title: Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature.
abstract: Rapadilino syndrome is a genetic disease characterized by a characteristic clinical tableau. It is caused by mutations in RECQL4 gene. Immunodeficiency is not described as a classical feature of the disease. We present a 2-year-old girl with Rapadilino syndrome with important lymphadenopathies and pneumonia due to disseminated Mycobacterium lentiflavum infection. An immunological work-up showed several unexpected abnormalities. Repeated blood samples showed severe lymphopenia. Immunophenotyping showed low T, B, and NK cells. No Treg cells were seen. T cell responses to stimulations were insufficient. The IL12/IL23 interferon gamma pathway was normal. Gamma globulin levels and vaccination responses were low. With this report, we aim to stress the importance of screening immunodeficiency in patients with RECQL4 mutations for immunodeficiency and the need to further research into its physiopathology.
authors.affiliation: Department of Pediatrics, University Hospital Brussels, 1090 Brussels, Belgium.
authors.forename: M M G
authors.initials: MM
authors.lastname: Vollebregt
authors.affiliation: Department of Pediatrics, University Hospital Brussels, 1090 Brussels, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Malfroot
authors.affiliation: Department of Genetics, University Hospital Brussels, 1090 Brussels, Belgium.
authors.forename: M
authors.initials: M
authors.lastname: De Raedemaecker
authors.affiliation: Department of Immunology, Erasmus MC, 3015 CN Rotterdam, Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: van der Burg
authors.affiliation: Department of Pediatric Hematology, Oncology and Immunology, University Hospital Brussels, 1090 Brussels, Belgium.
authors.forename: J E
authors.initials: JE
authors.lastname: van der Werff Ten Bosch