| Description |
Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) is a severe infantile inflammatory bowel disease and central nervous system disease associated with epilepsy, brain atrophy and posterior leukoencephalopathy. It has been reported that loss-of-function mutations in the TGFB1 cause this disease.
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| Brite |
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Certain disorders involving the immune system
4B2Y Other specified disorders involving the immune system
H02669 Inflammatory bowel disease, immunodeficiency, and encephalopathy
Pathway-based classification of diseases [BR:br08402]
Cellular processes
nt06548 Integrin signaling
H02669 Inflammatory bowel disease, immunodeficiency, and encephalopathy
nt06535 Efferocytosis
H02669 Inflammatory bowel disease, immunodeficiency, and encephalopathy
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| Authors |
Kotlarz D, Marquardt B, Baroy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Stromme P, Klein C |
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