X-linked agammaglobulinemia laboratory findings
|
X-linked agammaglobulinemia Microchapters |
|
Differentiating X-linked agammaglobulinemia from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
X-linked agammaglobulinemia laboratory findings On the Web |
|
American Roentgen Ray Society Images of X-linked agammaglobulinemia laboratory findings |
|
Directions to Hospitals Treating X-linked agammaglobulinemia |
|
Risk calculators and risk factors for X-linked agammaglobulinemia laboratory findings |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Laboratory Findings
XLA diagnosis usually begins due to a history of recurrent infections, mostly in the respiratory tract, through childhood. The diagnosis is probable when blood tests show the complete lack of circulating B cells (determined by the B cell marker CD19 and/or CD20), as well as low levels of all antibody classes, including IgG, IgA, IgM, IgE and IgD.
When XLA is suspected, it is possible to do a Western blot test to determine whether the Btk protein is being expressed. Results of a genetic blood test confirm the diagnosis and will identify the specific Btk mutation,[1] however its cost prohibits its use in routine screening for all pregnancies. Women with an XLA patient in their family should seek genetic counseling before pregnancy.