Medicine:Isolated congenital asplenia
| 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]
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
- ↑ Online Mendelian Inheritance in Man. OMIM entry 271400: Asplenia, isolated congenital; ICAS. Johns Hopkins University. [1]
- ↑ 2.0 2.1 "Familial isolated congenital asplenia: case report and literature review". Eur. J. Pediatr. 169 (3): 315–8. 2010. doi:10.1007/s00431-009-1030-0. PMID 19618213.
- ↑ 3.0 3.1 "Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases". J. Pediatr. 158 (1): 142–8, 148.e1. 2011. doi:10.1016/j.jpeds.2010.07.027. PMID 20846672.
- ↑ 4.0 4.1 4.2 "Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia". Science 340 (6135): 976–8. 2013. doi:10.1126/science.1234864. PMID 23579497. Bibcode: 2013Sci...340..976B.
- ↑ "Isolated congenital asplenia--a rare cause of severe pneumococcal sepsis" (in he, en). Harefuah 149 (8): 486–9, 552. 2010. PMID 21341424.
- ↑ "Genetics. Mysterious ribosomopathies". Science 341 (6148): 849–50. 2013. doi:10.1126/science.1244156. PMID 23970686.
- ↑ Online Mendelian Inheritance in Man. OMIM entry 150370: Ribosomal protein SA; RPSA. Johns Hopkins University. [2]
- ↑ Online Mendelian Inheritance in Man. OMIM entry 208530: Right atrial isomerism; RAI. Johns Hopkins University. [3]
- ↑ 9.0 9.1 Reference, Genetics Home. "Isolated congenital asplenia" (in en). https://ghr.nlm.nih.gov/condition/isolated-congenital-asplenia.
- ↑ "The spleen: Anatomy, function, and disease" (in en). 2018-01-23. https://www.medicalnewstoday.com/articles/320698.
 |  |
