Isolated congenital asplenia
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| Isolated congenital asplenia | |
|---|---|
| Other names | ICAS |
Isolated congenital asplenia is a rare disease in humans that can cause life-threatening bacterial infections in children due to primary immunodeficiency.[1][2][3][4] The infections can include pneumococal sepsis and meningitis.[2][5]
ICAS is a ribosomopathy,[6] due to autosomal dominant mutation of the RPSA gene on chromosome 3p21.[4][7] Unlike heterotaxy syndrome,[8] the absent spleen (asplenia) is not associated with other structural developmental defects.[3][4] In some cases the spleen is present, but very small and nonfunctional (hyposplenism). [9]