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Splenic Hypoplasia [Supplementary Concept]

A rare hereditary autosomal dominant cause of primary immunodeficiency. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably HETEROTAXY SYNDROMES such as Ivemark syndrome. Mutations in the RPSA gene have been identified. OMIM: 271400

Date introduced: November 5, 2012

MeSH Unique ID: C563028

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Entry Terms:

  • Hyposplenia, Isolated Congenital
  • Asplenia, Familial

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