Information on JBS
Basic details
Name: Jacobsen syndrome | Acronym: JBS
Alt. names:
Gene: ETS1 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2022
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
It is a complex syndrome caused by a terminal deletion in chromosome 11. There are over 200 patients described and at least 40-45 patients have been reported having immunologic abnormalities. Out of the 6 immune-related genes located within the affected part of chromosome 11 (ETS1, TIRAP, FLI1, NFRKB, THYN1, andSNX19), whole gene deletion of ETS1 has been recently linked to the immunological features of 3 patients with low RTE counts and low non-switched memory B cell (CD27+IgD+) counts. Only 2 showed additional T and B cell abnormalities(PMID: 36341443).
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
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AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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