Information on AGM8A
Basic details
Name: Agammaglobulinemia 8A | Acronym: AGM8A
Alt. names: E47 deficiency | E47 transcription factor deficiency
Gene: TCF3 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 2 | First reported in: 2013
Last updated on: 2023-02-28 16:41:18 by
Description
A form of agammaglobulinemia that can be caused by biallelic loss of function mutations or monoallelic gain of function mutations in the gene TCF3. Individuals have been described with severe and recurrent infections.
Management
Awareness may allow prompt diagnosis and early and aggressive treatment of infections.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
2 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
106610 |
F | 216089 |
61 | Definitive | Australia | Australian | PMID:30323807 [Fam.1:II.2(II.2)]; PMID:30323807 [Fam.1:II.2(II.2)]; PMID:29114388 [Fam.A:II.2(II.2)]; PMID:29114388 [Fam.A:II.2(II.2)] | |
| 106616 |
M | 216089 |
35 | Australia | Australian | PMID:30323807 [Fam.1:III.1(III.1)]; PMID:29114388 [Fam.A:III.1(III.1)] |
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 | Decreased proportion of switched memory B cells |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Sinusitis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Reduced ab-response to tetanus vaccine |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | negative ab-response to diphtheria vaccine |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Autoimmunity |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Decreased IgA levels |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 7 | Decreased IgG levels |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 8 | (unusual) Respiratory tract infection |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 9 | Type I diabetes mellitus |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 10 | Endocrine system abnormality |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 11 | Meningitis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 12 | Autoimmune thyroiditis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 13 | Hypogammaglobulinemia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 14 | Synovitis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 15 | Tonsillitis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 16 | Systemic lupus erythematosus |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 17 | Infection of the gastrointestinal tract |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
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 | Negative/Bad (1) for Hypogammaglobulinemia |
| Subcutaneous Immunoglobulin infusions | Unspecified (1) for Hypogammaglobulinemia |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.