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2002 2
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Sporadic isolated congenital asplenia with fulminant pneumococcal meningitis: a case report and updated literature review.
Iijima S. Iijima S. BMC Infect Dis. 2017 Dec 18;17(1):777. doi: 10.1186/s12879-017-2896-5. BMC Infect Dis. 2017. PMID: 29254492 Free PMC article. Review.
BACKGROUND: Isolated congenital asplenia (ICA) is a rare and life-threatening condition that predisposes patients to severe bacterial infections. ...Here, we report a case of sporadic isolated asplenia and review the literature while focusing on …
BACKGROUND: Isolated congenital asplenia (ICA) is a rare and life-threatening condition that predisposes patients to se …
Familial isolated congenital asplenia: case report and literature review.
Ahmed SA, Zengeya S, Kini U, Pollard AJ. Ahmed SA, et al. Eur J Pediatr. 2010 Mar;169(3):315-8. doi: 10.1007/s00431-009-1030-0. Epub 2009 Jul 19. Eur J Pediatr. 2010. PMID: 19618213 Review.
In affected individuals, the use of appropriate antibiotic prophylaxis and immunisations could save lives. In our report, we describe a family of three siblings with isolated congenital asplenia and unaffected parents, suggestive of recessive inheritan …
In affected individuals, the use of appropriate antibiotic prophylaxis and immunisations could save lives. In our report, we describe a f
Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others.
Gilbert B, Menetrey C, Belin V, Brosset P, de Lumley L, Fisher A. Gilbert B, et al. Eur J Pediatr. 2002 Jul;161(7):368-72. doi: 10.1007/s00431-002-0965-1. Epub 2002 Jun 4. Eur J Pediatr. 2002. PMID: 12111187 Review.
In the case of congenital isolated asplenia, use of appropriate prophylaxis could save the lives of affected children. Our review of the literature yielded 31 cases of congenital isolated asplenia. Thirteen were sporadic and 18 were fa
In the case of congenital isolated asplenia, use of appropriate prophylaxis could save the lives of affected children. …
Human primary immunodeficiencies causing defects in innate immunity.
Wong T, Yeung J, Hildebrand KJ, Junker AK, Turvey SE. Wong T, et al. Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):607-13. doi: 10.1097/ACI.0000000000000010. Curr Opin Allergy Clin Immunol. 2013. PMID: 24126612 Review.
RECENT FINDINGS: We will specifically focus on three areas that have seen recent significant advances: defects in Toll-like receptor signalling that enhance susceptibility to viral infection, particularly herpes simplex encephalitis; defects in innate immunity that impact phagocy …
RECENT FINDINGS: We will specifically focus on three areas that have seen recent significant advances: defects in Toll-like receptor signall …
[Transposition of great arteries. Understanding its pathogenesis].
Marino B, Digilio MC, Versacci P, Anaclerio S, Dallapiccola B. Marino B, et al. Ital Heart J Suppl. 2002 Feb;3(2):154-60. Ital Heart J Suppl. 2002. PMID: 11926021 Review. Italian.
In mice with mutation of Smad2 and NODAL, two genes involved in the lateralization process, some cases of TGA, with or without right isomerism of the lungs, were reported. Moreover, in families with heterotaxy some cases with congenitally corrected TGA were reported …
In mice with mutation of Smad2 and NODAL, two genes involved in the lateralization process, some cases of TGA, with or without right isomeri …