immunology allergic disorders
X linked Agammaglobulinemia
Diagnosis of X linked Agammaglobulinemia
Low immunoglobulin levels and absent B cells Genetic testing Diagnosis of X-linked agammaglobulinemia is by detecting low (at least 2 standard deviations below the mean) levels of immunoglobulins (IgG, IgA, IgM) and absent B cells (<1% of all lymphocytes are CD19+cells, detected by flow cytometry). Transient neutropenia may also be present. Genetic testing can be used to confirm a diagnosis but is not required. Genetic testing is usually recommended for 1st-degree relatives. If the mutation has been identified in family members, mutational analysis of Chorionic Villus Sampling , 