IPEX syndrome / Immunodysregulation polyendocrinopathy enteropathy X-linked Syndrome

📌𝐅𝐨𝐥𝐥𝐨𝐰 𝐨𝐧 𝐈𝐧𝐬𝐭𝐚𝐠𝐫𝐚𝐦 :- / drgbhanuprakash
IPEX syndrome / Immunodysregulation polyendocrinopathy enteropathy X-linked Syndrome #usmle #mbbs
Immune dysfunction, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a lethal syndrome first described as a unique entity by Powell et al in 1982. It most commonly manifests with early onset, insulin-dependent diabetes mellitus; severe watery diarrhea, often with accompanying failure to thrive; and dermatitis. Other clinical features are more variable in their expression.
Most affected children die within the first 2 years of life. IPEX syndrome is an X-linked recessive disorder with exclusive expression in males. The identification of mutations in the forkhead box protein 3 (FOXP3) gene associated with IPEX syndrome and a murine model has generated a considerable amount of interest and research. This has also extended into the therapeutic spectrum, with new immunosuppressive regimens and use of hematopoietic stem cell transplantation (HSCT).
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