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Article

Loss of human ICOSL results in combined immunodeficiency

29 Nov 2018

Abstract excerpt

Primary immunodeficiencies represent naturally occurring experimental models to decipher human immunobiology. We report a patient with combined immunodeficiency, marked by recurrent respiratory tract and DNA-based viral infections, hypogammaglobulinemia, and panlymphopenia. He also developed moderate neutropenia but without prototypical pyogenic infections. Using whole-exome sequencing, we identified a homozygous...

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PMID: 30498080
DOI: 10.1084/jem.20180668

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