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IgE is typically the least abundant isotype: blood serum IgE levels in a non-atopic individual are less than 0.0001% of the total Ig concentration, [10] compared to 75% for the IgGs at 10 mg/ml. Despite this, it is capable of triggering anaphylaxis, one of the most rapid and severe immunological reactions. [11]
An IgE level greater than 2,000 IU/mL is often considered diagnostic. [17] However, patients younger than 6 months of age may have very low to non-detectable IgE levels. Eosinophilia is also a common finding with greater than 90% of patients having eosinophil elevations greater than two standard deviations above the normal mean. [ 18 ]
DOCK8 deficiency, also called DOCK8 immunodeficiency syndrome, is the autosomal recessive form of hyperimmunoglobulin E syndrome, a genetic disorder characterized by elevated immunoglobulin E levels, eosinophilia, and recurrent infections with staphylococcus and viruses. It is caused by a mutation in the DOCK8 gene.
Hyper IgM syndrome is a rare primary immune deficiency disorders characterized by low or absent levels of serum IgG, IgA, IgE and normal or increased levels of serum IgM. [ 8 ] They are resulting from mutations in the pathway from B-cell activation to isotype class switching.
It is manifested in infancy and the patient survives till late childhood or adolescence. The disease is characterized by eczema, recurrent cold staphylococcal abscesses, recurrent lung infections, coarse facial features, primary teeth remnants (2 rows of teeth present), high IgE levels and eosinophilia.
Immunoglobulin M (IgM) levels are reduced, IgA and IgE are elevated, and IgG levels can be normal, reduced, or elevated. [4] In addition to thrombocytopenia, WAS patients have abnormally small platelets (i.e. microthrombocytes) and ~30% also have elevated eosinophil counts (i.e. eosinophilia). [5]
Hypergammaglobulinemia is a condition that is characterized by the increased levels of a certain immunoglobulin in the blood serum. [1] The name of the disorder refers to an excess of proteins after serum protein electrophoresis (found in the gammaglobulin region). [citation needed]
There are five varieties of immunoglobulins, indicated by the suffices -A, -D, -E, -G and -M. [34] In the aggregate, the immunoglobulin level may be elevated with the disease, but the majority of such increased antibodies are of a monoclonal variety due to the clonal plasma cell and are thus ineffective.