This block is caused by mutations of the gene
encoding the γc cytokine receptor subunit of interleukin - 2, -4, -7, -9, and -15 receptors, which participates in the delivery of
growth, survival, and differentiation signals to
early lymphoid progenitors.
RNASE2 is a non-secretory ribonuclease involved in several functions; HBA1 is alpha hemoglobin involved in oxygen transport; EGR3 is a transcriptional regulator involved in
early growth response; CXCL2 is a chemokine gene that
encodes secreted proteins involved in immune and inflammatory processes