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APDS is an inherited genetic condition. Symptoms of APDS can vary, even within families carrying the same genetic condition.

Diagnosing APDS

Take action for your health

An accurate diagnosis of APDS can be a relief for people who have been misdiagnosed 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 about getting a no-charge genetic test.

If you are diagnosed with APDS, there’s a good chance that other family members may have it as well, even if they don’t seem to have any symptoms. Talk to your doctor about no-charge genetic testing for family members of people with APDS.

Diagnosing APDS

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

Genetic testing is the only
way to diagnose APDS.

Steps to Diagnose APDS

Diagnosing APDS Patient Diagram

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)
  • 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)

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.

Speak to your doctor about getting a genetic test.

Differential diagnosis According to Dr Nicholas Hartog, "People with APDS may have multiple complications though lack of unified diagnosis".

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 be misguided with 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.

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)
  • 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)

Differential diagnosis According to Dr Nicholas Hartog, "People with APDS may have multiple complications though lack of unified diagnosis".

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 be misguided with 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.

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.

Speak to your doctor about getting a genetic test.

Genetic Testing for Family Members

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

Cover of APDS information download

Talk with Your Doctor

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

The brochure includes the signs and symptoms of APDS, how to test for APDS, and current management and treatment options.

Videos to Watch

A Doctor’s Perspective

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

The APDS Diagnosis Journey

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

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