Isolated congenital asplenia

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]

Isolated congenital asplenia
Other namesICAS

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]

Immunodeficiency

The spleen is an organ within the lymphatic system and its primary function is to filter blood. However, the spleen also plays a key role in immune responses as it detects pathogens within the blood and secretes phagocytes to fight potential infection. Without these immune functions, individuals with isolated congenital asplenia are extremely susceptible to infection. [10] Streptococcus pneumoniae is a common bacteria that affects individuals with ICAS, often causes meningitis, sepsis, and otitis media. [9]

References
  1. Online Mendelian Inheritance in Man. OMIM entry 271400: Asplenia, isolated congenital; ICAS. Johns Hopkins University.
  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. S2CID 8132002.CS1 maint: uses authors parameter (link)
  3. 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. Bolze A, Mahlaoui N, Byun M, et al. (2013). "Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia". Science. 340 (6135): 976–8. Bibcode:2013Sci...340..976B. doi:10.1126/science.1234864. PMC 3677541. 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.CS1 maint: uses authors parameter (link)
  6. McCann KL, Baserga SJ (2013). "Genetics. Mysterious ribosomopathies". Science. 341 (6148): 849–50. doi:10.1126/science.1244156. PMC 3893057. PMID 23970686.CS1 maint: uses authors parameter (link)
  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.
  9. Reference, Genetics Home. "Isolated congenital asplenia". Genetics Home Reference. Retrieved 2020-09-18.
  10. "The spleen: Anatomy, function, and disease". www.medicalnewstoday.com. 2018-01-23. Retrieved 2020-09-18.
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