Information on IMD129
Basic details
Name: Immunodeficiency 129 | Acronym: IMD129
Alt. names: Epidermodysplasia verruciformis, susceptibility to, 4
Gene: RHOH | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2012
Last updated on: 2023-02-28 16:41:18 by
Description
It is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life. Some affected individuals have increased susceptibility to certain human papillomaviruses (HPV), resulting in warts and skin lesions that do not respond to treatment, as well as opportunistic infections. Immunologic studies usually show decreased CD4+ T cells, increased effector memory T cells, and decreased naive T cells, suggesting a defect in T-cell development. Some individuals may also have decreased NK cells and B cells, as well as hypogammaglobulinemia. The phenotype is variable (Crequer et al., 2012; Zhou et al., 2024).[source:OMIM]
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 | Childhood onset |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Disseminated cutaneous warts |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Increased proportion of exhausted T cells |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Burkitt lymphoma |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 5 | Pulmonary Emphysema |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 6 | Rosacea |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 7 | Stomatitis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
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.