Information on AGM1
Name: Agammaglobulinemia 1 | Acronym: AGM1
Alt. names: Heavy chain deficiency
Gene: IGHM | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1996
Last updated on: 2023-05-17 17:13:47 by
Description
An autosomal recessive form of agammaglobulinemia caused by mutations in the gene IGHM.
Management
Antiinfectious prophylaxis (including with administration of IVIG) and early and aggressive treatment of infections may be beneficial. Refs.
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 | Infantile onset |
12 (63.2%) | 0 (0.0%) | 7 (36.8%) |
| 2 | Recurrent pneumonia |
10 (52.6%) | 0 (0.0%) | 9 (47.4%) |
| 3 | Recurrent enteroviral infections |
9 (34.6%) | 0 (0.0%) | 17 (65.4%) |
| 4 | Reduced number of B cells |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Childhood onset |
7 (36.8%) | 0 (0.0%) | 12 (63.2%) |
| 6 | Hypogammaglobulinemia |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Panhypogammaglobulinemia |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Neutropenia |
6 (31.6%) | 0 (0.0%) | 13 (68.4%) |
| 9 | Chronic diarrhea |
4 (21.1%) | 0 (0.0%) | 15 (79.0%) |
| 10 | Failure to thrive |
4 (21.1%) | 0 (0.0%) | 15 (79.0%) |
| 11 | Bronchiectasis |
3 (15.8%) | 0 (0.0%) | 16 (84.2%) |
| 12 | Conjunctivitis |
3 (15.8%) | 0 (0.0%) | 16 (84.2%) |
| 13 | Recurrent sinusitis |
3 (15.8%) | 0 (0.0%) | 16 (84.2%) |
| 14 | Recurrent otitis media |
2 (28.6%) | 0 (0.0%) | 5 (71.4%) |
| 15 | Agammaglobulinemia |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 16 | Rectal abscess |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
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).