Information on IMD130
Name: Immunodeficiency 130 with HPV-related verrucosis | Acronym: IMD130
Alt. names: Epidermodysplasia verruciformis, susceptibility to, 5
Gene: IL7 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2015
Last updated on: 2024-12-12 by
Description
It is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life. There is an increased risk of skin malignancy. Some patients may have other symptoms of immune dysfunction, including mycobacterial, herpes simplex virus (HSV), or fungal infections. Immunologic workup shows T-cell lymphopenia, particularly affecting CD4+ T cells (Horev et al., 2015, PMID:25981006, Arango-Franco et al., 2024, PMID:39352394).[source:OMIM]
Management
Description of management option has not been reviewed yet.
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Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Lymphopenia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Reduced T cell count |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Cryptococcal meningitis |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 4 | Squamous cell carcinoma of the skin |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
Age of onset
distribution
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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.
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).