Information on IMD21
Basic details
Name: Immunodeficiency 21 | Acronym: IMD21
Alt. names: GATA2 deficiency
Gene: GATA2 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 1 | First reported in: 2011
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; Surveillance for myelodysplastic syndrome and related oncologic processes (eg, acute myeloid leukemia) may allow early diagnosis and treatment, which may reduce morbidity and mortality; In Emberger syndrome, early recognition and treatment of hearing impairment may improve outcomes, including speech and language development; HSCT has been described. Refs. PMIDs: 295075; 21765025; 21892162; 21892158; 22147895; 22271902; 23223431; 24227816
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.
1 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
106460 |
M | 216022 |
30 | Definitive | China | Chinese (China) | PMID:38028622 [Fam.F11:II.1(index)] |
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 | Antineutrophil antibodies |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Common variable immunodeficiency |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Autoimmunity |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Autoimmune thrombocytopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Autoimmune cytopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Autoimmune antibody positivity |
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 |
|---|---|
| Intravenous immunoglobulin therapy | Unspecified (1) for unspecified |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.