Information on FHL3
Basic details
Name: Hemophagocytic Lymphohistiocytosis, familial, 3 | Acronym: FHL3
Alt. names: familial Hemophagocytic lymphohistiocytosis 3 | Munc13-4 deficiency
Gene: UNC13D | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2003
Last updated on: 2023-02-28 16:41:18 by
Description
A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. FHL3 is caused by mutations in the UNC13D gene on chromosome 17q25.1.
Management
Early recognition may allow prompt treatment, as individuals frequently have fatal outcomes unless treated by control of infectious triggers and chemoimmunotherapy, followed by HSCT.
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 | Reduced natural killer cell activity |
13 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Anemia |
12 (85.7%) | 0 (0.0%) | 2 (14.3%) |
| 3 | Granulocytopenia |
11 (78.6%) | 0 (0.0%) | 3 (21.4%) |
| 4 | Infantile onset |
6 (40.0%) | 0 (0.0%) | 9 (60.0%) |
| 5 | Juvenile onset |
5 (33.3%) | 0 (0.0%) | 10 (66.7%) |
| 6 | Neonatal onset |
2 (13.3%) | 0 (0.0%) | 13 (86.7%) |
| 7 | Childhood onset |
1 (6.7%) | 0 (0.0%) | 14 (93.3%) |
| 8 | Early young adult onset |
1 (6.7%) | 0 (0.0%) | 14 (93.3%) |
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.