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Summary |
Distinction from MPO Deficiency |
| Chronic Granulomatous Disease (CGD) |
An inherited disorder of phagocytic cells. Inability of phagocytes to produce superoxide anions (O2-). Recurrent life-threatening bacterial and fungal infections. Caused by defect(s) in the NADPH oxidase complex |
In periods of health, CGD patients have normal MPO levels. Tests of superoxide generation (e.g. The nitro blue-tetrazoium (NBT) test, the dihydrorhodamine (DHR), or the cytochrome C reduction assay) are all normal in MPO patients (and diagnostic of CGD). |
Glycogen-Storage Disease Type 1 (GSD1)
(=Glucose-6-phosphate dehydrogenase deficiency) |
Patients have large livers with excessive glycogen.
Patients present with hypoglycemia, lactic acidosis, hypertriglyceridemia, and hyperuricemia. A common manifestation of this disease is neutropenia, putting the patient at risk of increased infection. |
The only similarity with MPO is the increased infection. MPO is not associated with a decrease in neutrophil or the other constellation of symptoms found in GSD1. |
| Hyperimmunoglobulinemia E (Job) Syndrome |
Characterized by recurrent skin abscesses, pneumonia, eczematous dermatitis, and elevated IgE levels (>10 times normal values). Both autosomal dominant and recessive forms have been described. Caused by mutations in the STAT3 and DOCK8 genes. Caused by abnormal neutrophil chemotaxis due to decreased IFNγ by T lymphocytes. |
MPO patients have normal IgE levels (in the absence of allergies), whereas Job Syndrome patients have 10-100 fold increases and none of the dermatologic manifestations of disease. |
| Kostmann Disease |
Rare disease characterized by decreased neutrophil counts (ANC<200/ml). Severe persistent neutropenia results in susceptibility to bacterial infections. The autosomal recessive form is caused by mutations in the HAX1 genes; the autosomal dominant form is caused by mutations in the neutrophil elastase gene (ELS2). |
Bone marrow normal in MPO patients; Kostmann disease patients have early granulocytes (promyelocyte/myelocyte arrest), but few maturing forms. |
| Leukocyte Adhesion Deficiency (LAD) |
Rare primary immunodeficiency characterized by marked leukocytosis and localized bacterial infections. Caused by a failure to express CD18, which composes the CD11a/CD18 (LFA-1) expressed on lymphocytes and antigen presenting cells. |
LAD patients have extremely elevated neutrophils (6-10 x normal) as they cannot leave the vessels. Flow cytometric analysis demonstrates a lack of CD18 on peripheral blood. |
| Shwachman-Diamond Syndrome |
Rare autosomal recessive disorder characterized by pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. Symptoms of malnutrition secondary to pancreatic insufficiency predominate. Caused by mutations in the SBDS gene believed to be involved in RNA metabolism or ribosome assembly.
SDS patients have a low neutrophil count the leaves patients at risk of developing severe recurrent infections, along with anemia and thrombocytopenia. Bone marrow typically is hypocellular with maturation arrest of all myeloid lineages. |
MPO patients lack evidence of pancreatic insufficiency, bone defects, and abnormal peripheral blood cell counts. |
