Immunodeficiency is defined as a state in which the immune system’s ability to fight infectious disease is compromised or entirely absent
Primary Immunodeficiency (PID)
Primary immunodeficiencies are a series of over 350 disorders caused by genetic alterations that affect cells of the immune system. Some PIDs become apparent in childhood whilst others may not develop until adulthood. PIDs are often chronic but can be treated once diagnosed.1 PIDs are classified into major groups according to the predominant immune mechanism that is defective. The most common PIDs are those with defects in antibody production.3
Potential warning signs of Primary Immunodeficiency:
Severe, Persistent, Unusual or Recurrent infections (SPUR)
Infections requiring prolonged or intravenous antibiotic therapy
Unexplained failure of an infant to thrive
A family history of known immunodeficiency or recurrent Infections
Prognosis of Primary Immunodeficiency:
Long-term prognosis of PID is variable depending on the specific type of immunodeficiency.4 It can also depend on a number of common factors, many of which are related to time between first onset of symptoms and final diagnosis. These include:
Age of the patient at diagnosis
Age of the patient when they receive definitive treatment
Presence of infections and non-infectious complications
Other co-morbidities
Benefits of early diagnosis of Immunodeficiency:
Improved patient health, quality of life and overall lifespan
De Vries E. Patient-centred screening for primary immunodeficiency, a multistage diagnostic protocol designed for non-immunologists: 2011 update. Clin ExpImmunol 2012; 167:108-119
Bonilla FA, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol 2915; 136:1186-1205
Bousfiha AA, et al. Primary Immunodeficiency Diseases Worldwide: More Common than Generally Thought. J Clin Immunol 2012; 33:1-7
Raje, N and Dinakar, C. Overview of Immunodeficiency Disorders. Immunol Allergy Clin North Am. 2015 Nov; 35(4): 599–623.