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.[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 is not associated with other structural developmental defects.[3][4]

References

  1. ↑ Online Mendelian Inheritance in Man. OMIM entry 271400: Asplenia, isolated congenital; ICAS. Johns Hopkins University.
  2. 1 2 Ahmed SA, Zengeya S, Kini U, Pollard AJ (2010). "Familial isolated congenital asplenia: case report and literature review". Eur. J. Pediatr. 169 (3): 315–8. doi:10.1007/s00431-009-1030-0. PMID 19618213.
  3. 1 2 Mahlaoui N, Minard-Colin V, Picard C, et al. (2011). "Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases". J. Pediatr. 158 (1): 142–8, 148.e1. doi:10.1016/j.jpeds.2010.07.027. PMID 20846672.
  4. 1 2 3 Bolze A, Mahlaoui N, Byun M, et al. (2013). "Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia". Science. 340 (6135): 976–8. doi:10.1126/science.1234864. PMC 3677541Freely accessible. PMID 23579497.
  5. ↑ Shachor-Meyouhas Y, Sprecher H, Kassis I (2010). "Isolated congenital asplenia--a rare cause of severe pneumococcal sepsis". Harefuah (in Hebrew and English). 149 (8): 486–9, 552. PMID 21341424.
  6. ↑ McCann KL, Baserga SJ (2013). "Genetics. Mysterious ribosomopathies". Science. 341 (6148): 849–50. doi:10.1126/science.1244156. PMC 3893057Freely accessible. PMID 23970686.
  7. ↑ Online Mendelian Inheritance in Man. OMIM entry 150370: Ribosomal protein SA; RPSA. Johns Hopkins University.
  8. ↑ Online Mendelian Inheritance in Man. OMIM entry 208530: Right atrial isomerism; RAI. Johns Hopkins University.
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