Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature.

Abstract excerpt

Pathogenic variants in GINS1 are believed to cause a primary combined immunodeficiency and growth retardation syndrome with natural killer cell deficiency and chronic neutropenia. To date, however, very few cases have been reported. Thus, the role of GINS1 in disease, as well as the spectrum of variants and their associated phenotype, remains unclear. We present a 2-year-old female with growth retardation,...

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