Information on EDAID2
Basic details
Name: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency | Acronym: EDAID2
Alt. names:
Gene: NFKBIA | MOI: Autosomal dominant | Mechanism of action: Gain of Function
No. of cases in DB: 1 | First reported in: 2003
Last updated on: 2023-02-28 16:41:18 by
Description
In addition to ectodermal manifestations, individuals have immunodeficiency, and surveillance/prophylaxis/aggressive treatments of infection may be beneficial; BMT has been reported as effective. Syndromic features may not be clinically recognizable prior to infectious manifestations. Refs. PMIDs: 15337789; 16769798; 17931563; 18412279; 23708964; 23864385; 23870671; 26691317; 28417298; 28597146; 29948576
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 |
|---|---|---|---|---|---|---|---|---|
102819 |
M | 214995 | 0 | PMID:14523047 [Patient(II.1)] |
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 | (unusual) Respiratory tract infection |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Hepatopathy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Hepatosplenomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Abnormal lymphoproliferation |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Enteropathy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Diarrhea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Failure to thrive |
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.