severe  congenital  neutropenia  (scn)  is  a  rare  primary  immunodeficiency   disease. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr  and  g6pc3.  the  aim  of  this  study  was  to  find  different  gene  mutations responsible for scn in iranian patients. twenty-seven   patients   with   scn  referred   to  immunology,   asthma   and  allergy r...

severe congenital neutropenia is one of primary immunodeficiency disorders that characterized by severe neutropenia and is associated with severe systemic bacterial infections from  early  infancy.  granulocyte  colony  stimulating  factor  (gcsf)  is  clinically  used  as  a treatment for congenital and acquired neutropenia. the aim of this study was evaluation of gcsf (pd- grastim) in treatme...

severe congenital neutropenia (scn) is a rare primary immunodeficiency. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr. also, recently g6pc3 as a rare gene in scn has been reported. patients with g6pc3 often have cardiac and/or urogenital malformations. two patients with   persistent   severe   neutropenia,   recurrent   infections   and   maturatio...

Severe congenital neutropenia includes a variety of hematological disorders characterized by severe neutropenia with absolute neutrophil counts (ANCs) below 500/ml and associated with severe systemic bacterial infections from early infancy. The genetic basis of many of the inherited forms of congenital neutropenia have been documented. Genetic alterations have also been identified in multifacet...

Severe congenital neutropenia (SCN) is a rare primary myelopoiesis disorder, characterized by persistent severe neutropenia and early-onset bacterial infections. Herein, we describe an 11-month-old male who was referred with recurrent cutaneous infections and chronic diarrhea. Serial complete blood counts indicated persistent neutropenia. Bone marrow aspiration of the patient demonstrated matur...

Introduction Neutropenia is defined in the literature as absolute neutrophil counts in peripheral blood of less than 1500 cells/mm3 in more than one year old and less than 2000cells/mm3 in children in the first year old of life. Neutropenia is classified as mild, moderate or severe, and may be congenital or acquired, persistent or not. Kostmann syndrome is a severe neutropenia, the incidence va...

Congenital neutropenia is a rare hematopoietic disease, which occurs sporadically or as an auto-somal dominant inherited disorder. Pathogenesis of congenital neutropenia can now be attributed to mutations of the ELA2 gene encoding neutrophil elastase. A child with severe congenital neutropenia with a heterozygous mutation G1887A in exon 2 of ELA2 gene is reported.

The pathogenesis of the granulopoietic failure in three children with severe congenital neutropenia was studied. Mature neutrophils were absent from both peripheral blood and bone marrow. Assay of bone marrow granulocyte colony-forming cells (CFU-C) in a methylcellulose tissue culture system using colony-stimulating activity (CSA) from peripheral blood leukocytes demonstrated normal or increase...