Literature DB >> 9162158

[Congenital asplenia. A childhood immune deficit often detected too late].

S Ferlicot1, J F Emile, J L Le Bris, G Chéron, N Brousse.   

Abstract

We report a case of fatal pneumococcal sepsis in a previously healthy 22 month old child. At postmorten examination the patient was found to have an atrophic spleen. When other malformations are not associated, congenital asplenia is generally diagnosed after death related to pneumococcal infection.

Entities:  

Mesh：

Year:  1997        PMID： 9162158

Source DB:  PubMed          Journal:  Ann Pathol        ISSN： 0242-6498            Impact factor:   0.407


  5 in total

1.  Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

Authors:  Alexandre Bolze; Bertrand Boisson; Barbara Bosch; Alexander Antipenko; Matthieu Bouaziz; Paul Sackstein; Malik Chaker-Margot; Vincent Barlogis; Tracy Briggs; Elena Colino; Aurora C Elmore; Alain Fischer; Ferah Genel; Angela Hewlett; Maher Jedidi; Jadranka Kelecic; Renate Krüger; Cheng-Lung Ku; Dinakantha Kumararatne; Alain Lefevre-Utile; Sam Loughlin; Nizar Mahlaoui; Susanne Markus; Juan-Miguel Garcia; Mathilde Nizon; Matias Oleastro; Malgorzata Pac; Capucine Picard; Andrew J Pollard; Carlos Rodriguez-Gallego; Caroline Thomas; Horst Von Bernuth; Austen Worth; Isabelle Meyts; Maurizio Risolino; Licia Selleri; Anne Puel; Sebastian Klinge; Laurent Abel; Jean-Laurent Casanova
Journal:  Proc Natl Acad Sci U S A       Date:  2018-08-02       Impact factor: 11.205

Review 2.  Familial isolated congenital asplenia: case report and literature review.

Authors:  Syed Ather Ahmed; Stanley Zengeya; Usha Kini; Andrew J Pollard
Journal:  Eur J Pediatr       Date:  2009-07-19       Impact factor: 3.183

3.  Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.

Authors:  Alexandre Bolze; Nizar Mahlaoui; Minji Byun; Bridget Turner; Nikolaus Trede; Steven R Ellis; Avinash Abhyankar; Yuval Itan; Etienne Patin; Samuel Brebner; Paul Sackstein; Anne Puel; Capucine Picard; Laurent Abel; Lluis Quintana-Murci; Saul N Faust; Anthony P Williams; Richard Baretto; Michael Duddridge; Usha Kini; Andrew J Pollard; Catherine Gaud; Pierre Frange; Daniel Orbach; Jean-Francois Emile; Jean-Louis Stephan; Ricardo Sorensen; Alessandro Plebani; Lennart Hammarstrom; Mary Ellen Conley; Licia Selleri; Jean-Laurent Casanova
Journal:  Science       Date:  2013-04-11       Impact factor: 47.728

Review 4.  Sporadic isolated congenital asplenia with fulminant pneumococcal meningitis: a case report and updated literature review.

Authors:  Shigeo Iijima
Journal:  BMC Infect Dis       Date:  2017-12-18       Impact factor: 3.090

5.  A Rare Association of Congenital Asplenia with Jejunal Arteriovenous Malformation.

Authors:  Jelena Z Arnautovic; Areej Mazhar; Stela Tereziu; Kashvi Gupta
Journal:  Am J Case Rep       Date:  2017-10-19
  5 in total

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