Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia
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 J-F., Stephan J-L., Sorensen R., Plebani A., Hammarstrom L., Conley ME., Selleri L., Casanova J-L.
Spleen Knockout Explained Isolated congenital asplenia (ICA) is a rare disorder where patients are born without a spleen and are at increased risk of bacterial infection but have no other developmental abnormalities. Through sequence analysis of familial and sporadic cases, Bolze et al. (p. 976 , published online 11 April) found that ICA patients carry mutations in the gene encoding ribosomal protein SA and as a result express about half the normal amount of this protein. The mechanism by which reduced expression of a housekeeping protein causes an organ-specific defect remains unclear.