Information on IMD11A
Basic details
Name: Immunodeficiency 11A | Acronym: IMD11A
Alt. names: CARD11-associated (severe) combined immunodeficiency
Gene: CARD11 | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2013
Last updated on: 2023-02-28 16:41:18 by
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.
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).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Infantile onset |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Pneumocystis jiroveci pneumonia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Agammaglobulinemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Hypogammaglobulinemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Decreased proportion of regulatory T cells |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Immunodeficiency |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Monocytopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Recurrent respiratory infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Reduced antigen-specific T cell proliferation |
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.