Fig 1 | Genetics in Medicine

Fig 1

From: Mutations in genes required for T-cell development:IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review

Fig 1

Defects in human T-cell development resulting in SCID phenotype. A simplified depiction of lymphocyte differentiation is shown. B cells and NK cells mature in the bone marrow, whereas T cells mature in the thymus. Normally, only the mature forms of these cells are released into the peripheral blood. Various stages in NK and T-cell development that are blocked by mutations in the genes known to cause SCID (IL2RG, JAK3, ADA, IL7R, RAG1, RAG1, ARTEMIS, and CD45) are indicated by X and dashed lines. Presence or absence of T-cell–specific antigenic markers (CD4, CD8 TCRβ, and TCRαβ) is also indicated. Effects of these mutations on B-cell development is not shown.

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