摘要: CONGENITAL neutropenia is a rare disease characterized by markedly decreased or absent peripheral blood neutrophils and totally depressed granulopoiesis beyond the promyelocyte-myelocyte stage. Erythropoiesis megakaryocytes are normal. Eosinophilia, monocytosis, hypergammaglobulinemia, recurrent infections associated findings death in early infancy usual outcome. Diffuse inflammatory reactions devoid of consisting predominantly lymphocytes, plasma cells, histiocytes seen postmortem tissues. Although classic family studies Kostmann 1 siblings described Andrews et al 2 suggest an autosomal recessive mode inheritance, other single fetal cases 3-8 have not demonstrated familial predisposition. The first report this syndrome Negro infant results leukocyte function form basis paper. Report Case A girl (URMC-SMH 631912) was product 30-year-old gravida 7, para 5, abortio mother who Rh positive
sci-hub.se 参考文章(17)
WOLF W. ZUELZER, MEHDI BAJOGHLI, Ruth M. Evans, CHRONIC GRANULOCYTOPENIA IN CHILDHOOD. Blood. ,vol. 23, pp. 359- 374 ,(1964) , 10.1182/BLOOD.V23.3.359.359
Barton Childs, Margaret Borden, William L. Nyhan, Robert E. Cooke, Leslie Bard, Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I. Pediatrics. ,vol. 27, pp. 522- 538 ,(1961)
D. Aarskog, Infantile congenital aneutrocytosis. Archives of Disease in Childhood. ,vol. 36, pp. 511- 514 ,(1961) , 10.1136/ADC.36.189.511
James P. Andrews, James T. McClellan, Carl H. Scott, Lethal congenital neutropenia with eosinophilia occurring in two siblings The American Journal of Medicine. ,vol. 29, pp. 358- 362 ,(1960) , 10.1016/0002-9343(60)90031-0
Richard Hong, William K. Schubert, Eugene V. Perrin, Clark D. West, Antibody deficiency syndrome associated with beta-2 macroglobulinemia. The Journal of Pediatrics. ,vol. 61, pp. 831- 842 ,(1962) , 10.1016/S0022-3476(62)80193-0
John W. Rebuck, James H. Crowley, A METHOD OF STUDYING LEUKOCYTIC FUNCTIONS IN VIVO Annals of the New York Academy of Sciences. ,vol. 59, pp. 757- 805 ,(1955) , 10.1111/J.1749-6632.1955.TB45983.X
Goronwy O. Broun, Francis K. Herbig, John R. Hamilton, Leukopenia in Negroes New England Journal of Medicine. ,vol. 275, pp. 1410- 1413 ,(1966) , 10.1056/NEJM196612222752504
Solomon J. Zak, Robert A. Good, Disturbances in gamma globulin synthesis as experiments of nature. Pediatrics. ,vol. 18, pp. 109- 149 ,(1956)
JAN BJURE, LARS R. NJLSSON, CLAUS MUNK PLUM, Familial Neutropenia Possibly Caused by Deficiency of a Plasiiia Factor Acta Paediatrica. ,vol. 51, pp. 497- 508 ,(1962) , 10.1111/J.1651-2227.1962.TB06574.X
D. Gairdner, J. Marks, J. D. Roscoe, Blood Formation in Infancy: Part I.--The Normal Bone Marrow Archives of Disease in Childhood. ,vol. 27, pp. 128- 133 ,(1952) , 10.1136/ADC.27.132.128