Information on IMD76
Basic details
Name: Immunodeficiency 76 | Acronym: IMD76
Alt. names: FCHO1 deficiency PAX1
Gene: FCHO1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2019
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
It is clinically characterized by recurrent bacterial, mycobacterial, viral, and fungal infections presenting since early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. Some individuals have been reported to also have lymphomas and neurologic features or failure to thrive. Functional studies show increased activation-induced T-cell death and defective clathrin-mediated endocytosis.
Management
Bone marrow transplantation may be curative, though many patients die in childhood.
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 | Lymphopenia |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Recurrent pneumonia |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Reduced T cell count |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Death in childhood |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 5 | Growth delay |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 6 | Infantile onset |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 7 | Lymphadenopathy |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 8 | Splenomegaly |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 9 | Childhood onset |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 10 | Chronic diarrhea |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 11 | Recurrent bronchiolitis |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 12 | Reduced number of B cells |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 13 | B-cell lymphoma |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 14 | Colitis |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
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.