Yu Nee Lee

TL;DR: It is demonstrated that patients with hypomorphic RAG mutations, especially those with delayed-onset combined immune deficiency and granulomatous/autoimmune manifestations (CID-G/AI), produce a broad spectrum of autoantibodies and indicates that environmental triggers may modulate the phenotypic expression of autoimmune manifestations.

TL;DR: It is found that B cell development precedes T cell development and that repertoire maturation is both temporally and spatially regulated in the human fetus.

TL;DR: In this paper, the authors investigated the molecular basis for phenotypic diversity presented in patients with various RAG1 mutations, and demonstrated correlation between defective recombination activity of hRAG1 mutant proteins and severity of the clinical and immunologic phenotype.

TL;DR: In this article, the authors investigated the molecular basis for phenotypic diversity presented in patients with various RAG1 mutations, and demonstrated correlation between defective recombination activity of hRAG1 mutant proteins and severity of the clinical and immunologic phenotype.

TL;DR: The data provide the foundation for a 2nd trimester and infant intestinal immune atlas and suggest that a complex innate and adaptive immune landscape exists significantly earlier than previously reported.