While various primary immunodeficiency (PID) types exist, they often share common symptoms. Individuals with PIDs frequently experience prolonged and severe infections, including unusual ones.

Beyond infectious complications, PIDs can manifest in non-infectious ways such as autoimmunity, inflammatory disorders, fevers, swollen joints, rashes, bowel issues, angioedema, and occasionally cancers like lymphomas.

Recognizing these diverse presentations is crucial. So with the help of the SPURR tool, it aids in PID suspicion when individuals have Severe, Persistent, Unusual, Recurrent infections, along with a Running Familial history of PID. Understanding the broad spectrum of PID symptoms and using tools like SPURR enhances early detection and timely intervention.

Ten Warning Signs of PID

Initially promoted as a general screening tool for the public and practitioners, these criteria aimed to enhance PID diagnosis rates. However, UK doctors are now reassessing their utility due to advancements in understanding PIDs and their clinical presentation. Any new recommendations resulting from this evaluation will be shared by Immunodeficiency UK once a consensus is reached.

Main Indicators of PID:

  1. Failure of a baby or child to gain weight or grow normally (failure to thrive) – there are many reasons for failing to thrive, and PIDs are a rare but important cause.
  2. The need for intravenous (IV) antibiotics to treat infections – the use of IV antibiotics indicates a serious infection, and infants, children, and adults should be considered for PID.
  3. A history of a PID in the family – family members should at least have a primary screen (full blood count and serum immunoglobulins).
  4. Four or more new ear infections within one year.
  5. Two or more new sinus infections within one year.
  6. Two or more months on at least two antibiotics at a stretch with little effect.
  7. Two or more cases of pneumonia within three years.
  8. Having frequent deep skin or organ abscesses.
  9. Persistent thrush or fungal infection (more than six months) on the skin or elsewhere.
  10. Two or more deep-seated infections, including septicemia (blood poisoning), within three years.

The presence of two or more warning signs may suggest an underlying PID. If you or your child exhibits these symptoms, it is crucial to consult with your doctor, who may refer you to a specialist, such as an immunologist.

Pediatricians often identify the majority of PIDs in children. Three specific warning signs are estimated to identify approximately 90% of PIDs, and these are:

  • Family history
  • Requirement for IV antibiotics in the management of infections
  • Failure to thrive

Diagnosing PIDs

The timelier the diagnosis of a primary immunodeficiency disorder (PID), the greater the chance of minimizing damage and successfully treating the condition. However, healthcare providers may lack familiarity with the characteristic signs, leading to significant diagnostic delays, which on average exceed four years and can stretch to almost a decade in milder cases.

Accurate PID diagnoses face additional challenges, especially since the primary symptom, a series of infections, is easily attributed to common illnesses, particularly in children who frequently experience infections even when deemed ‘healthy.’

Adult patients exhibiting signs of a PID encounter other factors contributing to diagnostic delays. While severe cases are typically diagnosed in childhood, milder forms may not manifest symptoms until later in life. Furthermore, health professionals might overlook the pattern and frequency of infections crucial for a prompt and accurate diagnosis. For instance, upper and lower respiratory tract infections often get attributed to alternative causes, adding complexity to the identification process. Raising awareness among healthcare professionals about PID signs is crucial to reducing diagnostic delays and improving outcomes for individuals affected by these disorders.

How Important is Your Family History?

When a doctor suspects the possibility of a PID, they will first review your medical and family histories, seeking patterns indicative of a PID diagnosis. Subsequently, simple blood tests, such as a full blood count (FBC), and measurement of immunoglobulin levels will be conducted. If the suspicion of a PID persists, more sophisticated tests will be employed to diagnose the specific type of PID involved.

How to Help People with PID?

Why has this disease developed in me or my family members? Is there a possibility of an underlying immunodeficiency?

Often, modern medicine prioritizes addressing immediate medical issues, aiming to restore health and daily routines without delving into potential underlying problems. The crucial question of ‘Why me?’ is frequently overlooked. Doctors are increasingly discovering that serious or unusual infections, auto-inflammatory diseases, and some cancers in patients, especially children and young adults, may have an underlying genetic cause, including an immunodeficiency disease. Posing the question ‘Why me?’ prompts doctors to consider the possibility of an underlying primary immunodeficiency, a critical step in the diagnostic process. The subsequent actions might involve reassuring you, consulting a specialist with expertise in this area, or conducting a simple blood test – all worthwhile considerations.

Is it possible that another family member has the same PID?

While most PIDs occur spontaneously, some are hereditary. If one family member is affected, it is crucial to consider the disease in all others, especially siblings. It becomes your responsibility to discuss with your doctor the feasibility of screening siblings and other family members, particularly newborns, to prevent unnecessary illness or death. This is the most impactful action you can take for your family, aiding in the prompt diagnosis of a PID. Reflect on it, and inquire with your general practitioner, obstetrician, or pediatrician, especially after a baby is born.

Inform your doctor and nurses about the available resources that can aid in diagnosing a PID.

Request your doctor and attending nurses to review the IPOPI booklet “Diagnosis of PID,” specifically crafted to aid non-specialists in investigating potential PIDs.

If needed, your doctor can seek specialist advice or referrals through local channels. In cases of uncertainty regarding service locations, your doctor can utilize the ‘Find a clinical immunologist’ feature in the Resources section of the British Society for Immunology website, available here.

Reviewed by Dr. Matthew Buckland, Chair of Immunodeficiency UK’s Medical Advisory Panel, in July 2019.