Information on FHL5
Basic details
Name: Hemophagocytic lymphohistiocytosis, familial 5 | Acronym: FHL5
Alt. names: familial Hemophagocytic lymphohistiocytosis 5 | Munc18-2 deficiency
Gene: STXBP2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 1 | First reported in: 2009
Last updated on: 2023-02-28 16:41:18 by
Description
Antibiotics or antiviral agents can be beneficial to treat/prevent infections that can trigger an exaggerated inflammatory response. Chemo/immunotherapy can achieve clinical stability prior to allogeneic hematopoietic cell transplantation (HCT), the only curative therapy.. Refs. PMIDs: 19804848; 19884660; 20798128
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.
1 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
107225 |
M | 216381 | 0 | 0 | Definitive | Japan | SouthEast Asian | PMID:36503158 [Patient(III.3)] |
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 | Infantile onset |
8 (61.5%) | 0 (0.0%) | 5 (38.5%) |
| 2 | Childhood onset |
6 (42.9%) | 0 (0.0%) | 8 (57.1%) |
| 3 | Interstitial lung disease |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Anemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Colitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Hypogammaglobulinemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Fever |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Low-frequency sensorineural hearing impairment |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Lymphadenopathy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Recurrent sinusitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Recurrent upper respiratory tract infection |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Splenomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Thrombocytopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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.