Information on PRAAS4

Basic details

Name: Proteasome-associated autoinflammatory syndrome 4 | Acronym: PRAAS4
Alt. names: CANDLE

Gene: PSMG2 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2019

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

OMIM: 619183

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

It is characterized by onset of panniculitis and erythematous skin lesions in early infancy. Additional features include hepatosplenomegaly, lymphadenopathy, fever, generalized lipodystrophy, myositis, and joint contractures, as well as delayed motor and speech development. Autoimmune features, such as hemolytic anemia, may also occur. Laboratory studies show elevation of acute phase reactants and abnormal activation of the type I interferon response.[OMIM]

Management

Treatment with the JAK inhibitor ruxolitinib may result in clinical improvement.

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 Acute phase responsearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
2 Autoimmune hemolytic anemiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
3 Basal ganglia calcificationarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
4 Delayed speech and language developmentarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
5 edemaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
6 Erythemaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
7 Flexion contracturearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
8 Generalized lipodystrophyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
9 Hepatomegalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
10 Infantile onsetarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
11 Lymphadenopathyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
12 Motor delayarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
13 Myositisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
14 Panniculitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
15 Recurrent feversarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
16 Skeletal muscle atrophyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
17 Splenomegalyarrow 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.