostic criteria for myeloid malignancies are discussed.
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The telomere syndromes
TL;DR: The manifestations and unique genetics of telomere syndromes are reviewed and their underlying molecular mechanisms and significance for understanding common age-related disease processes are discussed.
Journal ArticleDOI
Current concepts in the pathophysiology and treatment of aplastic anemia
TL;DR: The molecular basis of the aberrant immune response and deficiencies in hematopoietic cells is now being defined genetically; examples are telomere repair gene mutations in the target cells and dysregulated T-cell activation pathways.
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