IPEX Syndrome (Immune Dysregulation, Polyendocrinopathy, Autoimmune Enteropathy, X-linked)
Differential Diagnosis
- Tropical sprue
- Prolonged post-enteritis syndrome
- Celiac disease
- Common variable immunodeficiency
- Food allergy
- Crohn disease
- Confined to tropics
- Responds to anti-microbial therapy
Prolonged Post-enteritis Syndrome
For pediatric autoimmune enteropathy with associated polyendocrinopathy see IPEX syndrome.
Celiac Disease Autoimmune Enteropathy Usually occurs in childhood or older Usually begins under 6 months of age, but can occur in adults Responds to gluten withdrawal Refractory to gluten withdrawal Anti-endomysial and - tissue transglutaminase antibodies Anti-enterocyte antibodies CD4 negative T cells predominate CD4+ T cells predominate Gamma delta T cell receptors predominate Alpha beta T cell receptors predominate
Some adult autoimmune enteropathy cases have been discovered in the workup of patients thought to have celiac disease but who do not respond to removal of gluten from the diet
The two entities may be histologically indistinguishable.
Autoimmune Enteropathy Common Variable Immunodeficiency – GI Involvement Numerous plasma cells Plasma cells frequently markedly decreased Diffuse infiltrate primarily composed of T lymphocytes Prominent nodular lymphoid hyperplasia Prominent villous atrophy Villous atrophy may be mild to severe Prominent crypt destruction Crypt destruction not prominent Anti-enterocyte antibody All antibodies generally depressed; humoral testing is not reliable in CVID
For pediatric autoimmune enteropathy with associated polyendocrinopathy see IPEX syndrome.
For pediatric autoimmune enteropathy with associated polyendocrinopathy see IPEX syndrome.
Food Protein Enteropathy Autoimmune Enteropathy Predominantly eosinophilic infiltrate Predominantly T cell infiltrate Frequent associated allergy or atopy No association with other allergies or atopy Resolved by elimination of offending food from diet Not related to diet
For pediatric autoimmune enteropathy with associated polyendocrinopathy see IPEX syndrome.
Crohn Disease Autoimmune Enteropathy Skip lesions predominate Usually diffuse Usually involves large intestine Principal involvement is duodenum, jejunum and stomach Transmural inflammation Mucosal inflammation Granulomas may be seen Granulomas absent Deep fissures frequent No fissures or deep ulcers
