Combined immunodeficiency-enteropathy spectrum
Synonyms: CID-MIA/early-onset IBD
A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum homogenous calcifications in the abdominal cavity hepatic cholestasis cirrhosis and chronic liver failure hypoplastic thymus and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia as well as low serum levels of IgG IgA and IgM with elevated serum IgE. The disease is mostly fatal in infancy or childhood.
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 February 2024
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Combined immunodeficiency-enteropathy spectrum?
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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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