Information on IMD56
Name: Immunodeficiency 56 | Acronym: IMD56
Alt. names: Immunodeficiency, primary, autosomal recessive, IL21R-related
Gene: IL21R | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2013
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals may manifest with immunodeficiency, and prophylactic measures, as well as early and aggressive treatment of infections may be beneficial; HSCT has been described. Refs. PMIDs: 23440042; 25398835
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.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Recurrent respiratory infections |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Childhood onset |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Cholangitis |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Chronic hepatitis due to cryptosporidium infection |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Recurrent gastrointestinal tract infections |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Recurrent infections |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Recurrent pneumonia |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Bronchiectasis |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 9 | Chronic diarrhea |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 10 | cirrhosis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 11 | Failure to thrive |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 12 | Hepatic failure |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 13 | Panhypogammaglobulinemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Pneumocystis jiroveci pneumonia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Recurrent otitis media |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Recurrent sinusitis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
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).