Information on ICAS
Name: Asplenia, isolated congenital | Acronym: ICAS
Alt. names: isolated congenital asplenia
Gene: RPSA | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2013
Last updated on: 2023-07-27 10:53:53 by Andrés Caballero-Oteyza
Description
A rare non-syndromic form of isolated congenital asplenia. The lack of a normal spleen results in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. An absent spleen on abdominal ultrasound examination plus Howell-Jolly bodies on blood smears are highly suggestive of this condition. Most affected individuals die of severe bacterial infections in early childhood.
Management
Description of management option has not been reviewed yet.
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Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|
Age of onset
distribution
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).