Information on WHIMS1
Basic details
Name: Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome | Acronym: WHIMS1
Alt. names: WHIM syndrome
Gene: CXCR4 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2003
Last updated on: 2023-05-17 17:25:50 by
Description
Individuals can be susceptible to a number of types of infections as well as hematologic sequelae, and prophylaxis and medical management (eg, including HPV vaccine, GCSF, CXCR4 antagonists) and early and aggressive treatment of infections can be beneficial. Because of HPV infections, the condition may include oncologic manifestations. Refs. PMIDs: 889707; 2239986; 10767001; 12692554; 25662009; 30625055
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 |
|---|
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.