Information on AGM6

Basic details

Name: Agammaglobulinemia 6 | Acronym: AGM6
Alt. names: CD79B deficiency

Gene: CD79B | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2007

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

OMIM: 612692

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

An autosomal recessive form of agammaglobulinemia caused by mutations in the gene CD79B.

Management

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.

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 Reduced number of B cellsarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
2 Decreased IgA levelsarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
3 Decreased IgG levelsarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
4 Decreased IgM levelsarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
5 Infantile onsetarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
6 Recurrent bronchitisarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
7 Chronic sinusitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
8 Conjunctivitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
9 Diarrheaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
10 repeated bacterial infectionsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
11 Recurrent otitis mediaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
12 Recurrent pneumoniaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
13 Abnormal T cell morphologyarrow icon 0 (0.0%) 0 (0.0%) 1 (99.9%)

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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.