Information on AGM3

Basic details

Name: Agammaglobulinemia 3 | Acronym: AGM3
Alt. names: CD79A deficiency | Ig-alfa deficiency

Gene: CD79A | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 1999

Last updated on: 2023-02-28 16:41:18 by

Orphanet: -

MONDO: -

DOID: -

ClinGen:

An autosomal recessive form of agammaglobulinemia caused by mutations in the gene CD79A

Antiinfectious prophylaxis 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.

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).

[Considering only Definitive and Possible cases]

Rank	Clinical term	Present	Unreported
1	Absence of mature B cells	1 (99.9%)	0 (0.0%)
2	Absent isohemagglutinin level	1 (99.9%)	0 (0.0%)
3	Agammaglobulinemia	1 (99.9%)	0 (0.0%)
4	Diarrhea	1 (99.9%)	0 (0.0%)
5	Failure to thrive	1 (99.9%)	0 (0.0%)
6	Infantile onset	1 (99.9%)	0 (0.0%)
7	Neonatal onset	1 (99.9%)	0 (0.0%)
8	Neutropenia	1 (99.9%)	0 (0.0%)
9	repeated bacterial infections	1 (99.9%)	0 (0.0%)
10	Recurrent bronchitis	1 (99.9%)	0 (0.0%)
11	Recurrent lower respiratory tract infections	1 (99.9%)	0 (0.0%)
12	Recurrent otitis media	1 (99.9%)	0 (0.0%)
13	Abnormal T cell morphology	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.

[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.