Article
Expanding the clinical spectrum of CD3γ deficiency: comprehensive characterization of adult-onset disease and integrated reevaluation of all reported patients.
Frontiers in immunology - 1 Jan 2026
Obeng Raphaela, Elsayed Abdulwahab, Takyi Amos, von Hardenberg Sandra, Atschekzei Faranaz, Witte Torsten, Sogkas Georgios
Abstract excerpt
Objective: CD3γ deficiency is an ultrarare autosomal recessive inborn error of immunity characterized by immune dysregulation and variable immunodeficiency. To date, only 16 predominantly pediatric cases have been reported. Here, we describe two additional adult patients with CD3γ deficiency and provide a comprehensive reevaluation of all previously published cases. Methods: Clinical, immunological, and genetic...
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