- Neutropenia is a dangerous and potentially fatal condition that exposes patients to recurrent infections. Primary causes constitute a small portion of the whole and are mostly unknown. Congenital neutropenia is a primary immunodeficiency disorder associated with recurrent bacterial infections, auto-inflammatory and auto-immune phenomena, hematologic malignancy and neuro-psychiatric manifestations. It results from impaired maturation of neutrophil granulocytes and is associated with a variety of syndromic diseases including: oculocutaneous albinism, metabolic diseases and bone marrow failure syndromes. Congenital neutropenia is a genetically heterogeneous group of related disorders. It demonstrates several modes of inheritance, including autosomal recessive, autosomal dominant, sporadic and X-linked forms.
- The Igenomix Congenital Neutropenia Precision Panel can be as a tool for an accurate and directed diagnosis as well as differential diagnosis of recurrent bacterial infections ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Igenomix Congenital Neutropenia Precision Panel is used for patients with a clinical diagnosis or suspicion with or without the following symptoms:
- Oral ulcers
- Sinusitis, otitis media
- Lymphadenopathy, lymphadenitis
- Bronchitis, pneumonia
- Cutaneous abscess
- Bacteremia and/or septicemia
- Urinary tract infection
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment involving a multidisciplinary team focusing on preventive care of infections and other complications, symptomatic medical care for neurologic symptoms alongside early surveillance for cancer detection.
- Risk assessment of asymptomatic family members according to the mode of inheritance via genetic counselling and explanation of the multisystem nature of the disease.
- Improvement of delineation of genotype-phenotype correlation.
Spoor, J., Farajifard, H., & Rezaei, N. (2019). Congenital neutropenia and primary immunodeficiency diseases. Critical reviews in oncology/hematology, 133, 149–162. https://doi.org/10.1016/j.critrevonc.2018.10.003
Donadieu, J., Beaupain, B., Fenneteau, O., & Bellanné-Chantelot, C. (2017). Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history. British journal of haematology, 179(4), 557–574. https://doi.org/10.1111/bjh.14887
Donadieu, J., Fenneteau, O., Beaupain, B., Mahlaoui, N., & Chantelot, C. B. (2011). Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet journal of rare diseases, 6, 26. https://doi.org/10.1186/1750-1172-6-26
Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M., Sandrock, I., & Schäffer, A. et al. (2006). HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nature Genetics, 39(1), 86-92. doi: 10.1038/ng1940
Klein, C. (2009). Congenital neutropenia. Hematology, 2009(1), 344-350. doi: 10.1182/asheducation-2009.1.344
Ward, A., & Dale, D. (2009). Genetic and molecular diagnosis of severe congenital neutropenia. Current Opinion In Hematology, 16(1), 9-13. doi: 10.1097/moh.0b013e32831952de
Boztug, K., & Klein, C. (2013). Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase. Hematology/oncology clinics of North America, 27(1), 43–vii. https://doi.org/10.1016/j.hoc.2012.11.004