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Diagnosis of primary immunodeficiency disease is often complex

From April 22 to 29, World Primary Immunodeficiency Week is commemorated.

 

 

Children and adults who fall ill with recurrent, unusual, or more severe infections may suffer from an undiagnosed underlying primary immunodeficiency (PID) disease.

This is according to Professor André van Niekerk, paediatric pulmonologist and vice chairman of the Allergy Society of South Africa, who adds that these conditions often go underdiagnosed and underreported.

The Allergy Society of South Africa (ALLSA) https://www.allergysa.co.za and the Allergy and Clinical Immunology Foundation of South Africa (AFSA) www.allergyfoundation.co.za supports an effort by several international organisations to raise awareness on PID’s during World PID week.

According to van Niekerk, there are more than 350 known PIDs.

“They result from an immune system that is partly or totally dysfunctional due to changes in the genes that program the development and function of the immune system.

“In addition to infections, patients may also suffer from associated immune-related conditions like allergies, auto-immune diseases, autoinflammatory diseases, and cancer.

“The early detection of PIDs play an important role in how effectively they are managed. An early diagnosis will improve the quality of life, prevent complications and even be life-sparing in some cases.

“Some of these conditions are evident in early life while others only manifest in adulthood.”

He said the reason that these conditions are often underdiagnosed is because young children generally suffer from infections more frequently, and infections are then often perceived as ‘normal’ occurrences.

  • Diagnosis

According to van Niekerk, the diagnosis is also often complex.

“We should become suspicious of an underlying PID when infections are more cumbersome.

“We can sum it up with the acronym ‘SPUR’. The ‘s’ is for severe: when infections turn out more complicated than expected; the ‘p’ for persistence:  when infections last longer than expected; the ‘u’ for unusual: when the micro-organisms involved should not normally cause an infection in immune competent people; and the ‘r’ for recurrence: when infections just occur too frequently.”

He said in addition to ‘SPUR’, other associated findings, like a family history of PID, growth faltering, infections involving different parts of the body, complications after the administration of live vaccines etc. should also warn the doctor of a possible underlying PID.

Van Niekerk states that PID’s can be managed with different forms of treatment: ‘Certain types can be cured, others can be managed with the right interventions. But, the success of the treatment will always depend on how early the condition is detected.’

 

 

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Riaan Engelbrecht

Chief Sub Editor at Caxton Media

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