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to fight potential infection. Without these immune functions, individuals with isolated congenital asplenia are extremely susceptible to infection.
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Mahlaoui N, Minard-Colin V, Picard C, et al. (2011). "Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases".
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Shachor-Meyouhas Y, Sprecher H, Kassis I (2010). "Isolated congenital asplenia--a rare cause of severe pneumococcal sepsis".
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Ahmed SA, Zengeya S, Kini U, Pollard AJ (2010). "Familial isolated congenital asplenia: case report and literature review".
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Mendelian Inheritance in Man. OMIM entry 271400: Asplenia, isolated congenital; ICAS. Johns Hopkins University.
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Online
Mendelian Inheritance in Man. OMIM entry 208530: Right atrial isomerism; RAI. Johns Hopkins University.
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Mendelian Inheritance in Man. OMIM entry 150370: Ribosomal protein SA; RPSA. Johns Hopkins University.
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is a common bacteria that affects individuals with ICAS, often causes meningitis, sepsis, and
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93:(asplenia) is not associated with other structural developmental defects. In some cases the
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and its primary function is to filter blood. However, the spleen also plays a key role in
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245:"Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia"
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responses as it detects pathogens within the blood and secretes
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is present, but very small and nonfunctional (hyposplenism).
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is a rare disease in humans that can cause life-threatening
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243:Bolze A, Mahlaoui N, Byun M, et al. (2013).
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431:"The spleen: Anatomy, function, and disease"
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333:"Genetics. Mysterious ribosomopathies"
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105:The spleen is an organ within the
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407:"Isolated congenital asplenia"
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47:. The infections can include
37:Isolated congenital asplenia
22:Isolated congenital asplenia
217:10.1016/j.jpeds.2010.07.027
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405:Reference, Genetics Home.
304:(in Hebrew and English).
171:10.1007/s00431-009-1030-0
435:www.medicalnewstoday.com
120:Streptococcus pneumoniae
45:primary immunodeficiency
411:Genetics Home Reference
349:10.1126/science.1244156
269:10.1126/science.1234864
461:Congenital disorders
211:(1): 142–8, 148.e1.
41:bacterial infections
261:2013Sci...340..976B
87:heterotaxy syndrome
43:in children due to
67:autosomal dominant
308:(8): 486–9, 552.
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16:Medical condition
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255:(6135): 976–8.
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439:. Retrieved
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125:otitis media
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327:McCann KL,
85:21. Unlike
49:pneumococal
27:Other names
455:Categories
441:2020-09-18
416:2020-09-18
329:Baserga SJ
205:J. Pediatr
131:References
115:phagocytes
61:ICAS is a
56:meningitis
65:, due to
367:23970686
331:(2013).
314:21341424
302:Harefuah
287:23579497
225:20846672
179:19618213
70:mutation
358:3893057
337:Science
278:3677541
257:Bibcode
249:Science
187:8132002
72:of the
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95:spleen
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52:sepsis
183:S2CID
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310:PMID
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79:gene
75:RPSA
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