What is IPEX like syndrome?

What is IPEX like syndrome?

What is IPEX syndrome? IPEX is a genetic disease of immune dysregulation in which patients can present early in life with diarrhea, diabetes and eczema. It is extremely rare, affecting 1 in every 1.6 million people.

What causes IPEX syndrome?

IPEX syndrome is inherited in an X-linked recessive pattern. The FOXP3 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition.

Can IPEX syndrome be cured?

Bone marrow transplantation (BMT) offers the only potential cure for IPEX syndrome. Early attempts at BMT using myeloablative conditioning regimens met with only limited success because of transplant-related mortality and other complications related to the underlying disease [Baud et al 2001].

What does IPEX mean?

Immunodysregulation polyendocrinopathy enteropathy X-linked
Immunodysregulation polyendocrinopathy enteropathy X-linked (or IPEX) syndrome is a rare disease linked to the dysfunction of the gene encoding transcription factor forkhead box P3 (FOXP3), widely considered to be the master regulator of the regulatory T cell lineage.

What causes autoimmune enteropathy?

Autoimmune enteropathy occurs when the body’s own immune system attacks itself, and irritates or inflames the lining of the intestine. Sometimes this is a problem only with the bowel or intestines; sometimes the body attacks itself in other places such as the thyroid or other glands in the body.

Why is immunosuppressive therapy used as a treatment for IPEX?

Tissue infiltration by lymphocytes, the presence of serum autoantibodies, and the mutations in FOXP3 that is expressed in lymphocytes in patients with IPEX strongly suggest that the pathogenesis of the disease involves the immune system, prompting the use of immunosuppressive therapy for this condition.

What do FOXP3 cells do?

FOXP3 (forkhead box P3), also known as scurfin, is a protein involved in immune system responses. A member of the FOX protein family, FOXP3 appears to function as a master regulator of the regulatory pathway in the development and function of regulatory T cells.

What other gene mutations can give rise to a clinical picture similar to Ipex?

Among the IPEX-like cohort, patients with mutations in genes related to Treg function (i.e., CD25, STAT5b, STAT3 and STAT1 GOF, LRBA, CTLA4) are affected by a clinical phenotype strongly resembling IPEX.

How do you know if you have autoimmune enteropathy?

The diagnostic criteria for AIE, proposed by Unsworth and Walker-Smith, include: (1) severe villous atrophy not responding to any dietary restriction; (2) circulating gut autoantibodies and/or associated autoimmune conditions, and (3) lack of severe immunodeficiency 2.

What is autoimmune disease enteropathy?

Autoimmune enteropathy is a rare disorder in which the immune system causes damage to the lining of the intestines. Symptoms can occur shortly after birth with poor growth as well as severe and long-lasting diarrhea.

When is Foxp3 expressed?

Transcriptional Regulation of Foxp3 They are expressed early during Treg cell development upon TCR engagement and cytokine stimulation (i.e., IL-2, IL-15) and then bind specific DNA regions before Foxp3 protein expression (27, 36, 56).

What cells express Foxp3?

It has been considered initially as the only specific marker for Treg. However, recent work has proposed that Foxp3 can be expressed by other types of lymphoid cells or myeloid cells and also by some non-hematopoietic cells such as epithelial cells.

How does someone get autoimmune enteropathy?

How common is autoimmune enteropathy?

Autoimmune enteropathy is a rare cause of intractable diarrhea associated with circulating gut autoantibodies and a predisposition to autoimmunity. It is rarely observed in adults with only eleven cases reported to date.

What causes enteropathy?

Protein-losing enteropathy (PLE) occurs when albumin and other protein-rich materials leak into your intestine. Albumin is the most abundant protein in your blood. It has many functions, including transporting hormones and retaining water in your bloodstream.