Case presentation We presented a sporadic case of NNS with compound heterozygous mutations in the PSMB8 gene. [springermedizin.de]

Monogenic IFN‐mediated autoinflammatory diseases present in infancy with systemic inflammation, an IFN response gene… BackgroundCurrent multi-petaflop supercomputers are powerful systems, but present challenges when faced with problems requiring… The [semanticscholar.org]

Patients first present with recurrent fevers that begin in infancy, and occur almost daily. They also have delayed physical development, purpuric skin rash, and unique facial features. [autoinflammatory.org]

[…] when at least 3 of the 5 traits are present, and affected individuals typically are insulin resistant. [ahajournals.org]

• Poor Growth

  Other features included poor overall growth, lymphadenopathy, hepatosplenomegaly, myositis, arthritis/arthralgias, recurrent infections, joint contractures, and lipodystrophy. [altmeyers.org]

• Eczema

  […] type 2 atelosteogenesis type 3 atelosteogenesis type I, see atelosteogenesis type 1 atelosteogenesis type III, see atelosteogenesis type 3 atelosteogenesis, type 2, see atelosteogenesis type 2 ATM, see ataxia-telangiectasia atopic dermatitis atopic eczema [mygenomics.com]

  Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy Growth Mental Deficiency Syndrome of Myhre GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY Growth Retardation, Small and Puffy Hands and Feet, and Eczema [rgd.mcw.edu]

• Arthralgia

  Other features included poor overall growth, lymphadenopathy, hepatosplenomegaly, myositis, arthritis/arthralgias, recurrent infections, joint contractures, and lipodystrophy. [altmeyers.org]

  Patients with CANDLE can also have conjunctivitis, arthralgia without arthritis, nodular episcleritis (irritation and inflammation on the tissue covering the white part of the eye), chondritis of the ear and nose (inflamed cartilage), episodes of asceptic [autoinflammatory.org]

  Arthralgia without arthritis is also noted in most patients and significant joint contractures develop over time. [printo.it]

  arthralgia, urticaria, neurological problems, severe amyloidosis NALP3 overactive yes Faniilial Mediterranean fever (FMF) Fever, peritonitds, pleuritis, amyloidosis Pyrin overactive partial ryogenic artnritls, pyoderma ga ngrenosum, and acne syndrome [archive.org]

• Fibrinoid Necrosis

  Leukocytoclasia is often seen, without fibrinoid necrosis of the vessels (1, 27). [frontiersin.org]

The treatment for Nakajo-Nishimura syndrome has not been established. Inflammatory attacks can temporarily respond to the oral administration of high-dose corticosteroid. [jdsjournal.com]

These treatments are all ineffective in halting lipodystrophy progression. Prognosis Although some of the symptoms of NNS can be lessened with treatment, the prognosis remains relatively poor. [rareguru.com]

These treatments are all ineffective in halting lipodystrophy progression. [checkorphan.org]

Treatment and prognosis of PRAASs There are no gold standard treatment protocols for NNS and other PRAASs, but systemic corticosteroid treatment is usually used (daily prednisolone equivalent dose of 1–2 mg/kg for children, 0.4–1 mg/kg for adults, maintain [dovepress.com]

Prognosis Although some of the symptoms of NNS can be lessened with treatment, the prognosis remains relatively poor. Some may die from sudden cardiac failure, probably due to lung insufficiency. Visit the Orphanet disease page for more resources. [rareguru.com]

Prognosis Although some of the symptoms of NNS can be lessened with treatment, the prognosis remains relatively poor. Some may die from sudden cardiac failure, probably due to lung insufficiency. [checkorphan.org]

Prognosis of PRAASs including NNS varies from patient to patient. Some die in infancy, but many grow to adulthood. Many of the adult cases develop severe lipodystrophy. [dovepress.com]

Etiology NNS is due to a mutation in the PSMB8 gene (6p21.3) encoding the beta5i subunit of immunoproteasome. To date, all examined Japanese patients show the same homozygous c.602G>T (Gly201Val) mutation with a founder effect. [rareguru.com]

Discusses new studies examining potential etiologies for the increase in food allergy and examines potential immunotherapeutic strategies for treating food allergies. [books.google.es]

Etiology No specific cause or risk factor has been elucidated for progressive lipodystrophy. Some reports have shown a correlation of progressive lipodystrophy with prior acute viral or bacterial infection. [emedicine.medscape.com]

Clinically, each CGS is characterized by a specific and complex phenotype, which was recognized in most cases as a genetic syndrome before knowledge of their cytogenetic etiology. [ommbid.mhmedical.com]

Epidemiology The prevalence is unknown. In Japan, 30 cases have been identified to date. [rareguru.com]

Summary Epidemiology The prevalence is unknown. In Japan, 30 cases have been identified to date. [orpha.net]

Ultimately, the progressive lipodystrophy caused by Nakajo syndrome continues despite treatment.[8] Epidemiology[edit] Two affected siblings reported by Tanaka were born from a consanguineous marriage.[9] Though a majority of cases originate in Japan, [en.wikipedia.org]

In this review, the history, characteristics, and the pathophysiological mechanism of PRAASs will be discussed, focusing mainly on NNS. [tandfonline.com]

Conclusions The current PSC models revealed a specific ROS-mediated inflammatory pathway and provide a platform for studying the pathophysiology of NNS and searching for the alternative therapeutic options for NNS and related immunoproteasome disorders [ard.bmj.com]

This Review describes the genetic pathophysiology of the four main forms of CGL and makes recommendations for their appropriate diagnosis and management. [scinapse.io]

Lipodystrophy: pathophysiology and advances in treatment. Nat Rev Endocrinol. 2011;7:137–150. doi:10.1038/nrendo.2010.199 12. Crow YJ, Rehwinkel J. Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. [dovepress.com]

Prevention NNS is inherited in an autosomal recessive manner and genetic counseling is possible. Prenatal diagnosis is possible but has never been performed. [checkorphan.org]

Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [medlineplus.gov]

Early therapy to prevent disabling manifestations is desirable, but still no agent has been truly effective. Prevention and treatment of acute inflammatory attacks will permit longer life expectancy in these patients. [frontiersin.org]