Long-lasting, late-onset, and chronic idiopathic neutropenia project
An SWG Grant-supported project initiated by EHA's SWG on Granulocytes and Constitutional Marrow Failure Disorders.
Project team
Dr Francesca Fioredda
Senior Hematologist
Giannina Gaslini Children's Hospital
Italy
Dr Grigorios Tsaknakis
Post-doctoral researcher, Department of Hematology, School of Medicine
University of Crete
Greece
Project background and aims
This SWG Grant-funded project will help to support an increased knowledge of LLNp, LONp, and CIN.
Neutropenia is a condition that affects the amount of neutrophils in a person's blood. It means they have a low number of these white blood cells.
There are two types of neutropenia that are not categorized as either primary autoimmune neutropenia or the idiopathic neutropenia of infancy. These are:
- Long-lasting neutropenia (LLNp)—which is a type of neutropenia that lasts for more than the typical period of 24 to 36 months
- Late-onset neutropenia (LONp)—which is a type of neutropenia that has a delayed or a very delayed onset
Both of these types of neutropenia:
- Are sometimes diagnosed by chance, due to the very mild clinical phenotype
- Do not usually show remission
As shown in a recent paper from our group, both of these forms might be considered as a unique entity that's sustained, at least in a little subgroup, by an underlying genetic background.
In both cases, patients show signs of immune dysregulation. This may be present at the beginning, with a tendency to worsen over time (leukopenia, lymphopenia with decreased B and NK cell numbers).
We could speculate that, because they present few symptoms, neutropenias that arise in late infancy or adolescents may be under-diagnosed until adulthood. At that point, they will present as chronic idiopathic neutropenia (CIN).
If this hypothesis is correct, there could be a link that joins neutropenia in children with neutropenia in adults. In this view, any collaboration between pediatricians and adult hematologists is of outstanding importance.
This SWG Grant-funded project will help to create the basis of that connection by supporting increased knowledge of LLNp, LONp, and CIN. In particular, it will provide information on their:
- Clinical and immunological features
- Genetic background—through the application of the whole-exome sequencing (WES) technique
By furthering knowledge on LLNp, LONp, and CIN, we can help clinicians to:
- Understand the underlying mechanisms of these disorders
- Tailor diagnostic work-ups
- Manage all affected patients more appropriately
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