scholarly journals PSMB8 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Psmb8 Gene

scholarly journals Involvement of the IFN-gamma pathway in a patient with candle syndrome carrying a novel variant of PSMB8 gene

2014 ◽  
Vol 12 (S1) ◽  
Author(s):  
Antonella Insalaco ◽  
Giusi Prencipe ◽  
Manuela Pardeo ◽  
Virginia Messia ◽  
Andrea Masotti ◽  
...  
Keyword(s):  
Ifn Gamma ◽  
Novel Variant ◽  
Psmb8 Gene

scholarly journals CANDLE Syndrome: Case Report of a Rare Type of Auto- Inflammatory Disease

2021 ◽  
Vol 44 (3) ◽  
pp. 174-177
Author(s):  
Md Asif Ali ◽  
Mohammad Imnul Islam ◽  
Shahana Akhtar Rahman
Keyword(s):  
Case Report ◽  
Autoinflammatory Disease ◽  
Failure To Thrive ◽  
Skin Lesions ◽  
Recurrent Fever ◽  
Rare Type ◽  
Auto Inflammatory Disease ◽  
Laboratory Investigations ◽  
Generalized Lymphadenopathy ◽  
Psmb8 Gene

CANDLE syndrome (chronic atypical neutophilic dermatosis with lipodystrophy and elevated temperature) is an autoinflammatory disease/syndrome characterized by recurrent fever, skin lesions, and multisystem inflammatory manifestations. Most of the patients have shown mutation in PSMB8 gene. Here, we report a 9-year-old girl with recurrent fever, atypical facies, widespread skin lesions, generalized lymphadenopathy, hepato-splenomegaly, lipodystrophy, and failure to thrive. Considering the clinical features and laboratory investigations including skin biopsy findings, diagnosis was consistent with CANDLE syndrome. Therefore, it is recommended to consider CANDLE syndrome in a young child who presents with recurrent fever, characteristics rashes, organomegaly and failure to thrive. Bangladesh J Child Health 2020; VOL 44 (3) :174-177

scholarly journals Long-Lived Dichotomous Lineages of the Proteasome Subunit Beta Type 8 (PSMB8) Gene Surviving More than 500 Million Years as Alleles or Paralogs

2012 ◽  
Vol 29 (10) ◽  
pp. 3071-3079 ◽  
Author(s):  
Kentaro Tsukamoto ◽  
Fumi Miura ◽  
Naoko T. Fujito ◽  
Goro Yoshizaki ◽  
Masaru Nonaka
Keyword(s):  
Proteasome Subunit ◽  
Psmb8 Gene

A homozygous mutation in the PSMB8 gene in a case with proteasome-associated autoinflammatory syndrome

2017 ◽  
Vol 47 (3) ◽  
pp. 251-254 ◽  
Author(s):  
C Contreras-Cubas ◽  
A Cárdenas-Conejo ◽  
A Rodríguez-Velasco ◽  
H García-Ortiz ◽  
L Orozco ◽  
...  
Keyword(s):  
Homozygous Mutation ◽  
Autoinflammatory Syndrome ◽  
Psmb8 Gene
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