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Absent B cells with a resultant severe reduction of all types of antibody: X-linked agammaglobulinemia (btk deficiency, or Bruton's agammaglobulinemia), μ-Heavy chain deficiency, l 5 deficiency, Igα deficiency, BLNK deficiency, thymoma with immunodeficiency; B cells low but present, but with reduction in 2 or more isotypes (usually IgG & IgA ...
The precise symptoms of a primary immunodeficiency depend on the type of defect. Generally, the symptoms and signs that lead to the diagnosis of an immunodeficiency include recurrent or persistent infections or developmental delay as a result of infection. Particular organ problems (e.g. diseases involving the skin, heart, facial development ...
A deficiency of it leads to buildup of elevated deoxy-GTP (dGTP) levels resulting in T-cell toxicity and deficiency. [4] [7] In contrast to adenosine deaminase deficiency (another deficiency of purine metabolism), there is minimal disruption to B cells. [8] PNP deficiency is inherited in an autosomal recessive manner. [1]
Normal numbers of B cells with isotype or light chain deficiencies: heavy chain deletions, kappa chain deficiency, isolated IgG subclass deficiency, IgA with IgG subclass deficiency, selective immunoglobulin A deficiency; Specific antibody deficiency to specific antigens with normal B cell and normal Ig concentrations
Humoral immune deficiency (including B cell deficiency or dysfunction), with signs or symptoms depending on the cause, but generally include signs of hypogammaglobulinemia (decrease of one or more types of antibodies) with presentations including repeated mild respiratory infections, and/or agammaglobulinemia (lack of all or most antibody production) which results in frequent severe infections ...
Nuclear factor-kappa B Essential Modulator (NEMO) deficiency syndrome is a rare type of primary immunodeficiency disease that has a highly variable set of symptoms and prognoses. It mainly affects the skin and immune system but has the potential to affect all parts of the body, including the lungs, urinary tract and gastrointestinal tract. [1]
Serious, potentially fatal illnesses could arise from several of these bacterial diseases. Isolated primary immunoglobulin M deficiency can manifest clinically as recurrent otitis media, bronchiectasis, chronic sinusitis, bronchitis, urinary tract infections, respiratory infections, cellulitis, meningitis, and sepsis. [7]
Hyper-IgM syndrome type 1 (X-linked), characterized by mutations of the CD40LG gene. In this type, lack of CD40L on the surfaces of T cells results in defective signaling to B cells, which do not receive the needed signal to undergo isotype switching. Therefore, the only antibody secreted by the B cell is IgM, the least specific class of ...