2012 CIS Advanced PID School May 17, 2012
2012 CIS Annual Meeting: Primary Immune Deficiency Disease North American Conference May 17 - 20, 2012

Friday, May 18, 2012
Zurich Ballroom (Swissotel Chicago)
Jutte E. van der Werff ten Bosch, MD, PhD1, Anne Malfroot, MD, PhD1, An Van Damme, MD, PhD1, Francoise Mascart, MD, PhD2, Marjan De Rademaecker, MD3 and Mirjam van der Burg, PhD4, (1)Pediatrics, UZ Brussel, Brussels, Belgium, (2)Laboratoires d'Immuno-Hémato-Transfusion, Hopital Erasme, Brussels, Belgium, (3)Department of Embryology and Genetics, UZ Brussel, Brussels, Belgium, (4) Department of Immunology, Erasmus MC, Rotterdam, Netherlands
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.