Information on WHIMS2
Basic details
Name: WHIM syndrome 2 | Acronym: WHIMS2
Alt. names: CXCR2 deficiency
Gene: CXCR2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2014
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
There are only a few cases reported with this condition. Affected subjects present with profound neutropenia, myelokathexis, recurrent gingivitis, oral ulcers, and hypergammaglobulinemia. It is functionally characterized by reduced CXCR2 expression and impaired responses to CXCL8.
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 |
|---|
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 | Chronic neutropenia |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Childhood onset |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Recurrent gingivitis |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Myelokathexis |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 5 | Severe infection |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 6 | Tetralogy of Fallot |
0 (0.0%) | 0 (0.0%) | 4 (99.9%) |
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.