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.
Claudio Pignata practices in Napoli, Italy. Pignata is rated as a Distinguished expert by MediFind in the treatment of Pignata Guarino Syndrome. He is also highly rated in 29 other conditions, according to our data. His top areas of expertise are Pignata Guarino Syndrome, Primary Immunodeficiency (PID), Ataxia-Telangiectasia, Bone Marrow Transplant, and Hormone Replacement Therapy (HRT).
Michael Markert practices in Biberach An Der Riss, Germany. Markert is rated as a Distinguished expert by MediFind in the treatment of Pignata Guarino Syndrome. He is also highly rated in 9 other conditions, according to our data. His top areas of expertise are Congenital Athymia, Pignata Guarino Syndrome, Immune Defect due to Absence of Thymus, DiGeorge Syndrome, and Heart Transplant.
Giuliana Giardino practices in Naples, Italy. Giardino is rated as a Distinguished expert by MediFind in the treatment of Pignata Guarino Syndrome. She is also highly rated in 22 other conditions, according to our data. Her top areas of expertise are Pignata Guarino Syndrome, Primary Immunodeficiency (PID), Omenn Syndrome, Bare Lymphocyte Syndrome, and Bone Marrow Transplant.
Published Date: August 01, 2014Published 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.