SNP Shot: Genomic Insights

T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a form of severe combined immunodeficiency (SCID). SCID refers to a group of disorders where the body lacks robust immune defenses against external threats like bacteria and viruses. Individuals with this specific type of SCID lack working T cells, essential immune cells that identify and neutralize foreign invaders, preventing infections. The absence of functional T cells leads to recurring and persistent infections from early infancy. These infections impede growth and pose a significant threat to life; without proper treatment, most affected children survive only into infancy or early childhood.

This condition also impacts hair and nail development. Congenital alopecia means the absence of hair is present at birth. Those affected have no hair on their scalp, eyebrows, or eyelashes. Nail dystrophy signifies that the fingernails and toenails are misshapen. The nails often display ridges, pits, or unusual curvature.

Studies have documented brain and spinal cord (central nervous system) abnormalities in a few cases of this condition. The prevalence of central nervous system involvement in T-cell immunodeficiency, congenital alopecia, and nail dystrophy is currently uncertain.

Inheritance:

The inheritance pattern for this condition is autosomal recessive. This means that both copies of the responsible gene in each cell must carry mutations for the condition to manifest. Individuals with one copy of the mutated gene, the parents of an affected child, are carriers but usually don't exhibit the condition's symptoms. However, some carriers of a mutated FOXN1 gene may have abnormal fingernails or toenails.