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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.
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
More severe symptoms occur after the disease progresses and there is much more damage to the myelin sheaths in the peripheral nervous system. These can present as debilitating tremors that prevent patients from doing normal tasks, complete sensory loss on limbs, and, in some cases, extensive muscle atrophy .
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 ...
Furthermore, autoimmune endocrinological (insulin-dependent diabetes, autoimmune thyroiditis), gastrointestinal (anemia, autoimmune enteropathy), dermatological (psoriasis, vitiligo) and rheumatological disorders were described in CVID too. [8] The reason for such a high prevalence of autoimmunity in CVID individuals is not fully understood.
Symptoms including blurring or loss of vision, headache, and (rarely) stroke or coma are due to the effects of the IgM paraprotein, which may cause autoimmune phenomena or cryoglobulinemia. Other symptoms of Waldenström macroglobulinemia are due to hyperviscosity syndrome, which is present in 6–20% of patients.
Unbeknownst to me at the time, I was given a tentative diagnosis of Hashimoto’s disease. Knowing something was going on with my thyroid, my mom then took me to a pediatric endocrinologist.
Cold agglutinin disease (CAD) is a rare autoimmune disease characterized by the presence of high concentrations of circulating cold sensitive antibodies, usually IgM and autoantibodies that are also active at temperatures below 30 °C (86 °F), [1] directed against red blood cells, causing them to agglutinate and undergo lysis. [2]