What is an Inborn Errors of Immunity (IEI) ?
Inborn errors of immunitty are rare genetic mutations (estimated at 1/1000 to 1/10,000 of births) that increase the susceptibility of sufferers to infectious diseases, autoinflammatory and autoimmune diseases, and allergies. They include primary immunodeficiencies in which components of the immune system are absent or malfunction. The famous bubble children who must be kept in a sterile environment, for example, have a primary immunodeficiency. Not all primary immunodeficiencies begin in childhood. Common variable immunodeficiency (CVID), for example, can appear in adulthood.
What is the link with allergic diseases ?
It has long been observed that immunocompromised patients often also have allergic manifestations, and that these allergic diseases are sometimes the first clinical manifestation of their disease, which can cause a delay in diagnosis or a misdiagnosis. This can have serious consequences if the patient ends up with an infection they can't fight off, because not being diagnosed means they won't get the more aggressive therapy they need if they have an infection.
Measuring the impact of allergic manifestion on the diagnosis of IEI
In order to know the impact of these manifestations on patients with DIC, the World Allergy Organization conducted a study among 61 immunology centers that treat children and adults with IEI. The study demonstrated that on average 16.3% of patients with IEI suffer from an allergic disease (including atopic dermatitis and chronic urticaria) and had an impact on the diagnosis in 7.5% of cases. The study mentions, for example, the case of a 10-year-old girl who developed chronic refractory urticaria following repeated pneumonia since the age of 5, and who was finally diagnosed with IEI in her late adolescence.
Conclusions
Allergic diseases like chronic urticaria and atopic dermatitis can be the first manifestation of congenital immune deficiency, which can lead to delayed diagnosis. This can have a significant impact on morbidity and mortality, as well as the potential adverse effects of treatments for allergic diseases, which may be immunosuppressants. A patient with a family history of IEI or recurrent infections should be referred to a center specializing in immunology.