US Health Professionals

Diagnosing APDS

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An accurate diagnosis of APDS can be a relief for people who may have been previously diagnosed or undiagnosed for years, and even for those who are diagnosed earlier in infancy or childhood. With the correct diagnosis, more appropriate treatments can be started.

If you think you may have APDS, particularly if you suffer from two or more of the symptoms outlined on the APDS Symptoms page, talk with your doctor to see if you are eligible for a sponsored genetic test.

APDS is an inherited genetic condition. If you are diagnosed with APDS, there’s a good chance that other family members may also have APDS, even if they don’t seem to have any symptoms, or have different symptoms from you. Talk to your doctor to see if other members of your family are eligible for a sponsored genetic test.

What To Look For

Symptoms combined with blood tests that identify changes in B and T cells should prompt suspicion of a primary immunodeficiency, such as APDS.

APDS can be definitively diagnosed by a genetic test.

Steps to Diagnose APDS

1

Recognize The Symptoms

People with APDS usually present with at least two of the below symptoms:

  • Onset of symptoms under 12 years of age
  • Frequent and severe ear, sinus, and respiratory tract infections (>2 events within 3 years of each other)
  • Bronchiectasis
  • Enlarged lymph nodes
  • Enlarged spleen
  • Severe, chronic, or frequent herpes infections
  • Low numbers of blood cells (cytopenia)
  • Gastrointestinal (digestive) issues
  • Lymphoma (cancer of the immune system)
Lymphoma under the age of 26 years should raise suspicion of APDS.
2

Differentiating Conditions With Similar Features

Some individuals may be misdiagnosed with other primary immunodeficiencies such as Common Variable Immune Deficiency (CVID) or Hyper IgM syndromes.

Individuals whose main symptoms are low levels of blood cells, swollen lymph nodes, an enlarged spleen or liver, or lymphoma, may get a diagnosis of blood disorders such as Autoimmune Lymphoproliferative Syndrome (ALPS). These patients may be treated by doctors who do not suspect an underlying primary immunodeficiency, further delaying diagnosis.

3

Ask Your Doctor For A Genetic Test

Symptoms combined with blood tests that identify changes in B and T cells should prompt suspicion of a primary immunodeficiency like APDS.

Genetic Testing for Family Members

It is recommended that all family members of people who have been positively diagnosed with APDS also be tested.

Talk With Your Doctor

APDS is rare and not all doctors will have cared for someone with this condition. Download our two-page All about APDS Quick Guide and share with your doctor.

The brochure includes the signs and symptoms of APDS, how to test for APDS, and how your APDS may be managed.

Videos To Watch

Dr Hartog talks about the genetics behind APDS and how it’s diagnosed.

Dr Eveline Wu talks through the patient journey to a diagnosis.

Learn how APDS affects the body.

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