Purine nucleoside phosphorylase (PNP) deficiency is a rare metabolic disorder leading to combined immunodeficiency (CID) and neurological deficits such as developmental delay, ataxia, and motor impairment. We report a series of three neonates/infants who had received a genetic diagnosis of PNP deficiency prenatally (P1 and P2, siblings) or early in life (P3) because of familial index cases
Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency / Eichinger, Anna; von Bernuth, Horst; Dedieu, Cinzia; Schroeder, Sebastian A; la Marca, Giancarlo; Albert, Michael H; Hauck, Fabian. - In: JOURNAL OF CLINICAL IMMUNOLOGY. - ISSN 1573-2592. - ELETTRONICO. - (2021), pp. 0-0. [10.1007/s10875-021-01003-9]
Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency
la Marca, Giancarlo;
2021
Abstract
Purine nucleoside phosphorylase (PNP) deficiency is a rare metabolic disorder leading to combined immunodeficiency (CID) and neurological deficits such as developmental delay, ataxia, and motor impairment. We report a series of three neonates/infants who had received a genetic diagnosis of PNP deficiency prenatally (P1 and P2, siblings) or early in life (P3) because of familial index cases
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