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Severe congenital neutropenia (SCN), also often known as Kostmann syndrome or disease, is a group of rare disorders that affect myelopoiesis, causing a congenital form of neutropenia, usually without other physical malformations. SCN manifests in infancy with life-threatening bacterial infections. [2]
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.
Congenital insensitivity to pain with anhidrosis: CIP Congenital insensitivity to pain: CJD Creutzfeldt–Jakob disease: CKD Chronic kidney disease: CLOVES syndrome Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities syndrome CML Chronic myelogenous leukemia: CMs Chiari malformations: CMT ...
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 ...
Congenital neutropenia refers to an assorted group of diseases that share a common set of signs and symptoms, viz., neutropenia, i.e. a low circulating blood neutrophil count, increased susceptibility to infections, various organ dysfunctions, and an extraordinarily high risk of developing leukemia. [13]
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]
Severe Congenital Neutropenia: due to ELA2 deficiency (with myelodysplasia) Severe Congenital Neutropenia: due to GFI1 deficiency (with T/B lymphopenia) Elastase deficiency; Kostmann syndrome (HAX1 deficiency) Neutropenia with cardiac and urogenital malformations; Glycogen storage disease type 1b; Cohen syndrome; Clericuzio syndrome; Cyclic ...