Long-term disease course in a patient with severe neonatal IPEX syndrome
Résumé
We report here on the clinical, histological and immunological findings regarding a patient with immunodysregulation polyendocrinopathy enteropathy X-linked syndrome who was treated for the first 21 years with a combination of immunosuppressant agents (IS). The potential modalities of care and treatment options in this rare and severe immune-mediated disorder are discussed. So, long-term outcome for IPEX patients can be obtained with immunosuppressive treatment, which is important since the outcome of haematopoietic stem cell transplantation for this population is variable.
Mots clés
Male
Type 1
Diabetes Mellitus
Diarrhea
Prednisolone
Genetic Diseases
Gastrointestinal
Endoscopy
X-Linked
Follow-Up Studies
Young Adult
Combination
Drug Therapy
Immune System Diseases
Infant
Immunosuppressive Agents
Newborn
Mycophenolic Acid
Glomerular Filtration Rate
Humans
Glucocorticoids
Immunoglobulin E
Liver Cirrhosis
Cyclosporine