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Immunodeficiency with hyper IgM type 2 is caused by a mutation in the Activation-Induced Cytidine Deaminase gene, which is located on the short arm of chromosome 12.. The protein that is encoded by this gene is called Activation-Induced Cytidine Deaminase (AICDA) and functions as a DNA-editing deaminase that induces somatic hypermutation, class switch recombination, and immunoglobulin gene ...
Interestingly, some affected people will exhibit these elevated IgM and lymphoplasmacytic cell levels but display no symptoms of the disease; in these people, the illness is typically discovered by fluke after a blood test that was performed for an entirely different medical reason.
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.
Hyper IgM syndromes is a group of primary immune deficiency disorders characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation. Immunoglobulin (Ig) class switch recombination deficiencies are characterized by elevated serum IgM levels and a considerable deficiency in ...
Immunoglobulin M (IgM) is the largest of several isotypes of antibodies (also known as immunoglobulin) that are produced by vertebrates.IgM is the first antibody to appear in the response to initial exposure to an antigen; [1] [2] causing it to also be called an acute phase antibody.
Immunodeficiency with hyperimmunoglobulin M is a rare disorder characterized by recurrent infections, low or absent IgG, IgE, and IgA levels, and normal or elevated levels of IgM and IgD. [ 2 ] : 84
Subsequent infections will demonstrate similar patterns, with initial IgM peaks and significantly stronger IgG peaks, with the IgG peak occurring more rapidly during subsequent infections. [3] Thus an elevated IgM titre indicates recent primary infection or acute reinfection, while the presence of IgG suggests past infection or immunization.
Monoclonal gammopathy, also known as paraproteinemia, is the presence of excessive amounts of myeloma protein or monoclonal gamma globulin in the blood.It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma.