| 词条 | Isolated congenital asplenia |
| 释义 |
| name = {{PAGENAME}} | synonym = ICAS | image = | width = | alt = | caption = | pronounce = | field = | symptoms = | onset = | duration = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | frequency = | deaths = }}Isolated congenital asplenia is a rare disease in humans that can cause life-threatening bacterial infections in children due to primary immunodeficiency.[1][3][4] The infections can include pneumococal sepsis and meningitis.[6] ICAS is a ribosomopathy,[7] due to autosomal dominant mutation of the RPSA gene on chromosome 3p21.[4][9] Unlike heterotaxy syndrome,[10] the absent spleen is not associated with other structural developmental defects.[3][4] References1. ^1 2 3 {{cite journal |vauthors=Bolze A, Mahlaoui N, Byun M, etal |title=Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia |journal=Science |volume=340 |issue=6135 |pages=976–8 |year=2013 |pmid=23579497 |pmc=3677541 |doi=10.1126/science.1234864 |url=}} [1][2][3][4][5][6][7]2. ^1 2 {{cite journal |vauthors=Mahlaoui N, Minard-Colin V, Picard C, etal |title=Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases |journal=J. Pediatr. |volume=158 |issue=1 |pages=142–8, 148.e1 |year=2011 |pmid=20846672 |doi=10.1016/j.jpeds.2010.07.027 |url=}} 3. ^1 {{cite journal |authors=McCann KL, Baserga SJ |title=Genetics. Mysterious ribosomopathies |journal=Science |volume=341 |issue=6148 |pages=849–50 |year=2013 |pmid=23970686 |pmc=3893057 |doi=10.1126/science.1244156 |url=}} 4. ^1 Online Mendelian Inheritance in Man. OMIM entry 208530: Right atrial isomerism; RAI. Johns Hopkins University. [https://omim.org/entry/208530] 5. ^1 Online Mendelian Inheritance in Man. OMIM entry 271400: Asplenia, isolated congenital; ICAS. Johns Hopkins University. [https://omim.org/entry/271400] 6. ^1 Online Mendelian Inheritance in Man. OMIM entry 150370: Ribosomal protein SA; RPSA. Johns Hopkins University. [https://omim.org/entry/150370] 7. ^1 {{cite journal |authors=Shachor-Meyouhas Y, Sprecher H, Kassis I |title=Isolated congenital asplenia--a rare cause of severe pneumococcal sepsis |language=Hebrew, English |journal=Harefuah |volume=149 |issue=8 |pages=486–9, 552 |year=2010 |pmid=21341424 |doi= |url=}} }}{{DEFAULTSORT:Isolated congenital asplenia}} 3 : Congenital disorders|Immunodeficiency|Ribosomopathy |
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