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The alpha subunit of IL-7 receptor (IL7R7α) is critical for the differentiation of T cells, specifically for the development and maintenance of γδT cells. Mutations in  IL7RA  are associated with Severe Combined Immunodeficiency (SCID). Infants with  IL7RA  deficiency can be identified through newborn screening program. We aimed at defining the immunological and genetic parameters that are directly affected by the  IL7RA  mutation on the immune system of five unrelated patients which were identified by our newborn screening program for SCID. The patients were found to have a novel identical homozygote mutation in  IL7RA  (n.c.120 C>G; p.F40L). Both surface expression of IL7Rα and functionality of IL-7 signaling were impaired in patients compared to controls. Structural modeling demonstrated instability of the protein structure due to the mutation. Lastly the  TRG  immune repertoire of the patients showed reduced diversity, increased clonality and differential CDR3 characteristics. Interestingly, the patients displayed significant different clinical outcome with two displaying severe clinical picture of immunodeficiency and three had spontaneous recovery. Our data supports that the presented  IL7RA  mutation affects the IL-7 signaling and shaping of the  TRG  repertoire, reinforcing the role of  IL7RA  in the immune system, while non-genetic factors may exist that attribute to the ultimate clinical presentation and disease progression.

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation