Infantile inflammatory bowel disease with neurological involvement
A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive and central nervous system disease with global developmental delay and regression impaired speech hypotonia hyperreflexia and epilepsy. Brain imaging shows global cerebral atrophy thin corpus callosum delayed myelination and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation as well as decreased T-cell subsets have been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Infantile inflammatory bowel disease with neurological involvement?
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Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Immune Deficiency Foundation
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Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
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