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A germline heterozygous dominant negative<i>IKZF2</i>variant causing syndromic primary immune regulatory disorder and ICHAD

2023-09-11

Abstract excerpt

Monogenic defects that impair the control of inflammation and tolerance lead to profound immune dysregulation, including autoimmunity and atopy. Studying these disorders reveals important molecular and cellular factors that regulate human immune homeostasis and identifies potential precision medicine targets. Here, we provide a detailed immunological assessment of a pediatric patient with a recently discovered syn...

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Literature Corpus work
47c27539-6c74-5800-b919-eeb20e331f8c
DOI
10.1101/2023.09.09.23295301
Open publication

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A germline heterozygous dominant negative<i>IKZF2</i>variant causing syndromic primary immune regulatory disorder and ICHADDOI 10.1101/2023.09.09.23295301
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