vi medicine informatics




Bruton X-linked agammaglobulinemia »bacterial pneumonia (eg, fever, tachypnea, wheezing, flared nostrils, belly breathing, blue-gray discoloration of the lips, and decreased activity, underdeveloped tonsils and history of recurrent infections, suggestive of a defect in the humoral (antibody-mediated) immune response. X-linked; caused by a defect in tyrosine kinase signaling. The BTK gene is mutated & normally encodes a tyrosine kinase receptor. PT is unable to mediate B-cell expansion and progression in cell development. B cells are arrested at the pre-B-cell stage so that they cannot produce immunoglobulins. IgG, IgM & IgA decreased.

tags: oneliner