Information on HIES5
Basic details
Name: Hyper-IgE recurrent infection syndrome 5 | Acronym: HIES5
Alt. names: IL6 receptor deficiency
Gene: IL6R | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2019
Last updated on: 2023-02-28 16:41:18 by
Description
The condition can involve early-onset recurrent and sever inffections, and awareness may allow prophylaxis and early and aggressive treatment of infections. Refs. PMIDs: 31235509
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
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).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Atopic dermatitis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased IgG levels |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Decreased IgM levels |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Increased IgE levels |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Cellulitis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 6 | Increased circulating IL-6 |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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 |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.