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Xu, C. Isolated Congenital Asplenia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4205 (accessed on 28 September 2026).
Xu C. Isolated Congenital Asplenia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4205. Accessed September 28, 2026.
Xu, Camila. "Isolated Congenital Asplenia" Encyclopedia, https://encyclopedia.pub/entry/4205 (accessed September 28, 2026).
Xu, C. (2020, December 23). Isolated Congenital Asplenia. In Encyclopedia. https://encyclopedia.pub/entry/4205
Xu, Camila. "Isolated Congenital Asplenia." Encyclopedia. Web. 23 December, 2020.
Isolated Congenital Asplenia
Edit

Isolated congenital asplenia is a condition in which affected individuals are missing their spleen (asplenia) but have no other developmental abnormalities. While most individuals with this condition have no spleen at all, some people have a very small, nonfunctional spleen (hyposplenism).

genetic conditions

References

  1. Ahmed SA, Zengeya S, Kini U, Pollard AJ. Familial isolated congenitalasplenia: case report and literature review. Eur J Pediatr. 2010Mar;169(3):315-8. doi: 10.1007/s00431-009-1030-0.
  2. 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, Krüger R, Ku CL, Kumararatne D, Lefevre-Utile A, Loughlin S, Mahlaoui N, Markus S, Garcia JM, Nizon M, Oleastro M, Pac M, PicardC, 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. Incompletepenetrance for isolated congenital asplenia in humans with mutations intranslated and untranslated RPSA exons. Proc Natl Acad Sci U S A. 2018 Aug21;115(34):E8007-E8016. doi: 10.1073/pnas.1805437115.
  3. 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, FrangeP, Orbach D, Emile JF, Stephan JL, Sorensen R, Plebani A, Hammarstrom L, ConleyME, Selleri L, Casanova JL. Ribosomal protein SA haploinsufficiency in humanswith isolated congenital asplenia. Science. 2013 May 24;340(6135):976-8. doi:10.1126/science.1234864.
  4. Davies JM, Lewis MP, Wimperis J, Rafi I, Ladhani S, Bolton-Maggs PH; BritishCommittee for Standards in Haematology. Review of guidelines for the preventionand treatment of infection in patients with an absent or dysfunctional spleen:prepared on behalf of the British Committee for Standards in Haematology by aworking party of the Haemato-Oncology task force. Br J Haematol. 2011Nov;155(3):308-17. doi: 10.1111/j.1365-2141.2011.08843.x. Review.
  5. 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 20cases. J Pediatr. 2011 Jan;158(1):142-8, 148.e1. doi:10.1016/j.jpeds.2010.07.027.
  6. Salvadori MI, Price VE; Canadian Paediatric Society, Infectious Diseases andImmunization Committee. Preventing and treating infections in children withasplenia or hyposplenia. Paediatr Child Health. 2014 May;19(5):271-8. English,French.
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Update Date: 23 Dec 2020
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