Neonatal-onset multisystem inflammatory disease

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Neonatal-onset multisystem inflammatory disease (pronounced: nee-oh-NAY-tuhl ON-set MUL-tee-sis-tem in-flam-MA-tory dis-EASE), often abbreviated as NOMID, is a rare genetic disorder that affects multiple systems of the body and is present from birth.

Etymology

The term "Neonatal-onset multisystem inflammatory disease" is derived from the Latin words 'neonatus' meaning 'newborn', 'multus' meaning 'many', 'systema' meaning 'combined', 'inflammatio' meaning 'inflammation', and 'disease' from the Old French 'desaise' meaning 'lack of ease'.

Definition

NOMID is a severe form of CAPS (Cryopyrin-Associated Periodic Syndromes), a group of autoinflammatory diseases. It is characterized by fever, skin rash, joint pain, and inflammation in various parts of the body including the nervous system and sensory organs.

Symptoms

The symptoms of NOMID are usually noticeable from birth and may include skin rash, chronic meningitis, significant hearing and vision loss, and skeletal abnormalities.

Causes

NOMID is caused by mutations in the NLRP3 gene, which is involved in the production of a protein that helps the body's immune system respond to infections and injuries.

Treatment

Treatment for NOMID often involves managing symptoms and preventing complications. This may include anti-inflammatory medications, corticosteroids, and targeted therapies such as Canakinumab and Anakinra.

Related Terms

External links

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