Autoinflammatory Disorders
Gene: PSMB8
This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anaemia.
This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anaemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE).
More than 10 molecularly confirmed cases reported. Digenic inheritance has been proposed in some individuals with variants in other PSMB genes.Created: 27 Apr 2021, 11:14 p.m. | Last Modified: 27 Apr 2021, 11:14 p.m.
Panel Version: 0.103
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; MONDO:0054698
Publications
Gene: psmb8 has been classified as Green List (High Evidence).
Phenotypes for gene: PSMB8 were changed from to Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; MONDO:0054698
Publications for gene: PSMB8 were set to
Mode of inheritance for gene: PSMB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: PSMB8 was added gene: PSMB8 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: PSMB8 was set to Unknown