elastase, neutrophil expressed
Última actualización 18 Aug 2020
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El ELANE gene provides instructions for making a protein called neutrophil elastase. This protein is found in neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. When the body starts an immune response to fight an infection, neutrophils release neutrophil elastase. This protein then modifies the function of certain cells and proteins to fight the infection.
Normal function
El ELANE gene provides instructions for making a protein called neutrophil elastase. This protein is found in neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. When the body starts an immune response to fight an infection, neutrophils release neutrophil elastase. This protein then modifies the function of certain cells and proteins to fight the infection.
Conditions referring to this gene or chromosome
Otros nombres
bone marrow serine protease
ELA2
elastase-2
ELNE_HUMAN
granulocyte-derived elastase
NE
neutrophil elastase
Related patient information and medicines
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El sistema inmunológico
The first line of defence is your body's skin and mucous membranes. If pathogens manage to get through these barriers, they encounter special white blood cells present in your bloodstream. There are different types of white cells, called neutrophils (polymorphs), lymphocytes, eosinophils, monocytes, and basophils. White blood cells travel in your.
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Policitemia vera
Policitemia vera (PRV) is a myeloproliferative disorder, which means the bone marrow makes too many blood cells. It is also sometimes just called polycythaemia (PV). What is normal blood made ... Blood cells are divided into three main types: Red cells (erythrocytes). White cells (leukocytes). There are different types of white cells,.
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Leucemia mieloide crónica
Chronic myeloid leukaemia (CML) is sometimes called chronic myelogenous leukaemia, pancreatitis granulocytic leukaemia, or chronic myelocytic leukaemia. What is chronic myeloid leukaemia. CML develo... The abnormal stem cell multiplies and the cells that are made from the abnormal stem cells mature and develop into near-normal white cells - mainly.
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Medicamentos antitiroideos
Antithyroid medicines are used to treat an overactive thyroid gland (hyper. Carbimazole is the most commonly used medicine. Antithyroid drug therapy can reduce the numbers of these cells being p... The lower number of red blood cells causes anaemia. The effect on white sangre cells (o neutrophils) is called agranulocytosis. The drastically reduced.
Patient information leaflet
Leucemias infantiles
With leukaemia, the cancerous (malignant) cells in the bone marrow spill out into the bloodstream... There are several types of leukaemia. White cells (leukocytes). There are different types of white cells, which are called neutrophils (polymorphs), lymphocytes, eosinophils, monocytes and basophils. They are part of the immune system. Plasma is.
Patient information leaflet
Análisis de sangre
Millions of red blood cells are made each day. Red cells contain a chemical called haemoglobin. This binds to oxygen and takes oxygen from the lungs to all parts of the body. White cells (leukocytes) There are different types of white cells which are called neutrophils (polymorphs), lymphocytes, eosinophils, monocytes and basophils. They are part.
Lecturas adicionales y referencias
- elastase, neutrophil expressed; MedlinePlus, National Library of Medicine.
- Bellanne-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, Vaury C, Barkaoui M, Fenneteau O, Maier-Redelsperger M, Chomienne C, Donadieu J. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. Blood. 2004 Jun 1;103(11):4119-25. doi: 10.1182/blood-2003-10-3518. Epub 2004 Feb 12.
- Boztug K, Klein C. Novel genetic etiologies of severe congenital neutropenia. Curr Opin Immunol. 2009 Oct;21(5):472-80. doi: 10.1016/j.coi.2009.09.003. Epub 2009 Sep 24.
- Grenda DS, Murakami M, Ghatak J, Xia J, Boxer LA, Dale D, Dinauer MC, Link DC. Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. Blood. 2007 Dec 15;110(13):4179-87. doi: 10.1182/blood-2006-11-057299. Epub 2007 Aug 30.
- Horwitz MS, Duan Z, Korkmaz B, Lee HH, Mealiffe ME, Salipante SJ. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood. 2007 Mar 1;109(5):1817-24. doi: 10.1182/blood-2006-08-019166. Epub 2006 Oct 19.
- Rosenberg PS, Alter BP, Link DC, Stein S, Rodger E, Bolyard AA, Aprikyan AA, Bonilla MA, Dror Y, Kannourakis G, Newburger PE, Boxer LA, Dale DC. Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. Br J Haematol. 2008 Jan;140(2):210-3. doi: 10.1111/j.1365-2141.2007.06897.x. Epub 2007 Nov 20.
- Schaffer AA, Klein C. Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? Curr Opin Allergy Clin Immunol. 2007 Dec;7(6):481-94. doi: 10.1097/ACI.0b013e3282f1d690.
- Xia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC, Link DC. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol. 2009 Nov;147(4):535-42. doi: 10.1111/j.1365-2141.2009.07888.x. Epub 2009 Sep 22.
- Zeidler C, Germeshausen M, Klein C, Welte K. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol. 2009 Feb;144(4):459-67. doi: 10.1111/j.1365-2141.2008.07425.x. Epub 2008 Dec 10.
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