Isolated congenital asplenia

Isolated congenital asplenia (ICAS) is a rare disease in humans that can cause life-threatening bacterial infections in children due to primary immunodeficiency. The infections can include pneumococal sepsis and meningitis.

ICAS is a ribosomopathy, due to autosomal dominant mutation of the RPSA gene on chromosome 3p21. Unlike heterotaxy syndrome, the absent spleen is not associated with other structural developmental defects.