Information on IMD40
Basic details
Name: Immunodeficiency 40 | Acronym: IMD40
Alt. names:
Gene: DOCK2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 1 | First reported in: 2015
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals are susceptible to frequent and severe infections, and antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; BMT has been described. Refs. PMIDs: 26083206
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
1 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
102225 |
M | 214920 | 20 | Romania | Romanian | PMID:35486341 [P063] |
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 | Splenomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Abnormal lymphoproliferation |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Lung disease |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Reduced proportion of naive CD4 T cells |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | (unusual) Epstein-Barr virus infection |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Lymphoma |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | (unusual) Viral infection |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.