Information on AGM4
Basic details
Name: Agammaglobulinemia 4 | Acronym: AGM4
Alt. names: BLNK deficiency
Gene: BLNK | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 2 | First reported in: 1999
Last updated on: 2023-02-28 16:41:18 by
Description
An autosomal recessive form of agammaglobulinemia caused by biallelic loss of function mutations in the gene BLNK. Individuals can have frequent and severe infections, including reports of lethal bacterial sepsis due to the agammaglobulinemia.
Management
Antiinfectious prophylaxis (IVIG has been reported to be beneficial) and early and aggressive treatment of infections may be beneficial.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
2 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
101712 |
M | 212643 | 10 | Jordanian | PMID:25893637 [P1(II.6)] | |||
| 101713 |
F | 212643 | 14 | Jordanian | PMID:25893637 [Fam.P1:II.5(P2)] |
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 | Otitis media |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Dermatitis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 3 | Arthralgia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 4 | (unusual) Respiratory tract infection |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 5 | Reduced number of B cells |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 6 | Enteropathy |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 7 | Diarrhea |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 8 | edema |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 9 | Arthritis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 10 | Cough |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
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.