Information on AGM2
Basic details
Name: Agammaglobulinemia 2 | Acronym: AGM2
Alt. names: Lambda light chain deficiency
Gene: IGLL1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1998
Last updated on: 2023-02-28 16:41:18 by
Description
An autosomal recessive form of agammaglobulinemia caused by mutations in the gene IGLL1
Management
Antiinfectious prophylaxis (including with administration of IVIG) and early and aggressive treatment of infections may be beneficial.
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 | Absence of mature B cells |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased IgA levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Decreased IgM levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Recurrent otitis media |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Abnormal T cell morphology |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
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.