Information on PRAAS2

Basic details

Name: Proteasome-associated autoinflammatory syndrome 2 | Acronym: PRAAS2
Alt. names:

Gene: POMP | MOI: Autosomal dominant | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2010

Last updated on: 2023-02-28 16:41:18 by

OMIM: 618048

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Individuals have been described with recurrent infections, and awareness may allow preventative measures and early and aggressive treatment of infections; HSCT has been described. Refs. PMIDs: 12022327; 20226437; 26524591; 29805043

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 Antinuclear antibodiesarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
2 Abnormal circulating IgM levelarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
3 Anti-beta-2-Glycoprotein I IgG antibody positivityarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
4 Anti-thyroglobulin antibody positivityarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
5 Reduced number of B cellsarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
6 Decreased proportion of memory B cellsarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
7 Increased CD4:CD8 ratioarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
8 Increased IgA levelsarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
9 Increased IgG levelarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
10 Neonatal onsetarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
11 Neutrophilic infiltration of the skinarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
12 repeated bacterial infectionsarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
13 Recurrent viral infectionsarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
14 Skin rasharrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
15 Thrombocytopeniaarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
16 Annular cutaneous lesionarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
17 anti-TPO antibodiesarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
18 Arthralgiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
19 Congenital onsetarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
20 Elevated C-reactive proteinarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
21 elevated ESRarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
22 Feverarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
23 Lipodystrophyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
24 Seizuresarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
25 Subcutaneous nodulearrow icon 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.