Nakajo-Nishimura SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Nakajo-Nishimura Syndrome
Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers; and elongated fingers and toes with widened and rounded tips (clubbing).
Nakajo-Nishimura syndrome is caused by mutations in the PSMB8 gene. This gene provides instructions for making one part (subunit) of specialized cell structures called immunoproteasomes, which are found primarily in immune system cells. Immunoproteasomes play an important role in regulating the immune system's response to foreign invaders, such as viruses and bacteria. One of the primary functions of immunoproteasomes is to help the immune system distinguish the body's own proteins from proteins made by foreign invaders, so the immune system can respond appropriately to infection.
Nakajo-Nishimura syndrome appears to be rare and has been described only in the Japanese population. About 30 cases have been reported in the medical literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
ETSU Physicians & Associates- Pediatric Surgery
Lesli Taylor is a Pediatric Surgeon practicing medicine in Johnson City, Tennessee. Dr. Taylor is rated as an Experienced provider by MediFind in the treatment of Nakajo-Nishimura Syndrome. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Infantile Pyloric Stenosis, Pilonidal Sinus Disease, Retroperitoneal Inflammation, and Undescended Testicle. Dr. Taylor is board certified in American Board Of Surgery.
SOFHA Surgical Group
Michael Hodge is a General Surgeon practicing medicine in Johnson City, Tennessee. Dr. Hodge is rated as an Experienced provider by MediFind in the treatment of Nakajo-Nishimura Syndrome. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Hernia, Gallbladder Disease, Cholecystitis, Colostomy, and Gastrostomy. Dr. Hodge is board certified in American Board Of Surgery.
John Geisse is a Dermatologist practicing medicine in Vallejo, California. Dr. Geisse is rated as a Distinguished provider by MediFind in the treatment of Nakajo-Nishimura Syndrome. He is also highly rated in 72 other conditions, according to our data. His clinical expertise encompasses Squamous Cell Skin Carcinoma, Basal Cell Skin Cancer, Bazex Syndrome, and Hereditary Mucoepithelial Dysplasia. Dr. Geisse is currently accepting new patients.
Published Date: November 01, 2013
Published By: National Institutes of Health
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