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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 ...
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.
IgM is the first immunoglobulin expressed in the human fetus (around 20 weeks) [46] and phylogenetically the earliest antibody to develop. [47] IgM antibodies appear early in the course of an infection and usually reappear, to a lesser extent, after further exposure. IgM antibodies do not pass across the human placenta (only isotype IgG). [48]
Blood tests show the level of IgM in the blood and the presence of proteins, or tumor markers, that are the key signs of Waldenström macroglobulinemia. A bone marrow biopsy provides a sample of bone marrow, usually from the lower back of the pelvis bone. The sample is extracted through a needle and examined under a microscope.
Acid–base and blood gases are among the few blood constituents that exhibit substantial difference between arterial and venous values. [6] Still, pH, bicarbonate and base excess show a high level of inter-method reliability between arterial and venous tests, so arterial and venous values are roughly equivalent for these. [44]
Serum protein electrophoresis showing a paraprotein (spike/peak in the gamma zone) in a patient with multiple myeloma.. A myeloma protein is an abnormal antibody (immunoglobulin) or (more often) a fragment thereof, such as an immunoglobulin light chain, that is produced in excess by an abnormal monoclonal proliferation of plasma cells, typically in multiple myeloma or Monoclonal gammopathy of ...
The direct Coombs test is used to detect antibodies or complement proteins attached to the surface of red blood cells. To perform the test, a blood sample is taken and the red blood cells are washed (removing the patient's plasma and unbound antibodies from the red blood cells) and then incubated with anti-human globulin ("Coombs reagent").
Serum protein electrophoresis (SPEP or SPE) is a laboratory test that examines specific proteins in the blood called globulins. [1] The most common indications for a serum protein electrophoresis test are to diagnose or monitor multiple myeloma , a monoclonal gammopathy of uncertain significance (MGUS), or further investigate a discrepancy ...