Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.

doi:10.1126/science.1234864

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Article

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.

Science (New York, N.Y.) - 24 May 2013

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

Abstract excerpt

Isolated congenital asplenia (ICA) is characterized by the absence of a spleen at birth in individuals with no other developmental defects. The patients are prone to life-threatening bacterial infections. The unbiased analysis of exomes revealed heterozygous mutations in RPSA in 18 patients from eight kindreds, corresponding to more than half the patients and over one-third of the kindreds studied. The clinical...

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Identifiers

PMID: 23579497
DOI: 10.1126/science.1234864
PMCID: PMC3677541

Genes

RPSA

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