Information on TBK1D

Basic details

Name: Autoinflammation due to TBK1 deficiency | Acronym: TBK1D
Alt. names: Autoinflammation with arthritis and vasculitis

Gene: TBK1 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2021

Last updated on: 2023-05-25 05:45:06 by Andrés Caballero-Oteyza

OMIM: 620880

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

It is characterized by chronic systemic autoinflammation (polyarthritis, vasculitis, rash); delayed neurocognitive development. The autoinflammation is driven by TNF-induced RIPK1-dependent cell death and it affects all leukocytes. https://pubmed.ncbi.nlm.nih.gov/34363755/

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 Autoimmunityarrow icon 4 (99.9%) 0 (0.0%) 0 (0.0%)
2 Infantile onsetarrow icon 4 (99.9%) 0 (0.0%) 0 (0.0%)
3 Arthritisarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
4 Microcytic anemiaarrow icon 3 (75.0%) 0 (0.0%) 1 (25.0%)
5 Recurrent feversarrow icon 3 (75.0%) 0 (0.0%) 1 (25.0%)
6 Seizuresarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
7 Disproportionate short-limb short staturearrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
8 Feeding difficultiesarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
9 Global developmental delayarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
10 Intellectual disability, mildarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
11 Recurrent tonsillitisarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
12 Abdominal painarrow icon 1 (25.0%) 0 (0.0%) 3 (75.0%)
13 Celiac diseasearrow icon 1 (25.0%) 0 (0.0%) 3 (75.0%)
14 Cerebral infarctarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
15 Conjunctivitisarrow icon 1 (25.0%) 0 (0.0%) 3 (75.0%)
16 Exanthemarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
17 Dermatitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
18 Leukocytoclastic Vasculitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
19 Lymphadenopathyarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
20 Motor delayarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
21 Nephrotic syndromearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
22 Osteomyelitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
23 Recurrent sinusitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
24 Recurrent urinary tract infectionsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
25 short staturearrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
26 Status epilepticusarrow icon 1 (25.0%) 0 (0.0%) 3 (75.0%)
27 Thrombocytosisarrow icon 1 (25.0%) 0 (0.0%) 3 (75.0%)
28 Vasculitisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
29 Vasculitis in the skinarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
30 Ventriculomegalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
31 Villous atrophyarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
32 Brain atrophyarrow icon 0 (0.0%) 0 (0.0%) 1 (99.9%)
33 Delayed speech and language developmentarrow icon 0 (0.0%) 0 (0.0%) 1 (99.9%)
34 Herpes simplex encephalitisarrow icon 0 (0.0%) 0 (0.0%) 1 (99.9%)
35 Immunodeficiencyarrow icon 0 (0.0%) 0 (0.0%) 4 (99.9%)
36 Visceromegalyarrow icon 0 (0.0%) 0 (0.0%) 4 (99.9%)

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.