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-Diverse Immunoglobulin gene deficiencies exist.
-complete deficiency in immunoglobulins
X-Linked agammaglobulinemia. Absence of gamma-globulins
-specific Ig chain deficiencies, you will see a selective set of susceptibility to a certain set of microorganisms.
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X-linked-hyperimmunoglibulin M, an excess of IgM production. Seen mostly in males.
-Ig Sub-class deficiencies- remember the gamma globulins have 3 of 4 subclasses. It is clinically not difficult to recognize that a child who comes repeatedly for inner ear infection with the same microorganism, you should look into it being a selective Ig deficiency. Inner ear infection has proven to be a genetic susceptibility.
-T Cell and B cell numbers can be modified or impaired as a result of mutation. There will be a diverse set of phenotypes.
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-T-cell receptor signal transduction deficiency.
-failure in antigen presentation by the T cells
Bear lymphocyte syndrome -mutations in metabolic genes ie: Adenosine deaminase (imp enzyme in DNA metabolism) can have a consequence of impaired B-Cell function.
Category:
Antibody
,
Biology
,
Cell Biology
,
DNA
,
Gene
,
Immunoglobulin M
,
Medical Subject Notes
,
Metabolism
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Signal transduction
,
T cell
,
T cell receptor
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