KOSTMANN`S NEUTROPENIA

From: JUAN LUIS CASTILLO NAVARRETE (axelyoyi@entelchile.net)
Date: Mon Oct 18 1999 - 23:11:35 EST


HI FLOWERS:

Today I have a immunphenotyping of a  patient,a male,4 years, the sample
was bone marrow (als periphereal blood), and the diagnosis was
Kostmann`s neutropenia. Also the patient is under treatment with G-CSF.
In the immunophenotyping I found a few things that not are clear for me:
the netrophil population have a normal FSC but have a low SSC, and also
have normal markers for myeloid (CD33, CD13, MPO, TDT), but also have a
expression of CD61 (M7?). Also I found a little population of cells with
low SSC and Low expression of CD45 (the classical region of blast). This
cells was CD19, CD20, HLA-DR, CD10(CALLA), MPO dim, TDT(-), CD61(-),
CD34 (-), CD33 (-), CD13 (-), CD14(-).
I search information about Kostmann`s syndrome, and the next is the
principal:

Severe congenital neutropenia (SCN) or Kostmann's syndrome is
characterized by a stop in differentiation of myeloid  progenitor cells
at the myelocytic or promyelocytic stage. with absence of neutrophils in
bone marrow (BM) and blood.  The pathophysiology of SCN is still
unclear. (Exp Hematol 1999 Jun; 27(6):1038-45.
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. (Blood 1991 May; 77(9):1919-22).
The administration of granulocyte- colony-stimulating factor was shown
to be safe and effective also in reducing infectious episodes in these
patients. (Acta Paediatr 1992 Feb; 81(2):133-6).
Thus, it is  hypothesized that the underlying defect responsible for 
SCN is based on an abnormal G-CSF-induced signal transduction  pathway
.eutrophils from SCN patients show an increased autophosphorylation of
JAK2 (a nonreceptor tyrosine kinase involved in the signaling pathway of
G-CSF )in comparison with that of neutrophils from healthy volunteers.
(Blood 1995 Dec; 86(12):4500-5).


So, the patient : May be a leukemia ? , M7 ? , lymphoid ?  or Does the
normal production of bone marrow upon treatment of G-CSF ?

Any idea will helpme

Thanks


JUAN LUIS CASTILLO N.
CITOMETRIA DE FLUJO
HOSPITAL DEL TRABAJADOR
CONCEPCION
CHILE
PHONE:	56-41-201722
FAX:	56-41-311008
EMAIL:	axelyoyi@entelchile.net



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