Isolated congenital asplenia

Isolated congenital asplenia is a rare human disease in which children are born without a spleen and, because of a primary immunodeficiency, can suffer life-threatening bacterial infections such as pneumococcal sepsis and meningitis. It is a ribosomopathy caused by an autosomal dominant mutation of the RPSA gene on chromosome 3p21. Unlike heterotaxy syndrome, the missing spleen is not accompanied by other structural developmental defects. In some people a spleen is present but very small and not working properly, a state called hyposplenism.