Hello, my name is Smita Patel and I'm a clinical immunologist working
at the Oxford University Hospitals, NHS Foundation Trust.
I'm going to be talking about primary immunodeficiency disorders.
The learning objectives for this lecture are to gain
understanding of primary immune deficiencies and how they are classified,
to recognize how primary immune deficiencies present and relate
that presentation to the function and pathogenesis of the disease,
to understand how we investigate patients and undertake treatment.
I will cover specific conditions which may be
encountered within the setting of internal medicine.
The primary immunodeficiency disorders are a heterogeneous group of
disorders characterized by poor or absent function of the immune system,
this predisposes affected individuals to infections,
autoimmunity, inflammation, atopy, and malignancy.
There are almost 400 genetically defined primary immune deficiencies,
and understanding how the infections relate to the development and function
of the immune system is key to further investigation and hence treatment.
It may be, because primary immune deficiencies are rare,
that there is often a delay in diagnosis,
but there are conditions which will be seen by general physicians and it's
important to at least consider primary immune deficiency in the differential diagnosis.
Forms of antibody deficiency are the most common form of
primary immune deficiency and may present in adults,
however, most present in childhood,
and therefore, a complete history is crucial.