BIOL 4241 Lecture Notes - Lecture 10: Selective Immunoglobulin A Deficiency, Metabolic Waste, Antibody
Document Summary
Defined as the absence of components of a functional immune system: genetically inherited (look at picture, cannot eliminate pathogens, leads from diarrhea to persistent and recurrent infections, failure to thrive, developmental delays, life threatening infections. Affects 1 in 1000 newborn children (fairly common!: maybe 1 in 500. Generally caused by rare or de novo mutations (many are not identified) First noted if patient has chronic infections (some screening for pid happens now too) 2 steps: see that the lymphocyte count is low, test to see if antibodies and t cell receptors are functioning to determine type. Mild pid: loss of small amounts of immune function in one or few areas, treated by replacement with those cells/antibodies that are missing. Severe combine immune deficiency (skid: near or complete absence of lymphocyte function, bone marrow transplant (does not always work, bubble boy. Book discusses one cause of scid that is well defined.