Friday, May 18, 2012
Zurich Ballroom (Swissotel Chicago)
Rapadilino syndrome, Rothmund-Thomson syndrome and Baller-Gerolds syndrome are three related clinical tableaus caused by mutations in RECQL4. Immunodeficiency is not described as a prominent clinical feature in either of the 3 syndromes. We present a 3 years old girl diagnosed with Rapadilino syndrome presenting with important lymphadenopathies and atypical pneumonia due to disseminated Mycobacterium Lentiflavum infection. Repeated blood samples showed a mild lymphopenia. Immunophenotyping showed low T, B and NK cells. The IL12/IL23-Interferon gamma pathway was normal. Immunoglobulin levels were low and vaccination responses were poor. The child was treated and the clinical condition gradually improved. She receives monthly intravenous immunoglobulin substitution therapy and PCP prophylaxis. This case reports states the need to screen children with RECQL4 mutations for immunodeficiency and stresses the need to further research into the physiopathology.