Congenital Absence of the Spleen in an Adult

Myerson, Ralph M.; Koelle, Winifred A.

doi:10.1056/nejm195606142542406

Cited by 40 publications

(13 citation statements)

References 9 publications

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“…Patients with isolated congenital asplenia (ICA) are born without a spleen and display no other known developmental anomalies (MIM 271400) (1-3). Only 73 patients from 48 kindreds have been reported to date (1,3-6).…”

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confidence: 99%

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Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

Bolze

Mahlaoui

Byun

et al. 2013

Science

176

152

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Isolated congenital asplenia (ICA) is characterized by the absence of a spleen at birth in individuals with no other developmental defects. The patients are prone to life-threatening bacterial infections. The unbiased analysis of exomes revealed heterozygous mutations in RPSA in 18 patients from eight kindreds, corresponding to more than half the patients and over one third of the kindreds studied. The clinical penetrance in these kindreds is complete. Expression studies indicated that the mutations carried by the patients - a nonsense, a frameshift duplication and five different missense - cause autosomal dominant ICA by haploinsufficiency. Population genetic studies showed that RPSA was subject to purifying selection. RPSA encodes ribosomal protein SA, a component of the small subunit of the ribosome. This discovery establishes an essential role for RPSA in human spleen development.

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confidence: 99%

“…Only 73 patients from 48 kindreds have been reported to date (1,3-6). We recruited an international cohort of 33 ICA patients from 23 kindreds (fig.…”

mentioning

confidence: 99%

Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

Bolze

Mahlaoui

Byun

et al. 2013

Science

176

152

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“…Waterhouse-Friderichsen syndrome associated with pneumococcal septicaemia is found with striking frequency in these reports. In a case of recurrent Waterhouse-Friderichsen syndrome due to streptococcal pneumonia congenital absence of the spleen was found at necropsy (Myerson and Koelle, 1956).…”

Section: Case Reportmentioning

confidence: 99%

Fatal pneumococcal septicemia after splenectomy.

Karatzas¹

1966

BMJ

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“…They also cite one case of a boy of 13 years, with no associated abnormalities, who died of injuries. Myerson and Koelle (1956) report a further case of an adult, with no other congenital abnormalities, who had a recurrent Waterhouse-Friderichsen syndrome. The case here reported is therefore the twenty-second case over the age of 3 years and the twenty-first in an adult.…”

mentioning

confidence: 89%

Congenital Agenesis of the Spleen With Chronic Enterocolitis in an Adult

Jg¹

1958

J Clin Pathol

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Congenital Absence of the Spleen in an Adult

Cited by 40 publications

References 9 publications

Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

Fatal pneumococcal septicemia after splenectomy.

Congenital Agenesis of the Spleen With Chronic Enterocolitis in an Adult

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