In the last decade, increased number of reports have been published on the acquired form that presents in adulthood. [ncbi.nlm.nih.gov]

• Failure to Thrive

  Severe autoimmune enteropathy manifests with intractable secretory diarrhea leading to malabsorption, electrolyte disturbance and failure to thrive. Vomiting, ileus, gastritis or colitis can also be observed. [orpha.net]

  Failure to thrive led to initiation of total parenteral nutrition and transfer to our institution. Figure 1. [acgcasereports.gi.org]

  Ten of fourteen (71%) patients were diagnosed with failure to thrive and required parenteral nutritional support. The time interval from presentation to diagnosis varied from 1 month to 1.2 years (median, 4.2 months; mean 6.3 months). [nature.com]

• Recurrent Diarrhea

  Recurrent diarrhea, morning nausea, and intermittent abdominal pain occurred from age 9, and he became Cushingoid because of frequent stress doses of hydrocortisone. [pediatrics.aappublications.org]

• Suggestibility

  Our results suggest that the detection of the autoantibody against the 75-kD antigen has a diagnostic value in AIE and that the autoimmune reaction against the 75-kD antigen may be implicated in the development of intestinal and renal tissue damage in [ncbi.nlm.nih.gov]

• Hyperactivity

  The pathophysiology of AIE likely involves a hyperactive immune state in the setting of a T-cell regulatory defect, resulting in destruction of the enterocyte. [ncbi.nlm.nih.gov]

  The pathophysiology of AIE is not completely understood, but the available evidence suggests a hyperactive immune state caused by a defect in regulatory T-cell homeostasis.3 AIE must be distinguished from refractory sprue, which is a form of celiac disease [kundoc.com]

• Nystagmus

  A 13-year-old celiac girl was admitted because of vomiting, weight loss, diarrhea, hypoproteinemia, and neurological disturbances such as head tremors, vertical nystagmus, and lower limb hyperesthesia. [ncbi.nlm.nih.gov]

• Hyperesthesia

  A 13-year-old celiac girl was admitted because of vomiting, weight loss, diarrhea, hypoproteinemia, and neurological disturbances such as head tremors, vertical nystagmus, and lower limb hyperesthesia. [ncbi.nlm.nih.gov]

Make a comprehensive diagnostic workup with data from ancillary techniques and molecular findings whenever appropriate. Effectively grasp complex topics and streamline decision- making by using extensive tables, graphs, and flowcharts. [books.google.de]

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 Autoimmune Enteropathy Common Variable Immunodeficiency – GI Involvement Numerous [surgpathcriteria.stanford.edu]

Extensive inpatient workup was unrevealing and she was transferred for evaluation. The patient denied recent travel or sick contacts. She lived on a farm with goats but denied animal health issues. [shmabstracts.com]

Infectious workup was negative, including human immunodeficiency virus screening. Abdominal computed tomography (CT) with intravenous contrast showed enteritis. [acgcasereports.gi.org]

• Candida

  Lymphocyte subsets and immunoglobulin concentrations were normal, but in vitro testing showed no activation in response to phytohaemagglutinin, Candida, or purified protein derivative, although the response to interleukin (IL)-2 was intact. [ncbi.nlm.nih.gov]

Treatment requires long-term immunosuppression, and steroid-sparing treatment strategies are desirable. Azathioprine and cyclosporine A have limitations, however alternatives have not been described in adults. [ncbi.nlm.nih.gov]

The prognosis of autoimmune enteropathy patients depends on the severity of digestive symptoms (including fecal output), on the severity and extension of histological lesions along the gastrointestinal apparatus, and on the presence of extra-intestinal [ncbi.nlm.nih.gov]

One might say that the advent of immuno-suppressive therapeutic options being applied to AIE, has been nothing short of remarkable in terms of long-term prognosis. ---------- * Singhi AD. et al. [questioning-answers.blogspot.com]

Prognosis Without timely diagnosis and treatment, the disease is usually fatal within the first 2 years of life. Some may survive into childhood. [orpha.net]

The case also highlights the importance of collaboration between general and subspecialist physicians in identifying a primary etiology to a secondary clinical presentation. [ncbi.nlm.nih.gov]

Etiology IPEX syndrome is caused by mutations in the FOXP3 gene (Xp11.23). [orpha.net]

Cultures and antigen detection tests of stool failed to identify an infectious etiology. [journals.lww.com]

The patient was discharged on antibiotics because the patient’s history and symptoms supported an infectious etiology albeit undiagnosed. Two days later, he was re-admitted for persistent symptoms. [acgcasereports.gi.org]

Before a definitive diagnosis was rendered, the clinical differential included milk allergy, infectious etiologies and celiac disease. In four cases, inflammatory bowel disease was also within the differential diagnosis. [nature.com]

Because of the paucity of cases, the epidemiology of the disease remains unclear, and treatment is based on the cases found in the literature. Of the 35 adult cases reported, only 4 involved the colon. [ncbi.nlm.nih.gov]

Summary Epidemiology Prevalence is unknown. Less than 150 cases have been reported to date but the disease has probably been underestimated. [orpha.net]

Epidemiology of down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221–7. CrossRef PubMed 2. Carnicer J, Farré C, Varea V, Vilar P, Moreno J, Artigas J. Prevalence of coeliac disease in Down’s syndrome. [springermedizin.de]

However, only few epidemiological studies are available dealing with endocrine complications in different types of primary immunodeficiency diseases. [readbyqxmd.com]

The pathophysiology of AIE likely involves a hyperactive immune state in the setting of a T-cell regulatory defect, resulting in destruction of the enterocyte. [ncbi.nlm.nih.gov]

More clarity about the pathophysiology of AIE is important for a better diagnosis and defining targeted therapeutic options. [rug.nl]

Recently, more has been discovered about the pathophysiology of autoimmune enteropathy. It would seem that an immunological defect exists, which is caused by the non-functioning of regulatory T cells. [ntvg.nl]

While proper zinc supplementation can resolve the latter, recognizing this association can trigger earlier diagnosis, minimize unnecessary tests, and establish earlier intervention to improve quality of life and prevent recurrence of AAE. [ncbi.nlm.nih.gov]

In this case, recurrent diarrhea necessitated stress doses of hydrocortisone to prevent adrenal crisis and at times resulted in short-term improvement of diarrhea, suggesting immunosuppressive benefits. [pediatrics.aappublications.org]

Total parenteral nutrition (TPN) was required to prevent further weight loss and dehydration. Additional evaluation revealed a mild anemia (hemoglobin, 10 g/dL) with normal renal, liver, and thyroid function. [slideheaven.com]

Bone marrow transplantation from genetically HLA-nonidentical donors in children with fatal inherited disorders excluding severe combined immunodeficiencies: use of two monoclonal antibodies to prevent graft rejection. [journals.plos.org]