Deficiencies in antibody production can be due to a variety of underlying genetic defects
Name two immunodeficiency diseases, other than the severe combined immunodeficiencies, in which a defect in antibody production is the cause of the disease, and for which the underlying genetic defect is known. For each disease, say (i) how antibody production is affected, and (ii) what the underlying defect is and why it has this effect.
What will be an ideal response?
1. X-linked agammaglobulinemia. (i) No antibody at all. (ii) It is caused by a defect in the tyrosine kinase Btk, which is necessary for B-cell development and is encoded on the X chromosome. No mature B cells develop. 2. X-linked hyper IgM syndrome. (i) Large amounts of IgM antibody, but no antibodies of isotypes other than IgM, are produced. Virtually no antibodies are made against T-cell dependent antigens. (ii) It is caused by a defect in the protein CD40 ligand, which is encoded on the X chromosome and is expressed on T cells. T cells lacking CD40 ligand cannot give help to B cells, which thus cannot respond to most protein antigens and cannot switch isotype.
Other diseases in which defects in antibodies seem to be the main deficiency are common variable immunodeficiency (defective antibody production; cause unknown) and selective IgA and/or IgG deficiency (no IgA or IgG synthesis; cause unknown).
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