Neutropenia is defined as the reduction in the absolute number of neutrophils in the blood circulation. Acute neutropenia is a relatively frequent finding, whereas disorders of production of neutrophils are quite rare. Acute neutropenia is often well tolerated and normalizes rapidly. Neutropenia arising as a result of underlying hematologic disorders is far more significant. Such a patient may ...

The G6PC3 gene encodes the ubiquitously expressed glucose-6-phosphatase enzyme (G-6-Pase β or G-6-Pase 3 or G6PC3). Bi-allelic G6PC3 mutations cause a multi-system autosomal recessive disorder of G6PC3 deficiency (also called severe congenital neutropenia type 4, MIM 612541). To date, at least 57 patients with G6PC3 deficiency have been described in the literature.G6PC3 deficiency is characteri...

Mutations in ELA2 encoding the neutrophil granule protease, neutrophil elastase (NE), are the major cause of the 2 main forms of hereditary neutropenia, cyclic neutropenia and severe congenital neutropenia (SCN). Genetic evaluation of other forms of neutropenia in humans and model organisms has helped to illuminate the role of NE. A canine form of cyclic neutropenia corresponds to human Hermans...

OBJECTIVES/HYPOTHESIS We report the first case of laryngeal stenosis with granuloma in a patient with severe congenital neutropenia (SCN). STUDY DESIGN Case report and retrospective review. METHODS Review of medical records. RESULTS A 6-year-old female who was diagnosed with SCN presented with a cough and wheezing. An endoscopic study revealed laryngeal stenosis with granuloma. Tracheotom...

Severe congenital neutropenia (SCN) of infancy is a rare disorder with onset very early in life. Until the introduction of bone marrow transplantation as a curative strategy, and more recently with the introduction of recombinant granulocyte colony-stimulating factor (G-CSF), this was often a lethal disorder. Although G-CSF has prolonged survival, patients continue to die of infectious complica...

Six children with severe congenital neutropenia and repeated life-threatening infections were investigated by examining clinical features and myeloid cell ultrastructure, cytochemistry, and in vitro proliferation. Despite the presence of neutropenia, normal numbers of colony-forming cells (CFC) were present in blood and marrow specimens, and colony-stimulating activities (CSA) from blood cells ...

Chronic neutropenia is a rare hematologic abnormality encountered in primary care. It can be caused by a wide range of acquired and congenital factors. Very rarely, it can occur as isolated chronic neutropenia where other hematologic cell lines are completely intact. The case discussed here dealt with a similar situation where a 29-year-old female patient presented with severe neutropenia and o...