a-unique presentation of infantile onset colitis and eosinophilic disease without recurrent infections resulting from a novel homozygous carmil2 variant

December 20, 2021 12:29 pm Published by Leave your thoughts

a boy with severe infantile-onset colitis and eosinophilic gastrointestinal disease and no evidence of recurrent or severe infections went through a Trio whole-exome analysis via Genoox software revealing a homozygous variant in the capping protein regulator and myosin 1 linker 2 (CARMIL2) gene (c.1590C>A) which co-segregated with the disease in the nuclear family. This case extend the role of CARMIL2 gene to be responsible also to early-onset inflammatory and eosinophilic gastrointestinal disorders, even when signs of immunodeficiency are not observed.

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