Information on CADINS
Name: CADINS disease | Acronym: CADINS
Alt. names: IMD11B | Immunodeficiency 11B with atopic dermatitis | CARD11-associated Atopy with Dominant Interference of NF-kB signalling
Gene: CARD11 | MOI: Autosomal dominant | Mechanism of action: Negative Dominance
No. of cases in DB: 0 | First reported in: 2017
Last updated on: 2024-10-24 by Bradly Bauman
Description
For Immunodeficiency 11A and 11B and B-cell expansion with NFKB and T-cell anergy, individuals may be prone to frequent infections, and prophylactic measures, as well as early and aggressive treatment of infections may be beneficial; For B-cell expansion with NFKB and T-cell anergy, individuals may be predisposed to B cell malignancy, and awareness may allow early recognition and management; HSCT has been described in Congenital B cell lymphocytosis. Refs. PMIDs: 23129749; 23374270; 23561803; 25352053; 25930198
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 | Atopic dermatitis |
8 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Eosinophilia |
6 (85.7%) | 0 (0.0%) | 1 (14.3%) |
| 3 | Asthma |
5 (62.5%) | 0 (0.0%) | 3 (37.5%) |
| 4 | Increased IgE levels |
5 (71.4%) | 0 (0.0%) | 2 (28.6%) |
| 5 | Pneumonia |
4 (50.0%) | 0 (0.0%) | 4 (50.0%) |
| 6 | Decreased IgM levels |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 7 | Food allergy |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 8 | Bronchiectasis |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 9 | Chronic diarrhea |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 10 | Colonic eosinophilia |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 11 | Disseminated molluscum contagiosum |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 12 | Severe CMV infection |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 13 | ulcerative colitis |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
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).