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.
OSF Saint Katharine - Center For Health - General Surgery
Matthew Hefty is a General Surgeon practicing medicine in Sterling, Illinois. Dr. Hefty is rated as an Experienced provider by MediFind in the treatment of Nakajo-Nishimura Syndrome. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Gallbladder Disease, Cholecystitis, Pilonidal Sinus Disease, Small Bowel Resection, and Colostomy. Dr. Hefty is board certified in American Board Of Surgery.
Avera Dermatology — Pierre
Dr. (Joyce) Wesley Fletcher is a dermatologist at Avera Medical Group in Pierre, located in the Helmsley Center at Avera St. Mary's Hospital. Dr. Fletcher is rated as an Experienced provider by MediFind in the treatment of Nakajo-Nishimura Syndrome. She is also highly rated in 35 other conditions, according to our data. Her clinical expertise encompasses Familial Atypical Multiple Mole Melanoma Syndrome, Giant Congenital Melanocytic Nevus, Giant Congenital Nevus, and Neurocutaneous Melanosis.
St. Peter's General Surgery - Suite 308
Barbara Brazis is a General Surgeon practicing medicine in Albany, New York. She has been practicing medicine for over 35 years. Dr. Brazis is rated as an Experienced provider by MediFind in the treatment of Nakajo-Nishimura Syndrome. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Umbilical Hernia, Breast Cancer, Hernia, Hernia Surgery, and Ileostomy. Dr. Brazis is board certified in American Board Of Surgery, General. Dr. Brazis is currently accepting new patients.
Published Date: November 01, 2013
Published By: National Institutes of Health
There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.