Rapadilino syndrome and immunodeficiency: a coincidence or a common finding?

Jutte Van Der Werff Ten Bosch, Anne Malfroot, An Van Damme, F. Mascart, Marjan De Rademaecker, Mirjam Van Der Burg

Research output: Chapter in Book/Report/Conference proceedingMeeting abstract (Book)

Abstract

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.
Original languageEnglish
Title of host publication2012 CIS Annual Meeting: Primary Immune Deficiency Disease North American Conference
Pages1568-1568
Number of pages1
Publication statusPublished - 2012
Event2012 CIS Annual Meeting: Primary Immune Deficiency Disease North American Conference - Chicago, United States
Duration: 17 May 201220 May 2012

Conference

Conference2012 CIS Annual Meeting: Primary Immune Deficiency Disease North American Conference
Country/TerritoryUnited States
CityChicago
Period17/05/1220/05/12

Keywords

  • rapadilino
  • sydrome
  • immonodeficiency

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