Literature DB >> 1130195

Infantile genetic agranulocytosis. A review with presentation of ten new cases.

R Kostman.   

Abstract

A review of the literature on the subject since 1956 is made in connection with a presentation of ten new cases from northern Sweden. Nine of these are related to the main pedigree published in 1956. Consanguinity between the parents has been established in two of the new families. The clinical course was identical to that described in 1956. A few additional details are presented. The granulocytopenia is present on the first day of life and the granulocyte count subsequently rapidly decreases during the first week. The existence of a diaplacental factor is regarded highly probable. It is assumed that the maturation defect in the granulocyte precursors may be due to deficiency of a serum factor. The fact that many cases of infantile genetic agranulocytosis occur sporadically is finally explained.

Entities:  

Mesh:

Year:  1975        PMID: 1130195     DOI: 10.1111/j.1651-2227.1975.tb03847.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN: 0001-656X


  21 in total

Review 1.  Neutrophil disorders and their management.

Authors:  R Lakshman; A Finn
Journal:  J Clin Pathol       Date:  2001-01       Impact factor: 3.411

Review 2.  Neonatal manifestations of inherited bone marrow failure syndromes.

Authors:  Payal P Khincha; Sharon A Savage
Journal:  Semin Fetal Neonatal Med       Date:  2015-12-24       Impact factor: 3.926

Review 3.  Diagnosis and management of primary autoimmune neutropenia in children: insights for clinicians.

Authors:  Piero Farruggia; Carlo Dufour
Journal:  Ther Adv Hematol       Date:  2015-02

4.  Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.

Authors:  M Melin; M Entesarian; G Carlsson; D Garwicz; C Klein; B Fadeel; M Nordenskjöld; J Palmblad; J I Henter; N Dahl
Journal:  Biochem Biophys Res Commun       Date:  2006-12-20       Impact factor: 3.575

5.  A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia.

Authors:  D C Dale; M A Bonilla; M W Davis; A M Nakanishi; W P Hammond; J Kurtzberg; W Wang; A Jakubowski; E Winton; P Lalezari
Journal:  Blood       Date:  1993-05-15       Impact factor: 22.113

Review 6.  Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1).

Authors:  Christoph Klein
Journal:  J Clin Immunol       Date:  2016-12-10       Impact factor: 8.317

7.  Primary immunodeficiency disorders in Sweden: cases among children, 1974-1979.

Authors:  A Fasth
Journal:  J Clin Immunol       Date:  1982-04       Impact factor: 8.317

Review 8.  ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.

Authors:  Marshall S Horwitz; Seth J Corey; H Leighton Grimes; Timothy Tidwell
Journal:  Hematol Oncol Clin North Am       Date:  2012-11-07       Impact factor: 3.722

Review 9.  Hematopoetic stem cell transplantation in neutrophil disorders: severe congenital neutropenia, leukocyte adhesion deficiency and chronic granulomatous disease.

Authors:  Ronit Elhasid; Jacob M Rowe
Journal:  Clin Rev Allergy Immunol       Date:  2010-02       Impact factor: 8.667

10.  Severe congenital neutropenia: genetics and pathogenesis.

Authors:  Laurence A Boxer
Journal:  Trans Am Clin Climatol Assoc       Date:  2006
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.