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APDS is difficult to diagnose due to its varied clinical manifestations within multiple organ systems.1
APDS can be inherited in an autosomal dominant pattern, meaning that a person can inherit a variant gene from only one parent for the disease to manifest.3 Children born to a parent with variants in either one of two genes encoding phosphoinositide 3-kinase delta (PI3Kδ) will have a 50% chance of inheriting APDS.4
While almost 40% of patients have a family history of IEIs,4 APDS can also present spontaneously with neither parent being a carrier of the genetic variants which cause the disease.5
Not all patients with APDS look the same – signs and symptoms can vary, even among affected family members.6
People with APDS usually experience the following clinical features (n≤243):1,4,7,8,10
Due to diagnostic challenges, APDS frequently follows a pattern of multiple referrals, with some patients seeing several different specialists over an average of seven years, before a diagnosis is confirmed.4
Laboratory tests for people with suspected APDS or PIDs:1,3,4,7,10
Laboratory test | Typical observation in suspected patients |
Complete blood count with differential |
Depending on the individual presentation, several values may or may not be outside the normal range, for example: |
Immunoglobulin levels |
• Low to normal concentrations of IgG and IgA |
Vaccine challenge |
• Many patients have a reduced response |
Flow cytometry |
T and B cell phenotypes are often altered. Distinguishing findings may include: |
Early diagnosis of APDS is crucial to help prevent disease progression, organ damage and early mortality.6