Purine Nucleoside Phosphorylase DeficiencySymptoms, Doctors, Treatments, Advances & More
Learn About Purine Nucleoside Phosphorylase Deficiency
Purine nucleoside phosphorylase deficiency is a disorder of the immune system called an immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses.
Purine nucleoside phosphorylase deficiency is caused by mutations in the PNP gene. The PNP gene provides instructions for making an enzyme called purine nucleoside phosphorylase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes, which include T cells and B cells. Lymphocytes are produced in specialized lymphoid tissues, including the thymus and lymph nodes, and then released into the blood. The thymus is a gland located behind the breastbone; lymph nodes are found throughout the body. Lymphocytes in the blood and in lymphoid tissues are a major component of the immune system.
Purine nucleoside phosphorylase deficiency is rare; only about 70 affected individuals have been described in the medical literature. This disorder accounts for approximately 4 percent of all SCID cases.
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.
Giancarlo La Marca practices practicing medicine in Florence, Italy. Mr. La Marca is rated as an Elite expert by MediFind in the treatment of Purine Nucleoside Phosphorylase Deficiency. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Purine Nucleoside Phosphorylase Deficiency, Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidoses (MPS), and Severe Combined Immunodeficiency (SCID).
Andrew Gennery practices practicing medicine in Newcastle Upon Tyne, United Kingdom. Mr. Gennery is rated as a Distinguished expert by MediFind in the treatment of Purine Nucleoside Phosphorylase Deficiency. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Severe Combined Immunodeficiency (SCID), Primary Immunodeficiency (PID), Chronic Granulomatous Disease, Bone Marrow Transplant, and Heart Transplant.
Chiara Azzari practices practicing medicine in Florence, Italy. Ms. Azzari is rated as a Distinguished expert by MediFind in the treatment of Purine Nucleoside Phosphorylase Deficiency. She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Primary Immunodeficiency (PID), Purine Nucleoside Phosphorylase Deficiency, Strep Throat, Splenectomy, and Lung Transplant.
Summary: The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.
Published Date: April 01, 2019
Published By: National Institutes of Health