Background and Aims

Patients with Rubinstein Taybi Syndrome (RSTS) suffer from recurrent infections. Yet, immunological alterations have not been described in this syndrome. Here we aim to investigate if primary immunodeficiency (PID) is associated with RSTS.

Methods

We performed a Pubmed search for “Rubinstein Taybi Syndrome” to identify all published RSTS patients from 2000 onwards. We contacted the corresponding authors of all relevant publications and all referring physicians to obtain complete immunological data and current clinical information. We also contacted colleagues involved in the diagnosis of PID to identify additional patients.

Results

Eighteen RSTS patients were identified (Table 1). For eleven patients, we retrieved data from the published report while for seven patients a 2019 clinical update was provided. Nine patients received a molecular diagnosis, while the remaining cases were clinically diagnosed. The median age at last follow-up was 15 years (range, 2-46 years). All but two patients had recurrent or severe infections (88.9%); five autoimmune disease (27.8%), and four lymphoproliferation (22.2%). One neuroendocrine tumor occurred (5.6%).

Following immunological investigations (Table 2), only three patients showed no abnormalities (16.7%). Humoral and antibody defects were predominant (9/18; 50%) while five patients had combined or severe immunodeficiency (37.8%). Nine patients (50%) were on Ig replacement therapy, seven received antibiotic or antifungal prophylaxis, and one patient received bone marrow transplantation for Omenn’s syndrome.

Conclusions

RSTS can present with a clinical and immunological phenotype of PID, with a high burden of infectious complications. Full immunological work-up is warranted in these patients, who may require specific supportive treatment.