Information on HES
Basic details
Name: STAT5b-associated hypereosinophilic syndrome | Acronym: HES
Alt. names: Hypereosinophilic syndrome due to somatic mutations in STAT5b
Gene: STAT5B | MOI: Somatic | Mechanism of action: Gain of Function
No. of cases in DB: 0 | First reported in: 2017
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
OMIM:
Orphanet: -
MONDO: -
DOID: -
ClinGen:
Description
It is characterized by eosinophilia, atopic dermatitis, urticarial rash, diarrhea and normal numbers of circulating B, and T cells, and no hypogammaglobulinemia.(DOI:10.1182/blood-2016-09-737817, PMID:33542831 , DOI:10.1080/10428194.2022.2131413)
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 |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
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Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.