Information on AGM15
Basic details
Name: Agammaglobulinemia 15 | Acronym: AGM15
Alt. names: FNIP1 deficiency | Immunodeficiency 93 and hypertrophic cardiomyopathy | IMD93
Gene: FNIP1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2020
Last updated on: 2023-02-28 17:23:57 by Andrés Caballero-Oteyza
Description
At least 2 studies have reported individuals with this condition (PMID:32905580,32181500). Patients present with early onset recurrent infections, bronchiectasis, fibrosis, interstitial pneumoniae, neutropenia (severe or intermittent), congenital heart defects, muscular hypotonia, and developmental delay. Only patient was reported to have Crohn disease.
Management
Description of management option has not been reviewed yet.
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 | Hypertrophic cardiomyopathy |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Absence of mature B cells |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Agammaglobulinemia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Delayed fine motor development |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Delayed gross motor development |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Infantile onset |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Appendicular hypotonia |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 8 | Reduced number of B cells |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 9 | Broad-based gait |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 10 | Decreased IgG levels |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 11 | Decreased IgM levels |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 12 | Decreased proportion of switched memory B cells |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 13 | Neutropenia |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 14 | Wolff-Parkinson-White syndrome |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 15 | Bronchial wall thickening |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 16 | Bronchiectasis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 17 | Crohn's disease |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 18 | Global developmental delay |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 19 | Right ventricular dilatation |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 20 | Tricuspid Valve Insufficiency |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
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.