We need to detect primary immunodeficiency diseases early

Patients who suffer from bothersome infections may suffer from an underlying primary immunodeficiency disease (PID). There are more than 350 known PID’s. PID’s leave patients at risk to infections that occur too frequently, are more severe, take longer to recover or that come with more complications than expected. PID’s result from a variation in the genes that ‘program’ the functioning of the immune system and that leaves the immune system partially or totally unable to deal with infections.

PID’s are often undiagnosed and under-reported. Doctors previously believed that they are rare conditions and the diagnosis is often not considered. The diagnosis can also be complex. A history of other family members who also suffered from more frequent, more severe or more complicated infections may sound alarm bells but the genetic change that leads to a PID may often go undetected for generations or may result from a new mutation.

The early detection of a PID’s are important to improve the outcome for the patient. A lot can be done for PID’s now: more aggressive treatment during infections prevent complications; specific immune replacement therapy may ensure a normal and healthy life; some PID’s can be cured and promising advances are being made with very sophisticated new therapies. The correct diagnosis, and early intervention, offers an advantage to more successful treatment, avoiding complications and saves lives.

Young children usually suffer more frequently from infections than older children and adults. Their infection burden is further increased when they attend day-care centres. Doctors will often not consider a PID as repeated infections may be perceived as normal. The acronym ‘SPUR’ may be a good guide towards considering a PID: we should ‘think’ PID when infections are more severe (S); more persistent (P); caused by unusual microbes (U) or recurrent (R).

The alarm bells should ring loud when you or your child suffers from ‘SPUR-like’ infections. They should ring even louder when the infections are associated with further warning signs like a family history of PID, growth faltering, infections involving different parts of the body, complications after vaccination, frequent low blood lymphocyte counts, chronic muco-purulent secretions, frequent lethargy & absenteeism, in children with chronic skin rashes or syndromic features and other manifestations of immune related diseases like allergy and auto-immune disease.

The last week of April marks an international attempt to raise awareness on the PID diseases. Don’t delay in asking your doctor about the possibility of a PID disease.

After patients have been diagnosed, it is vital that you become a member of PiNSA (Primary Immunodeficiency Network of South Africa) the support group for PID in South Africa so that we can update our registry on PID.