Information on SAIDX
Basic details
Name: X-linked systemic autoinflammatory disease | Acronym: SAIDX
Alt. names:
Gene: IKBKG | MOI: X-linked | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2020
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
It is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature (de Jesus et al., 2020 and Lee et al., 2022).[OMIM]
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 | Reduced number of B cells |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Anterior uveitis |
3 (42.9%) | 0 (0.0%) | 4 (57.1%) |
| 3 | Cerebral hemorrhage |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Decreased IgG levels |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 5 | Hypogammaglobulinemia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Hepatosplenomegaly |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Infantile onset |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Panniculitis |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Decreased IgM levels |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 10 | Chorioretinitis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 11 | Absent ab-response to pneumococcal polysaccharide vaccine |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 12 | Conical tooth |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 13 | Neutropenia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 14 | Optic neuritis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 15 | Osteomyelitis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 16 | Panuveitis |
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.