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Isolated congenital asplenia

January 01, 1970

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 edit

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 edit

  1. ^ Online Mendelian Inheritance in Man. OMIM entry 271400: Asplenia, isolated congenital; ICAS. Johns Hopkins University. [1]
  2. ^ a b 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.
  3. ^ a b 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. ^ a b c 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.
  6. ^ McCann KL, Baserga SJ (2013). "Genetics. Mysterious ribosomopathies". Science. 341 (6148): 849–50. doi:10.1126/science.1244156. PMC 3893057. PMID 23970686.
  7. ^ Online Mendelian Inheritance in Man. OMIM entry 150370: Ribosomal protein SA; RPSA. Johns Hopkins University. [2]
  8. ^ Online Mendelian Inheritance in Man. OMIM entry 208530: Right atrial isomerism; RAI. Johns Hopkins University. [3]
  9. ^ a b 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.

January 01, 1970
isolated, congenital, asplenia, rare, disease, humans, that, cause, life, threatening, bacterial, infections, children, primary, immunodeficiency, infections, include, pneumococal, sepsis, meningitis, other, namesicas, icas, ribosomopathy, autosomal, dominant,. 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 aspleniaOther 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 editThe 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 edit Online Mendelian Inheritance in Man OMIM entry 271400 Asplenia isolated congenital ICAS Johns Hopkins University 1 a b 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 a b 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 a b c 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 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 McCann KL Baserga SJ 2013 Genetics Mysterious ribosomopathies Science 341 6148 849 50 doi 10 1126 science 1244156 PMC 3893057 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 a b Reference Genetics Home Isolated congenital asplenia Genetics Home Reference Retrieved 2020 09 18 The spleen Anatomy function and disease www medicalnewstoday com 2018 01 23 Retrieved 2020 09 18 Retrieved from https en wikipedia org w index php title Isolated congenital asplenia amp oldid 1193822156, wikipedia, wiki, book, books, library,

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