Lessons from congenital neutropenia: 50 years of progress in understanding myelopoiesis

被引：27

作者：

Berliner, Nancy ^{[1
]}

机构：

[1] Brigham & Womens Hosp, Div Hematol, Boston, MA 02115 USA

来源：

BLOOD | 2008年 / 111卷 / 12期

关键词：

D O I：

10.1182/blood-2007-10-077396

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Severe congenital neutropenia (SCN) was first described just over 50 years ago. The progress in elucidating the clinical features and molecular pathophysiology of SCN closely parallels the progressive growth in our understanding of myelopoiesis. In this historical review, I have delineated this parallel progression in our understanding of the processes of granulocyte differentiation and the pathogenesis of congenital neutropenia. SCN is a heterogeneous disease that can serve as a model for the failure of myelopoiesis, and dissection of its pathogenesis has yielded important insights into the normal process of myeloid development.

引用

页码：5427 / 5432

页数：6

共 60 条

[1] Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia [J].

Ancliff, Phil J. ;

Blundell, Michael P. ;

Cory, Giles O. ;

Calle, Yolanda ;

Worth, Austen ;

Kempski, Helena ;

Burns, Siobhan ;

Jones, Gareth E. ;

Sinclair, Jo ;

Kinnon, Christine ;

Hann, Ian M. ;

Gale, Rosemary E. ;

Linch, David C. ;

Thrasher, Adrian J. .

BLOOD, 2006, 108 (07) :2182-2189

[2] Long-term follow-up of granulocyte colony-stimulating factor receptor mutations in patients with severe congenital neutropenia: implications for leukaemogenesis and therapy [J].

Ancliff, PJ ;

Gale, RE ;

Liesner, R ;

Hann, I ;

Linch, DC .

BRITISH JOURNAL OF HAEMATOLOGY, 2003, 120 (04) :685-690

[3] Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease [J].

Ancliff, PJ ;

Gale, RE ;

Liesner, R ;

Hann, IM ;

Linch, DC .

BLOOD, 2001, 98 (09) :2645-2650

[4] Molecular analysis of the granulocyte colony-stimulating factor receptor [J].

Avalos, BR .

BLOOD, 1996, 88 (03) :761-777

[5] Mutations in the ELA2 gene correlate with more severe expression of neutropenia:: a study of 81 patients from the French Neutropenia Register [J].

Bellanné-Chantelot, C ;

Clauin, S ;

Leblanc, T ;

Cassinat, B ;

Rodrigues-Lima, F ;

Beaufils, S ;

Vaury, C ;

Barkaoui, M ;

Fenneteau, O ;

Maier-Redelsperger, M ;

Chomienne, C ;

Donadieu, J .

BLOOD, 2004, 103 (11) :4119-4125

[6] Analysis of granulocyte colony stimulating factor receptor isoforms, polymorphisms and mutations in normal haemopoietic cells and acute myeloid leukaemia blasts [J].

Bernard, T ;

Gale, RE ;

Linch, DC .

BRITISH JOURNAL OF HAEMATOLOGY, 1996, 93 (03) :527-533

[7] THE PRODUCTION AND DESTRUCTION OF GRANULOCYTES IN NORMAL AND LEUKEMIC MAN [J].

BIERMAN, HR ;

KELLY, KH ;

MARSHALL, GJ ;

BALUDA, MA ;

CORDES, FL .

ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1959, 77 (03) :417-430

[8] RECOMBINANT HUMAN GRANULOCYTE-COLONY-STIMULATING FACTOR IN THE TREATMENT OF PATIENTS WITH NEUTROPENIA [J].

BOXER, LA ;

HUTCHINSON, R ;

EMERSON, S .

CLINICAL IMMUNOLOGY AND IMMUNOPATHOLOGY, 1992, 62 (01) :S39-S46

[9] GROWTH OF MOUSE BONE MARROW CELLS IN VITRO [J].

BRADLEY, TR ;

METCALF, D .

AUSTRALIAN JOURNAL OF EXPERIMENTAL BIOLOGY AND MEDICAL SCIENCE, 1966, 44 :287-&

[10] Kostmann syndrome or infantile genetic agranulocytosis, part one:: Celebrating 50 years of clinical and basic research on severe congenital neutropenia [J].

Carlsson, Goran ;

Andersson, Mats ;

Putsep, Katrin ;

Garwicz, Daniel ;

Nordenskjold, Magnus ;

Henter, Jan-Inge ;

Palmblad, Jan ;

Fadeel, Bengt .

ACTA PAEDIATRICA, 2006, 95 (12) :1526-1532

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