The Journal of Pediatrics
Volume 145, Issue 5 , Pages 710-712, November 2004

Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: Successful correction with umbilical cord blood transplantation

From the Division of Allergy and Immunology and Division of Bone Marrow Transplantation, Department of Pediatrics, and the Division of Rheumatology and Immunology, Department of Medicine, Duke University Medical Center, Durham, North Carolina; the Department of Pediatrics, Presbyterian Hospital, Charlotte, North Carolina; and the Clinical Center for the Study of Development and Learning, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

Received 12 December 2003; received in revised form 4 May 2004; accepted 29 June 2004.

Purine nucleoside phosphorylase deficiency is a primary immunodeficiency syndrome characterized by the triad of recurrent infection, neurologic dysfunction, and autoimmunity. This patient presented atypically with few infections and normal T-cell function. Progressive lymphopenia, ataxia, and developmental delay led to diagnosis. Umbilical cord blood transplantation corrected the immunodeficiency.

dGTP, Deoxyguanosine triphosphate, PNP-def, Purine nucleoside phosphorylase deficiency, SCID, Severe combined immunodeficiency

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 Supported by NIH Grant DK 20902 and a grant from Enzon, Inc.No authors have any financial arrangement with a company whose product figures prominently in the submitted manuscript or with a company making a competing product.

PII: S0022-3476(04)00641-9

doi:10.1016/j.jpeds.2004.06.075

The Journal of Pediatrics
Volume 145, Issue 5 , Pages 710-712, November 2004

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