scholarly journals Kostmann syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Kostmann Syndrome

Trisomy 21 and isodicentric chromosome 21 in Kostmann syndrome following treatment with G-CSF

2001 ◽  
Vol 126 (1) ◽  
pp. 78-80 ◽  
Author(s):  
Birgitte Roland ◽  
Richard C Woodman ◽  
Keith Jorgenson ◽  
Alfredo Pinto
Keyword(s):  
Trisomy 21 ◽  
Chromosome 21 ◽  
Kostmann Syndrome ◽  
Isodicentric Chromosome

scholarly journals THE OCCURRENCE OF KOSTMANN SYNDROME IN PRETERM NEONATES. 905

1996 ◽  
Vol 39 ◽  
pp. 153-153
Author(s):  
Darlene A Calhoun ◽  
Robert D Christensen
Keyword(s):  
Preterm Neonates ◽  
Kostmann Syndrome

Recurrent epididymo-orchitis in an 8-year-old child with Kostmann syndrome (severe congenital neutropenia)

2006 ◽  
Vol 26 (2) ◽  
pp. 153-154
Author(s):  
Ümit Çelik ◽  
Derya Alabaz ◽  
Emine Kocabas ◽  
Goksel Leblebisatan
Keyword(s):  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia ◽  
Kostmann Syndrome

scholarly journals Management of kostmann syndrome in the g-csf era

2000 ◽  
Vol 109 (3) ◽  
pp. 490-495 ◽  
Author(s):  
C. Zeidler ◽  
L. Boxer ◽  
D. C. Dale ◽  
M. H. Freedman ◽  
S. Kinsey ◽  
...  
Keyword(s):  
Kostmann Syndrome

scholarly journals Failure in Implant Rehabilitation in a Patient With Severe Congenital Neutropenia (Kostmann Syndrome)

2012 ◽  
Vol 70 (4) ◽  
pp. e260-e263 ◽  
Author(s):  
Marian Marín-Berná ◽  
Rocío-Trinidad Velázquez-Cayón ◽  
Daniel Torres-Lagares ◽  
Pilar Hita-Iglesias ◽  
Kahina Bouferrache ◽  
...  
Keyword(s):  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia ◽  
Kostmann Syndrome

scholarly journals Immunoblotting validation of research antibodies generated against HS1-associated protein X-1 in the human neutrophil model cell line PLB-985.

F1000Research ◽  
2015 ◽  
Vol 4 ◽  
pp. 148
Author(s):  
Peter Cavnar ◽  
Kristina Inman
Keyword(s):  
Cell Line ◽  
Leukemia Cell ◽  
Leukemia Cell Line ◽  
Igg Antibody ◽  
Apoptotic Protein ◽  
Kostmann Syndrome ◽  
Protein X ◽  
Polyclonal Igg ◽  
Model Cell ◽  
Cell Densities

HS1-associated protein X-1 (Hax1) is a 35 kDa protein that is ubiquitously expressed. Hax1 is an anti-apoptotic protein with additional roles in cell motility, and autosomal recessive loss of Hax1 results in Kostmann syndrome, a form of severe congenital neutropenia. Because of the important role of Hax1 in neutrophils we demonstrate here validation of two commercially available research antibodies directed against human Hax1 in the human myeloid leukemia cell line PLB-985 cells. We show that both the mouse anti-Hax1 monoclonal IgG directed against amino acids 10-148 of Hax1 and a rabbit anti-Hax1 polyclonal IgG antibody directed against full-length Hax1 reliably and consistently detect Hax1 during immunoblotting of three different PLB-985 cell densities. Using shRNA mediated Hax1 knockdown, we demonstrate the specificity of both Hax1 antibodies. In addition, our results suggest that the rabbit anti-Hax1 polyclonal antibody provides a stronger intensity in detecting Hax1 protein, with detection in as few as 0.1 x 10 6 cells in 6 total replicates we have performed.

scholarly journals Increased serum levels of granulocyte colony-stimulating factor in patients with severe congenital neutropenia

Blood ◽  
1991 ◽  
Vol 77 (9) ◽  
pp. 1919-1922 ◽  
Author(s):  
K Mempel ◽  
T Pietsch ◽  
T Menzel ◽  
C Zeidler ◽  
K Welte
Keyword(s):  
Serum Levels ◽  
Granulocyte Colony Stimulating Factor ◽  
Colony Stimulating Factor ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia ◽  
Maturation Arrest ◽  
Kostmann Syndrome ◽  
Stimulating Factor ◽  
Normal Controls ◽  
Csf Production

Severe congenital neutropenia (SCN), also known as Kostmann Syndrome, is characterized by a maturation arrest of myelopoiesis at the level of promyelocytes with absence of neutrophils in bone marrow (BM) and blood. Hypotheses of the pathophysiology of SCN include (1) defective production of granulocyte colony-stimulating factor (G-CSF), and/or (2) defective response to G-CSF. To exclude defective G-CSF production we tested sera from patients with SCN for the presence of G-CSF using Western blot analysis and NFS-60 proliferation assay. Using these assays we were able to detect increased G-CSF serum levels in SCN patients (150 to 910 pg/mL) as compared with normal controls (between undetectable and 100 pg/mL). These results suggest that patients with SCN have no defect in G-CSF production but a defective response of neutrophil precursors to endogenous G-CSF.

Differential expression and regulation of GTPases (RhoA and Rac2) and GDIs (LyGDI and RhoGDI) in neutrophils from patients with severe congenital neutropenia

Blood ◽  
2000 ◽  
Vol 95 (9) ◽  
pp. 2947-2953 ◽  
Author(s):  
Brigitte Kasper ◽  
Nicola Tidow ◽  
Dirk Grothues ◽  
Karl Welte
Keyword(s):  
Superoxide Anion ◽  
Granulocyte Colony Stimulating Factor ◽  
Colony Stimulating Factor ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia ◽  
Maturation Arrest ◽  
Guanosine Diphosphate ◽  
Kostmann Syndrome ◽  
Gdp Dissociation Inhibitor ◽  
Stimulating Factor

Severe congenital neutropenia (SCN) or Kostmann syndrome is a disorder of myelopoiesis characterized by a maturation arrest at the stage of promyelocytes or myelocytes in bone marrow and absolute neutrophil counts less than 200/μL in peripheral blood. Treatment of these patients with granulocyte colony-stimulating factor (G-CSF) leads to a significant increase in circulating neutrophils and a reduction in infection-related events in more than 95% of the patients. To date, little is known regarding the underlying pathomechanism of SCN. G-CSF-induced neutrophils of patients with SCN are functionally defective (eg, chemotaxis, superoxide anion generation, Ca++mobilization). Two guanosine triphosphatases (GTPases), Rac2 and RhoA, were described to be involved in many neutrophil functions. The expression of these GTPases and their regulation in patients' neutrophils were of interest. This study determined that the guanosine diphosphate (GDP)-dissociation inhibitor RhoGDI is overexpressed at the protein level in patients' neutrophils and that overexpression is a result of G-CSF treatment. RhoA and LyGDI are expressed at similar levels, whereas Rac2 shows a decreased expression. In addition, association of Rac2 and RhoGDI or LyGDI is abrogated or not detectable based on the low Rac2 expression in patients' neutrophils.

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