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It can be caused by autosomal dominant inheritance of the ELANE gene, autosomal recessive inheritance of the HAX1 gene. There is an increased risk of leukemia and myelodysplastic cancers. Most cases of SCN respond to treatment with granulocyte colony-stimulating factor ( filgrastim ), which increases the neutrophil count and decreases the ...
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 ...
The congenital neutropenia (severe and cyclic type) is autosomal dominant, with mutations in the ELA2 gene (neutrophil elastase) as the most common genetic reason for this condition. [7] Acquired neutropenia (immune-associated neutropenia) is due to anti-neutrophil antibodies that target neutrophil-specific antigens , ultimately altering ...
Infusions of immune globulin can reduce the frequency of bacterial infections, and G-CSF or GM-CSF therapy improves blood neutrophil counts. [5]As WHIM syndrome is a molecular disease arising from gain-of-function mutations in CXCR4, preclinical studies identified plerixafor, a specific CXCR4 antagonist, as a potential mechanism-based therapeutic for the disease. [6]
Bare lymphocyte syndrome 2 is autosomal recessive in inheritance: Specialty: Immunology, pediatrics, endocrinology Symptoms: Neutropenia [1] Causes: Absence of human leukocyte antigen class II expression [1] Diagnostic method: Genetic test [1] Medication: Bone marrow transplant [2]
This condition is inherited in an autosomal recessive manner Griscelli syndrome type 2 (also known as " partial albinism with immunodeficiency ") is a rare autosomal recessive syndrome characterized by variable cutenous albinism, silver colored metallic looking hair, frequent bacterial or viral infections, neutropenia , and thrombocytopenia .
Myelokathexis is a congenital disorder of the white blood cells that causes severe, chronic leukopenia (a reduction of circulating white blood cells) and neutropenia (a reduction of neutrophil granulocytes). [1] The disorder is believed to be inherited in an autosomal dominant manner.
Pelger–Huët anomaly has an autosomal dominant pattern of inheritance. It is a genetic disorder with an autosomal dominant inheritance pattern. Heterozygotes are clinically normal, although their neutrophils may be mistaken for immature cells which may cause mistreatment in a clinical setting.