Information on EDAID1
Basic details
Name: Ectodermal dysplasia and immunodeficiency 1 | Acronym: EDAID1
Alt. names: Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency | XL-EDA-ID
Gene: IKBKG | MOI: X-linked recessive | Mechanism of action:
No. of cases in DB: 1 | First reported in: 2000
Last updated on: 2023-05-17 17:13:47 by
Description
In Immunodeficiency 33 (Atypical mycobacteriosis), there is evidence that considerations should be taken related to certain vaccines (eg, BCG vacine should be avoided), and recognition of potential sequelae of immunodeficiency may allow prompt diagnosis and treatment of infectious manifestations; In Immunodeficiency 33, in addition to vaccine-related considerations, treatment with IVIG has been reported as beneficial; In Ectodermal dysplasia, anhdyrotic/hypohidrotic, with immune deficiency, prophylactic measures relating to infectious complications, (eg, IVIG and antibiotics) have in some individuals been described as improve clinical status when initiated early, and prompt and aggressive treatment of infections may be beneficial; In Isolated immunodeficiency, antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; In Incontinentia pigmenti, type II, which may be clinically recognizable, fluorescein angiography has been recommended in order to diagnose ischemic retina in individuals with retinal changes, and early treatment with peripheral retinal photocoagulation may reduce the risk of retinal detachment; In IKBKG-related immunodeficiency such as Invasive pneumococcal disease, antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; HSCT has been described in Ectodermal dysplasia and immunodeficiency 1. In Ectodermal dysplasia, anhdyrotic/hypohidrotic, with immune deficiency, some individuals have been described as not responding well to preventive measures/treatment; Lung transplantation has been described. Refs. PMIDs: 117248; 8923006; 10839543; 11047757; 11590134; 11242109; 11224521; 11241484; 12588226; 15577852; 15356572; 16228229; 16333836; 16532398; 16818673; 16950813; 20301645; 20829317; 21993693; 22453515; 28993958; 29534156; 30422821; 31965418
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.
1 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
106635 |
M | 216094 | 10 | Possible | Iran | Iranian | PMID:28916186 [P188]; PMID:31117086 [P32] |
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 | repeated bacterial infections |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Reduced natural killer cell activity |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Increased IgA levels |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 4 | Increased IgM levels |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 5 | Molluscum contagiosum |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 6 | Aplasia of the eccrine sweat glands |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Conical incisor |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Frontal bossing |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Lymphoedema |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Cytomegalovirus infection |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 11 | Sparse hair |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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.