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MDA5 Deficiency

Presentation

After the fourth dose of adalimumab, the patient was admitted to our hospital presenting a worsening of skin lesions and the onset of severe myalgia and predominantly proximal muscle weakness in arms and thighs, oral ulcers, and mild cough with no other [reumatologiaclinica.org]

In fact, RNA5SP141 is not expressed in PEL, or present in RIG-I or MDA5 fRIP-seq data from PEL cells. [nature.com]

Entire Body System

  • Recurrent Infection

    These infections are most frequently caused by rhinovirus (the virus that causes the common cold). Respiratory syncytial virus (RSV) and the influenza (flu) virus may also cause recurrent infections in affected individuals. [medlineplus.gov]

Workup

[…] this subtype of dermatomyositis, with a milder or absent muscle damage and an aggressive skin and lung involvement, frequently manifested as a rapidly progressive ILD, and associated with a worse prognosis.6–9 This result also guided our diagnostic workup [reumatologiaclinica.org]

Treatment

Treatment with immunoglobulin and high-dose prednisone was then started. [reumatologiaclinica.org]

Abatacept in the treatment of adult dermatomyositis and polymyositis: a randomised, phase IIb treatment delayed-start trial. Ann Rheum Dis 2018; 77 (1): 55-62. [ Links ] 67. Furlan A, Botsios C, Ruffatti A, Todesco S, Punzi L. [scielo.cl]

Images Successful Treatment of Anti-MDA5 Dermatomyositis Associated Cutaneous Digital Pulp Ulcerations With Hyperbaric Oxygen Therapy From the San Antonio Uniformed Services Education Consortium, JBSA Fort Sam Houston, TX. [journals.lww.com]

GFP and RFP were imaged 48 h post-Dox treatment. [nature.com]

Prognosis

The role of specific antibodies is of paramount importance for the diagnosis, characterization of clinical phenotype and prognosis of idiopathic inflammatory myopathies.Ethical disclosuresProtection of human and animals subjects The authors state that [reumatologiaclinica.org]

Etiology

KSHV is the etiological agent of KS and the B cell lymphoma, primary effusion lymphoma (PEL)33,34. [nature.com]

Epidemiology

Epidemiology of adult idiopathic inflammatory myopathies in a U.S. Managed care plan. Muscle Nerve 2012; 45 (5):676-83. [ Links ] 4. Needham M, Corbett A, Day T, Christiansen F, Fabian V, Mastaglia F. [scielo.cl]

Prevention

In latency, DUSP11 removes 5′ triphosphates of vtRNAs, thus preventing their recognition by RIG-I. [nature.com]

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