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From Phenotype to Genotype: Discovery of New Molecular Primary Immunodeficiencies

Zhang, ZinanUniversity of Cambridge2021

… four different kindreds were identified to have IL2RB deficiency due to three different loss of function IL2RB mutations, leading to either significant truncation of protein, reduced surface expression, or decreased IL-2 binding affinity. These patients all presented with autoantibodies, …

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