Severe Periodontitis in adults with Chronic Granulomatous Disease

Chronic Granulomatous Disease (CGD) is an inborn error of immunity characterized by an alteration in the
function of the NADPH oxidase complex. The genes associated with this disease are mainly CYBB (X-linked
recessive inheritance), NCF1 and NCF2 (genes transmitted by autosomal recessive inheritance). Patients with
CGD present with severe and recurrent infections, with different inflammatory manifestations throughout their
lives. In periodontal disease patients present chronic inflammation in the mucosal tissue surrounding the
dentition, affecting the function of myeloid cells, particularly neutrophils. The present study aims to describe
the relationship between periodontitis and CGD. To our knowledge this association has not been previously

This is an observational descriptive investigation, in which four patients with CGD and severe periodontitis, with
loss of multiple teeth in adulthood, were studied.

It was observed that three of the four patients studied were females between 30 and 50 years old, and one
male aged 57 years. Two of these patients had autosomal recessive inheritance (NCF1 and NCF2) and two had
X-linked inheritance. All patients with at least one hospitalization for complicated infection. Three of the patients
had abscesses that required hospitalization and poor adherence to prophylactic antimicrobial treatment. All
patients reported the onset of dental symptoms (gingivitis, bleeding and oral ulcers) during childhood and
The oldest patient presented greater dental loss compared to the youngest patient who had the least. This
indicates a progressive evolution.
In all patients edentulism has affected their quality of life, particularly in digestion, phonation and mood.

Chronic inflammation affecting the gingiva in all four patients progressed to periodontitis, resulting in
irreversible tooth loss. It is necessary to identify the presence of periodontitis in patients with CGD in order to
propose new inflammatory therapies.

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