A Mild Presentation of Immune Dysregulation Polyendocrinopathy Enteropathy X-linked Syndrome
*Minsoo Kim Department Of Pediatrics, Division Of Pediatric Allergy, Immunology, Columbia University, United States
*Corresponding Author: Minsoo Kim
Department Of Pediatrics, Division Of Pediatric Allergy, Immunology, Columbia University, United States Email:firstname.lastname@example.org
Published on: 2018-10-03
Patients with Immune Dysregulation Polyendocrinopathy Enteropathy X-linked Syndrome classically present in infancy with intractable diarrhea, chronic dermatitis and autoimmune disorders. However, its presentation can be variable and often very mild. We present an atypically mild case of IPEX demonstrating the importance of genetic workup and high index of suspicion. Laboratory evaluation was performed including T, B, and NK cells, immunoglobulin levels, autoantibodies, lymphocyte mitogen proliferation assay, as well as neutrophil oxidative burst assay. FOXP3 flow cytometry was performed on peripheral blood mononuclear cells and the FOXP3 gene was sequenced. Patient was found to have normal T and B cells, elevated IgE and low IgA. His initial foxp3 flow cytometry was normal but a repeat flow cytometry showed a mild decreased percentage of CD4+CD25+FOXP3+ T cells compared to normal control. FOXP3 mutation identified: Hemizygous c.454+4A>G. The patient’s very mild presentation of IPEX may be secondary to the fact that he is able to produce a small percentage of normal FOXP3 protein. This is the mildest clinical presentation of IPEX reported. However, it is expected that he will ultimately have significant clinical problems making his early diagnosis very important.
Immune dysregulation, polyendocrinopathy, enteropathy X-linked (IPEX) syndrome is a rare x-linked inherited condition. Various mutations in the transcription factor forkhead box protein 3 gene (FOXP3) , the major regulator of T regulatory cells located on chromosome Xp11.23, cause IPEX. Patients classically present in infancy with intractable diarrhea often requiring total parental nutrition, chronic dermatitis and autoimmune disorders such as insulin- dependent diabetes mellitus. Affected males may die before one year of age if the disease is not diagnosed early. However, recent reports suggest that IPEX may present with less severe manifestations such as mild to moderate arthritis or enteropathy