What is IPEX syndrome ?

IPEX syndrome (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) is a rare, inherited autoimmune disorder caused by mutations in the FOXP3 gene, which leads to dysfunctional regulatory T cells. The condition, which primarily affects males, results in the immune system attacking the body’s own tissues and organs, causing severe enteropathy (intestinal issues), endocrinopathy (hormone problems), and dermatitis. Symptoms like severe diarrhea, eczema, and type 1 diabetes typically appear in the first year of life, and the syndrome can be life-threatening.
What it is:
Autoimmune Disorder: The immune system mistakenly attacks and destroys the body’s own cells and tissues.
X-linked Recessive: It is an X-linked recessive genetic disorder, meaning it primarily affects males and a mother can be a carrier.
FOXP3 Mutation: The root cause is a mutation in the FOXP3 gene, which is essential for the development and function of regulatory T cells (Tregs).
Symptoms & Manifestations:
Enteropathy: The most common and often the first symptom is severe, intractable autoimmune diarrhea caused by damage to the intestinal lining.
Endocrinopathy: Autoimmune attacks on hormone-producing glands, most commonly leading to Type 1 Diabetes Mellitus (autoimmune destruction of pancreatic cells) and thyroid issues.
Dermatitis: Diffuse eczema or other skin issues like psoriasiform or ichthyosiform dermatitis.
Other Manifestations: Can also involve hematologic disorders (like autoimmune anemia), kidney disease, and splenomegaly (enlarged spleen).