Agammaglobulinemia, x-linked

Diagnosis and Testing

How do I get tested for X-linked agammaglobulinemia?

It may be hard for a primary care physician to recognize X-linked agammaglobulinemia. Frequent symptoms such as ear or respiratory infections are common in childhood. If a boy has persistent middle ear or sinus infections or recurrent pneumonia before the age of 5, X-linked agammaglobulinemia should be considered. It should also be considered if he has severe bacterial infections. This is particularly true for children who also have small or absent tonsils and lymph nodes. If X-linked agammaglobulinemia is suspected, a doctor will order blood tests that can show low levels of antibodies, the specialized proteins that fight of bacteria, virus and other foreign substances in the body. More complex tests that can show a change in the BTK gene can also be ordered to confirm the diagnosis. A patient may be referred to a specialist such as an immunologist. A referral to a local genetics clinic or may also be made. A genetic professional can also be found on the Genetic Testing Registry Homepage.

Conley ME. X-linked Agammaglobulinemia. Orphanet website. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=47 Accessed May 16, 2016.

Fernandez J. Approach to the Patient With Suspected Immunodeficiency. Merck Manual Professional Version website. http://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/approach-to-the-patient-with-suspected-immunodeficiency Accessed May 16, 2016.

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