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Review
. 2020 Jun 18:11:1065.
doi: 10.3389/fimmu.2020.01065. eCollection 2020.

Primary Immunodeficiencies With Defects in Innate Immunity: Focus on Orofacial Manifestations

Sophie Jung  1   2   3 , Vincent Gies  3   4   5 , Anne-Sophie Korganow  3   5   6 , Aurélien Guffroy  3   5   6
Affiliations
Review

Primary Immunodeficiencies With Defects in Innate Immunity: Focus on Orofacial Manifestations

Sophie Jung et al. Front Immunol. .

Abstract

The field of primary immunodeficiencies (PIDs) is rapidly evolving. Indeed, the number of described diseases is constantly increasing thanks to the rapid identification of novel genetic defects by next-generation sequencing. PIDs are now rather referred to as "inborn errors of immunity" due to the association between a wide range of immune dysregulation-related clinical features and the "prototypic" increased infection susceptibility. The phenotypic spectrum of PIDs is therefore very large and includes several orofacial features. However, the latter are often overshadowed by severe systemic manifestations and remain underdiagnosed. Patients with impaired innate immunity are predisposed to a variety of oral manifestations including oral infections (e.g., candidiasis, herpes gingivostomatitis), aphthous ulcers, and severe periodontal diseases. Although less frequently, they can also show orofacial developmental abnormalities. Oral lesions can even represent the main clinical manifestation of some PIDs or be inaugural, being therefore one of the first features indicating the existence of an underlying immune defect. The aim of this review is to describe the orofacial features associated with the different PIDs of innate immunity based on the new 2019 classification from the International Union of Immunological Societies (IUIS) expert committee. This review highlights the important role played by the dentist, in close collaboration with the multidisciplinary medical team, in the management and the diagnostic of these conditions.

Keywords: inborn errors of immunity; innate immunity; oral management; orofacial manifestations; primary immunodeficiencies.

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Figures

Figure 1
Figure 1
Clinical and radiological oral phenotype of two sisters with PLS syndrome (D[4]/Phenodent database (www.phenodent.org), Reference Center for Oral and Dental Rare Diseases, University Hospital, Strasbourg). (A,B) Premature tooth loss of the primary teeth in the 6-year-old patient. (A) Panoramic radiograph showing alveolar bone loss around the teeth, in particular at the mesial aspect of right permanent mandibular and maxillary first molars. (B) Intra-oral view showing the absence of all primary teeth. Absence of inflammation in the edentulous areas but presence of gingival inflammation around the erupting permanent maxillary first molars despite the perfect control of dental plaque. (C) Several periodontitis in the 16-year-old patient. Panoramic radiograph showing generalized severe vertical alveolar bone loss around all permanent teeth: typical radiological aspect of “floating” teeth.
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