Information on JUVAR
Basic details
Name: Juvenile arthritis | Acronym: JUVAR
Alt. names: LACC1 deficiency
Gene: LACC1 | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2015
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
It is characterized by onset in early childhood of symmetric arthritis in multiple joints, associated with a marked increase in inflammatory markers. Some patients exhibit systemic symptoms, including quotidian fever, erythematous rash, generalized lymphadenopathy, hepatomegaly, and/or splenomegaly. There is high clinical variability, even within the same family (Karacan et al., 2018).[source:OMIM]
Management
Individuals have been described as benefiting from specific medications (with non-efficacy of other medications), and knowledge may help with medication selection. The condition may involve increased risk of malignancy, and awareness may allow prompt diagnosis and management. BMT has been described.
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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 | Leukocytosis |
13 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Periodic fever |
13 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Quotidian fever |
13 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Thrombocytosis |
13 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Antinuclear antibodies |
8 (61.5%) | 0 (0.0%) | 5 (38.5%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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