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Isolated congenital asplenia 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. In some cases the spleen is present, but very small and nonfunctional.
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