Mutation in the C receptor of Interleukin 17, as a cause of Chronic Mucocutaneous Candidiasis

Abstract

Background: The humoral and cellular immunity plays a preponderant role in the etiopathogenesis of esophagitis, for which the majority of the patients who present this pathology will have some type of immune system. Methods & Materials: Patient of 36 years of age, family history of Hiper IgE syndrome, consulted for abdominal pain, enterorrhagia, weight loss, dysphagia and vomiting. The physical examination shows important muguet. Regarding to personal history, it is recognized that thepatients episodes of candidiasis esophagitis from the age of 6 years and cutaneous plasmocytoma located in the wing of the nose that required surgical extirpation. Results: In endoscopic exploration, the esophagus appears hyperemic, with yellowish mucous plaques that adhere firmly, with rough and friable underlying surface after removal. Pathological anatomy informs esophagitis, with presence of yeasts compatible with Candida on the mucosal surface. In the stomach, the lamina propria presents edema with lymphocyte hypercellularity. Microbiology: Candida albicans. The patients begins treatment with Fluconazole. Laboratory: HIV negative Elisa, non-reactive HBsAg, non-reactive HCV antibodies. IgG 1727 mg/dl, IgA 271 mg/dl, IgM 154 mg/dl, IgE 172 mg/dl. CD3 2123 (76.8%), CD4 1024 (46.6%), CD8 674 (24.4%), CD19 498 (15.8%). A molecular biology study was carried out in search of mutations in the AIRE gene, sequencing of exons and adjacent intronic sequences, showing no alterations compatible with mutation. The mutation of this gene is linked to several autoimmune diseases, such as hypoparathyroidism, primary adrenocortical failure and chronic mucocutaneous candidiasis. In a new molecular study, it shows mutation in the C IL 17 receptor (IL17RC). This interleukin is related in the antifungal defense. Conclusion: Interleukin 17 participates in the development of autoimmunity, inflammation and tumor immunity, playing an important role in the defense against bacterial and fungal infections. The blocking of IL-17 signaling due to the mutation of its receptor prevents the formation of germinal centers and reduces the humoral response. The discovery of this mutation is a rarity, and plays an important role in defense against infectious diseases. In this clinical case, this mutation predisposes to the recurrence of chronic mucocutaneous candidiasis.