Information on AGM7
Basic details
Name: Agammaglobulinemia 7 | Acronym: AGM7
Alt. names: p85 deficiency
Gene: PIK3R1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2012
Last updated on: 2023-02-28 16:41:18 by
Description
An autosomal recessive form of agammaglobulinemia caused by mutations in the gene PIK3R1. Individuals may demonstrate susceptibility to severe infections (in addition to autoimmune-type sequelae in some conditions).
Management
Prophylactic measures (eg, including IVIG administration), as well as early and aggressive treatment of infections, has been reported as being beneficial.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
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 | erythema nodosum |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Neutropenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Panhypogammaglobulinemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Recurrent infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Reduced NK cell number |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Abnormal T cell morphology |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.