Abstract

BELLUCO, Paulo Eduardo Silva; SIFUENTES, Bárbara Garcia; BELLUCO, Rosana Zabulon Feijó  and  REIS, Carmelia Matos Santiago. Rubistein-Taybi Syndrome associated with immunodeficiency and eosinophilic esophagitis: A case report. Rev Port Imunoalergologia [online]. 2022, vol.30, n.2, pp.131-136.  Epub June 30, 2022. ISSN 0871-9721.  https://doi.org/10.32932/rpia.2022.06.084.

Rubinstein-Taybi syndrome is a rare disorder characterized by craniofacial dysmorphisms, thumb and hallux alterations, associated with growth and mental deficiency. We describe a 25-year-old male patient, classically presenting the phenotypic features of the syndrome, who sought allergologic evaluation to assess the possibility of food allergy due to the presence of eosinophilic esophagitis. Evaluation with specific tests were normal. Further investigation showed a history of severe systemic infections that had not yet been properly screened, and laboratory investigation showed a deficiency in the production of Immunoglobulin G and its subclasses, as well as specific antibodies. He had no cytopenias, and lymphocyte immunophenotyping was normal. We aim to show that considering the recurrence of infections, notably severe ones requiring hospitalization, an adequate immunological evaluation should be performed in these patients.

Keywords : Eosinophilic esophagitis; primary immunodeficiency; Rubinstein-Taybi syndrome.

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