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STAT3 Gain-of-Function Mutations Underlie Deficiency in Human Nonclassical CD16⁺ Monocytes and CD141⁺ Dendritic Cells.

ABSTRACT: Genetic analysis of human inborn errors of immunity has defined the contribution of specific cell populations and molecular pathways in the host defense against infection. The STAT family of transcription factors orchestrate hematopoietic cell differentiation. Patients with de novo activating mutations of STAT3 present with multiorgan autoimmunity, lymphoproliferation, and recurrent infections. We conducted a detailed characterization of the blood monocyte and dendritic cell (DC) subsets in patients with gain-of-function (GOF) mutations across the gene. We found a selective deficiency in circulating nonclassical CD16⁺ and intermediate CD16⁺CD14⁺ monocytes and a significant increase in the percentage of classical CD14⁺ monocytes. This sugge

SUBMITTER: Korenfeld D

PROVIDER: S-EPMC8578438 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature

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Dataset Information

STAT3 Gain-of-Function Mutations Underlie Deficiency in Human Nonclassical CD16⁺ Monocytes and CD141⁺ Dendritic Cells.

OmicsDI is part of the ELIXIR infrastructure

Tweets

Dataset Information

STAT3 Gain-of-Function Mutations Underlie Deficiency in Human Nonclassical CD16+ Monocytes and CD141+ Dendritic Cells.

OmicsDI is part of the ELIXIR infrastructure

Tweets

STAT3 Gain-of-Function Mutations Underlie Deficiency in Human Nonclassical CD16⁺ Monocytes and CD141⁺ Dendritic Cells.