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Isolated congenital asplenia
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Isolated congenital asplenia : ウィキペディア英語版
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.〔〔
==References==


抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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