What is Primary Immunodeficiency?

Primary Immunodeficiency (PID) are hereditary and genetic defects oft he immune System that cause increased susceptibility to a wide range of infections, affecting the skin, ears, lungs, intestines and other parts oft he body. PID often presents itself in the form of otherwise ordinary infections, which do not respond to treatment. Too often infections are treated while missing the underlying cause, allowing the illnesses to recur, and leaving the patient vulnerable to vital organ damage, physical disability, and even death. PID may also predispose patients for allergies, autoimmunity and cancer.



Prevalence Current diagnosis levels suggest that 1 in 8-10.000 people have a severe primary immunodeficiency that significantly affects their health and life expectancy. However, experts estimate that between the general population could be as high as 1 in 250-500.



Early diagnosis is critical

From common infections and fevers to pneumonia and bronchitis, the symptoms of PID come n many different forms. Despite this challenge, diagnosis can be simple and inexpensive.


The principal clinical manifestation of immunodeficiency is increased susceptibility to infection. PID are often overlooked because they are thought to be e common infectious illnesses (e.g. sinus/ear infections, atypical febrile illness or bronchitis). If left undiagnosed or poorly treated, PID can have a devastating effect on the lives of patients and their families. Recurrent infections are frightening and frustrating and may cause permanent damage to vital organs, resulting in disability or death. Children miss time from school and sty while adult patients are forced to take time off work and may require care workers to look after them.


Early diagnosis and access to appropriate treatment enables people living with PID to lead normal productive lives whilst significantly reducing healthcare. lack of awareness of PID remains a major issue, and due to this problem the majority of patients are diagnosed too late.



Methods of detection

A careful history, physical examination and simple, inexpensive blood test known as CBC (Complete Blood Count) can identify the majority of patients. For precise diagnoses of PID, more advanced immunological and genetic tests are required and must e administered by an experienced specialist.


An immunologist can help with diagnosis, evaluation and treatment. For more information, or to find an immunologist in your area, pleas find the contact information on our homepage.


Importance of early detection and treatment

Accurate early diagnosis and proper treatment of PID may:


Ø  Prevent severe complications and tissue damage

Ø  Prevent chronic organ damage

Ø  Decreased morbidity and mortality

Ø  Avoid secondary costs due to illness

Ø  Dramatically improve quality of life.



Know the warning signs

A good first step in correctly diagnosing a PID is a simple assessment oft he 10 Warning Signs.


There are a number of signs and symptoms of a PID. Patients with PID have an increased suceptibility to recurrent and persisten infections, varying in severity form ear and sinus infections to lung infections, neningitis and septicaemia, amongst others. Less commonly, patients with PID may have abscesses in internal organs, lymph nodes or skin, or infections in their bloodstream.



Other indications

There are particular infections caused by germs that primarily afflict immunodeficient patients, in which case the infection-causing pathogen itself may serve as a warning sign for PID. Patients with PID may also have a variety of autoimmune disorders, rheumatologic diseases or gastrointestinal problems. In some cases these problems can result from an intestinal infection, in others, they may be a reflection of an autoimmune or inflammatory disorder.



Suggested laboratory investigations in case of recurrent bacterial infections

Ø  White blood cells with differential count (CBC-test)

Ø  Determination oft he number of lymphocyte subsets

Ø  Quantification to IgG, IgA, IgM, IgF

Ø  Documentation of infection proneness (patient diary)

Ø  Measurement of antibody responses to vaccine components



PID is treatable

Unlike with may other rare diseases, effective treatment options are available to allow may patients with PID to lead normal lives. None of these therapies, however, will reverse the damage of late diagnosis.


In undiagnosed or misdiagnosed patients, treatments are focused on the frequent and long-term use of antibiotics, Improved diagnosis of PID could therefore have a positive impact in reducing the use of antibiotics, minimizing future infections, improved use of health care facilities, reduced costs and an improvement in the patient’s quality of life.



A range of treatments are available

The first step in addressing PID ist to treat the current infection, which can be done using antivirals, antibiotics and antifungals. In order o prevent future infections, patients with antibody deficiency can be prescribed prophylactic antibody replacement therapy, in which the patient receives an infusion with antibodies – so-called immunoglobulins – extracted from human plasma. The therapy is ormally either infused intravenously or subcutaneously.


If treatment with immunoglobulins is instituted early and is individually tailored, antibody replacement therapy is effective in preventing infections and consequent damage due to repeated infections. Infection rates in people undergoing antibody replacement therapy are similar to infection rates oft he normal population, and scientific studies have shown significant improvements in patient-reported health and quality of life for patients with PID. Home therapy has been shown to further improve the quality of life of patients and their families.


More severe forms of PID may require bone marrow or stern cell transplantation, or even gene therapy, which aim at correcting the immunodeficiency thought reconstitution oft he normal immune system.