immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
MeSH: C580192ORPHA: 37042
Overview
hypersensitivity reaction type II disease characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material basis in mutation in the FOXP3 gene on chromosome Xp11
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, sourced from HPO and Orphanet clinical annotations.
AutoimmunityAbnormality of the endocrine systemEczematoid dermatitisFailure to thrive in infancyIron deficiency anemiaAbnormal intestine morphologyAbnormal blood ion concentrationIncreased circulating IgE concentrationSecretory diarrheaCrusting erythematous dermatitisInflammatory abnormality of the skinAllergyAnti-thyroid peroxidase antibody positivityDecreased double-negative T cell proportionThyroiditisType I diabetes mellitusHypothyroidismUrticariaRecurrent skin infectionsDecreased total neutrophil countAutoimmune hemolytic anemiaAutoimmune neutropeniaTubulointerstitial nephritisAutoimmune thrombocytopeniaVomitingMalabsorptionRespiratory distressRecurrent respiratory infectionsRecurrent infectionsHypocalcemiaElevated circulating hepatic transaminase concentrationHypomagnesemiaHypoalbuminemiaPsoriasiform dermatitisCachexiaInterstitial pneumonitisAbnormal blistering of the skinNail dystrophyHepatitisMembranous nephropathyAnti-liver cytosolic antigen type 1 antibody positivityDecreased circulating prealbumin concentrationInsulin receptor antibody positivityRecurrent gastroenteritisNephrotic syndromeHyperthyroidismMeningitisAlopeciaSplenomegalyPneumoniaColitisIleusLymphadenopathyOsteomyelitisGastritisDependency on intravenous nutritionNasogastric tube feedingMyositisSepsis
Classification & Codes
MeSH Code
C580192Orphanet Code
ORPHA:37042immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
| MeSH | C580192 |
| Orphanet | ORPHA:37042 |
| Treatments | 0 drug(s) |
| Symptoms on record | 59 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO