Genetics Home Reference: isolated congenital asplenia

By | May 4, 2019
  • Ahmed SA, Zengeya S, Kini U, Pollard AJ. Familial isolated congenital asplenia: case report and literature review. Eur J Pediatr. 2010 Mar;169(3):315-8. doi: 10.1007/s00431-009-1030-0. Epub 2009 Jul 19. Review.

  • Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P, Chaker-Margot M, Barlogis V, Briggs T, Colino E, Elmore AC, Fischer A, Genel F, Hewlett A, Jedidi M, Kelecic J, Kr├╝ger R, Ku CL, Kumararatne D, Lefevre-Utile A, Loughlin S, Mahlaoui N, Markus S, Garcia JM, Nizon M, Oleastro M, Pac M, Picard C, Pollard AJ, Rodriguez-Gallego C, Thomas C, Von Bernuth H, Worth A, Meyts I, Risolino M, Selleri L, Puel A, Klinge S, Abel L, Casanova JL. Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons. Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8007-E8016. doi: 10.1073/pnas.1805437115. Epub 2018 Aug 2.

  • Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, Abhyankar A, Itan Y, Patin E, Brebner S, Sackstein P, Puel A, Picard C, Abel L, Quintana-Murci L, Faust SN, Williams AP, Baretto R, Duddridge M, Kini U, Pollard AJ, Gaud C, Frange P, Orbach D, Emile JF, Stephan JL, Sorensen R, Plebani A, Hammarstrom L, Conley ME, Selleri L, Casanova JL. Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science. 2013 May 24;340(6135):976-8. doi: 10.1126/science.1234864. Epub 2013 Apr 11.

  • Mahlaoui N, Minard-Colin V, Picard C, Bolze A, Ku CL, Tournilhac O, Gilbert-Dussardier B, Pautard B, Durand P, Devictor D, Lachassinne E, Guillois B, Morin M, Gouraud F, Valensi F, Fischer A, Puel A, Abel L, Bonnet D, Casanova JL. Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases. J Pediatr. 2011 Jan;158(1):142-8, 148.e1. doi: 10.1016/j.jpeds.2010.07.027. Epub 2010 Sep 16.

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