Overview
- 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.
Indication
- The Igenomix Congenital Neutropenia Precision Panel is used for patients with a clinical diagnosis or suspicion with or without the following symptoms:
- Oral ulcers
- Gingivitis
- Pharyngitis
- Sinusitis, otitis media
- Lymphadenopathy, lymphadenitis
- Bronchitis, pneumonia
- Cellulitis
- Cutaneous abscess
- Abscesses
- Bacteremia and/or septicemia
- Urinary tract infection
Clinical Utility
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.
References
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
User validation required to continue..
Please type the text you see in the image into the text box and submit
[ Refresh the page to generate a new image. ]
Note:
- If you get here while trying to submit a form, you may have to re-submit the form.
- Access to this domain may need the browser to have javascript and cookie support enabled.
Validation needed due to the detection of invalid input from this client IP address, error code : 338
Number of attempts left : 5