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Cyclic neutropenia (CyN), like severe congenital neutropenia (SCN), is a rare disorder. It is considered that in the general population, CyN has a frequency of one in one million. [ 1 ] It is the result of autosomal dominant mutation in ELANE gene located on the short arm (p) of chromosome 19 (19p13.3), the gene encoding neutrophil elastase ...
A Bone marrow biopsy is also recommended to evaluate bone marrow function to remove concerns or rule out other possible hematologic disorders. [28] The bone marrow usually shows early granulocyte precursors, but myelopoietic development stops ("arrests") at the promyelocyte and/or myelocyte stage, so that few maturing forms are seen. [29]
Neutropenia is an abnormally low concentration of neutrophils (a type of white blood cell) in the blood. [4] Neutrophils make up the majority of circulating white blood cells and serve as the primary defense against infections by destroying bacteria, bacterial fragments and immunoglobulin-bound viruses in the blood. [5]
Autoimmune neutropenia (AIN) is a form of neutropenia which is most common in infants and young children [1] where the body identifies the neutrophils as enemies and makes antibodies to destroy them. Primary autoimmune neutropenia, another name for autoimmune neutropenia, is an autoimmune disease first reported in 1975 that primarily occurs in ...
Mutations in this gene are associated with cyclic neutropenia (CyN) and severe congenital neutropenia (SCN). At least 95 disease-causing mutations in this gene have been discovered. [ 9 ] This gene is clustered with other serine protease gene family members, azurocidin 1 and proteinase 3 genes, at chromosome 19pter.
The treatment may mirror that of chemotherapy-induced myelosuppression or may be to change to an alternate drug or to temporarily suspend treatment. Because the bone marrow is the manufacturing center of blood cells, the suppression of bone marrow activity causes a deficiency of blood cells.
Neutropenia – a type of leukopenia, with a specific deficiency in neutrophils [2] Thrombocytopenia – a deficiency of platelets; Pancytopenia – when all three types of blood cells; red blood cells, white blood cells, and platelets, are all deficient. This is a life-threatening disorder that is a characteristic of aplastic anemia. [3]
In addition, myelosuppression causing neutropenia and thrombocytopenia can also occur and be dose-limiting. However, these side effects are usually mild relative to bone marrow transplantation and other treatment options for people with advanced disease.