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Clinical and cellular phenotypes resulting from a founder mutation in IL10RB.

Clinical and experimental immunology - 23 Apr 2024

Mao Zhiming, Betti Michael J, Cedeno Miguel A, Pedroza Luis A, Basaria Shamel, Liu Qi, Choi Joseph M, Markle Janet G

Abstract excerpt

Inborn errors of immunity are a group of rare genetically determined diseases that impair immune system development or function. Many of these diseases include immune dysregulation, autoimmunity, or autoinflammation as prominent clinical features. In some children diagnosed with very early onset inflammatory bowel disease (VEOIBD), monogenic inborn errors of immune dysregulation underlie disease. We report a case...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37503744
DOI: 10.1093/cei/uxad085
PMCID: PMC11036105

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