Pignata Guarino SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Pignata Guarino Syndrome
T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune cells called T cells, which normally recognize and attack foreign invaders to prevent infection. Without functional T cells, affected individuals develop repeated and persistent infections starting early in life. The infections result in slow growth and can be life-threatening; without effective treatment, most affected individuals live only into infancy or early childhood.
T-cell immunodeficiency, congenital alopecia, and nail dystrophy results from mutations in the FOXN1 gene. This gene provides instructions for making a protein that is important for development of the skin, hair, nails, and immune system. Studies suggest that this protein helps guide the formation of hair follicles and the growth of fingernails and toenails. The FOXN1 protein also plays a critical role in the formation of the thymus, which is a gland located behind the breastbone where T cells mature and become functional. Researchers suspect that the FOXN1 protein is also involved in the development of the central nervous system, although its role is unclear.
T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a rare disorder. It has been diagnosed in only a few individuals, almost all of whom are members of a large extended family from a community in southern Italy.
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. However, some people who carry one copy of a mutated FOXN1 gene have abnormal fingernails or toenails.
Dallas Nephrology Associates
Hassan Ibrahim is a Nephrologist practicing medicine in Dallas, Texas. Dr. Ibrahim is rated as a Distinguished provider by MediFind in the treatment of Pignata Guarino Syndrome. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Pignata Guarino Syndrome, Chronic Kidney Disease, End-Stage Renal Disease (ESRD), Kidney Transplant, and Nephrectomy. Dr. Ibrahim is board certified in Internal Medicine- American Board Of Internal Medicine.
D. Ryan Hall, MD, earned his medical degree from the University of Oklahoma College of Medicine in Oklahoma City before pursuing a general surgery residency at East Tennessee State University in Johnson City, Tenn., where he garnered numerous teaching awards, including the Leonard Tow Humanism in Medicine Award. After residency he completed an abdominal organ transplant surgery fellowship at the University of Tennessee College of Medicine in Memphis. A member of the faculty of McGovern Medical School at UTHealth Houston since 2015, Dr. Hall continues to be heavily involved in medical education and serves on multiple committees at Memorial Hermann and the medical school. His efforts have resulted in numerous awards and publications, including the Benjy F. Brooks, MD, Outstanding Clinical Faculty Award in 2019. Additionally, he is an associate program director for UTHealth Houston’s general surgery residency. Dr. Hall’s primary clinical interest is in minimally invasive surgery of the liver, bile ducts and pancreas. His training and experience allows for robotic resection of hepatobiliary and pancreas malignancies when indicated. He is a husband, a father of three children and enjoys golf, hunting and endurance sports in his leisure time. Dr. Hall is rated as a Distinguished provider by MediFind in the treatment of Pignata Guarino Syndrome. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Pignata Guarino Syndrome, Chronic Antibody-Mediated Rejection, Hepatic Ischemia, Kidney Transplant, and Simultaneous Pancreas Kidney Transplant.
Corewell Health Allergy And Immunology - Summit Park
Nicholas Hartog is a Pediatric Allergy and Immunologist and an Allergy and Immunologist practicing medicine in Grand Rapids, Michigan. He has been practicing medicine for over 15 years. Dr. Hartog is rated as an Advanced provider by MediFind in the treatment of Pignata Guarino Syndrome. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Primary Immunodeficiency (PID), Common Variable Immune Deficiency, Adenosine Deaminase Deficiency, and Severe Combined Immunodeficiency (SCID). Dr. Hartog is board certified in American Board Of Allergy And Immunology and American Board Of Internal Medicine. Dr. Hartog is currently accepting new patients.
Published Date: August 01, 2014
Published By: National Institutes of Health