Information on IMD84
Basic details
Name: Immunodeficiency 84 | Acronym: IMD84
Alt. names: AIOLOS deficiency
Gene: IKZF3 | MOI: Autosomal dominant | Mechanism of action: Negative Dominance
No. of cases in DB: 8 | First reported in: 2021
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
At least 7 patients have been described, who presented with EBV susceptibility, recurrent sinopulmonary & respiratory infections, Pneumocystis jirovecii, warts (HPV), M avium, and B cell malignancy. Immunophenotyping showed very low Ig levels, reduced number of B cells with impaired development, and normal T cell counts (PMID:34155405, 34694366).
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.
8 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
105341 |
F | 215703 | 2 | 0 | PMID:34694366 [Fam.1:III.1(p1)] | |||
| 105377 |
F | 215728 | 42 | 30 | PMID:35444653 [p1] | |||
| 105378 |
F | 215729 | PMID:34155405 [Fam.1:II.3(p1)] | |||||
| 105379 |
M | 215730 | PMID:34155405 [Fam.2:III.2(p2)] | |||||
| 105380 |
F | 215731 | PMID:34155405 [Fam.2:III.1(p3)] | |||||
| 105630 |
M | 215824 | 39 | 1 | PMID:34694366 [Fam.1:II.2(p2)] | |||
| 105633 |
F | 215827 | 40 | 5 | PMID:34694366 [Fam.1:II.1(p3)] | |||
| 105646 |
M | 215703 | 15 | PMID:34694366 [Fam.1:I.1(p4)] |
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 |
6 (75.0%) | 0 (0.0%) | 2 (25.0%) |
| 2 | Pneumocystis jiroveci pneumonia |
4 (50.0%) | 0 (0.0%) | 4 (50.0%) |
| 3 | Lung disease |
4 (50.0%) | 0 (0.0%) | 4 (50.0%) |
| 4 | Hypogammaglobulinemia |
4 (50.0%) | 0 (0.0%) | 4 (50.0%) |
| 5 | Pneumonia |
4 (50.0%) | 0 (0.0%) | 4 (50.0%) |
| 6 | Reduced number of B cells |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 7 | (unusual) Epstein-Barr virus infection |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 8 | (unusual) Viral infection |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 9 | Sinopulmonary infections |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 10 | Splenomegaly |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 11 | Abnormal lymphoproliferation |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 12 | Unusual infection |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
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.